Acute Leukemias and Myeloid Neoplasms

Questions and Answers

Which type of leukemia is characterized by the presence of Auer rods in the blasts?

Chronic myeloid leukemia

T-cell acute lymphoblastic leukemia

Acute myeloid leukemia (correct)

B-cell acute lymphoblastic leukemia

What is the common feature of myelodysplastic syndrome and chronic myeloid leukemia?

Presence of Auer rods

Increased marrow granulocytic precursors

Frequent mediastinal involvement

Dysplastic marrow progenitors (correct)

Which gene is often mutated in B-cell acute lymphoblastic leukemia?

RARA

BCR-ABL (correct)

ABL

JAK2

What is the hallmark of polycythemia vera?

Increase in all marrow elements Signup and view all the answers

Which type of leukemia is characterized by frequent mediastinal involvement?

T-cell acute lymphoblastic leukemia Signup and view all the answers

What is the common mutation found in primary myelofibrosis?

Mutations in the JAK2 tyrosine kinase gene Signup and view all the answers

Which type of leukemia is characterized by marrow replacement by lymphoid blasts?

B-cell acute lymphoblastic leukemia Signup and view all the answers

What is the common feature of acute myeloid leukemia and myelodysplastic syndrome?

Dysplastic marrow progenitors Signup and view all the answers

Which gene is often mutated in chronic myeloid leukemia?

BCR-ABL Signup and view all the answers

What is the hallmark of primary myelofibrosis?

Increased and atypical megakaryocytes Signup and view all the answers

What is the typical weight of the spleen in Polycythemia Vera (PCV) patients?

4000 g Signup and view all the answers

What is the role of JAK2 mutations in Polycythemia Vera (PCV)?

They reduce the dependence of hematopoietic cells on growth factors Signup and view all the answers

What is a common histological feature of the bone marrow in Polycythemia Vera (PCV)?

Hypercellularity Signup and view all the answers

What is the effect of JAK2 mutations on hematopoietic cells?

They lead to increased proliferation and survival Signup and view all the answers

What is a common complication of Polycythemia Vera (PCV)?

Thrombosis Signup and view all the answers

What is the typical age of onset of Polycythemia Vera (PCV)?

40-60 years Signup and view all the answers

What is the role of the JAK2 kinase in hematopoiesis?

It is involved in the regulation of multiple growth factor receptors Signup and view all the answers

What is a characteristic laboratory feature of Polycythemia Vera (PCV)?

Thrombocytosis Signup and view all the answers

What is the primary cause of fibrosis in primary myelofibrosis?

Pro-fibrogenic factors Signup and view all the answers

What is a characteristic finding in the peripheral blood smear of primary myelofibrosis?

Teardrop-shaped red cells Signup and view all the answers

Which of the following is responsible for angiogenesis and collagen deposition in primary myelofibrosis?

TGF-β Signup and view all the answers

What is the underlying mechanism of marrow distortion in primary myelofibrosis?

Fibrogenic factors Signup and view all the answers

What is the characteristic feature of the histological picture in primary myelofibrosis?

Fibrosis and increased megakaryocytes Signup and view all the answers

What is the typical white blood cell count seen in patients with chronic lymphocytic leukemia (CLL)?

5000 cells/μL Signup and view all the answers

What is the role of TGF-β in primary myelofibrosis?

Promoting angiogenesis and collagen deposition Signup and view all the answers

What is the common feature of primary myelofibrosis and other diseases producing marrow distortion?

Identical histological picture Signup and view all the answers

What percentage of children with B-ALL and T-ALL are cured with combination chemotherapy regimens?

Greater than 80% Signup and view all the answers

What are the two molecular subtypes of acute leukemia mentioned in the content?

BCR-ABL-positive and acute promyelocytic leukemia Signup and view all the answers

What is a characteristic finding in acute promyelocytic leukemia?

Both b and c Signup and view all the answers

What is the significance of the BCR-ABL fusion gene?

It is associated with a specific type of acute lymphoblastic leukemia. Signup and view all the answers

What is the significance of the Auer rods?

They are a characteristic finding in acute promyelocytic leukemia. Signup and view all the answers

What is the primary difference between B-ALL and T-ALL?

B-ALL is associated with the BCR-ABL fusion gene, while T-ALL is not. Signup and view all the answers

What is the role of combination chemotherapy in treating B-ALL and T-ALL?

It is used to kill rapidly dividing leukemia cells. Signup and view all the answers

What is the primary focus of targeted therapies in leukemia treatment?

To target specific genetic mutations or proteins involved in leukemia development. Signup and view all the answers

What is a common clinical outcome associated with CML?

Poor clinical outcomes Signup and view all the answers

Which symptom might appear earliest in patients with CML?

Splenomegaly Signup and view all the answers

What does disordered differentiation in CML typically lead to?

Varied urate levels Signup and view all the answers

In cases of megakaryocytic anemia, the erythroid forms may exhibit which characteristic?

Presence of iron deposits Signup and view all the answers

Which of the following is associated with the transition from CML to acute leukemia?

Blast crisis Signup and view all the answers

CML is classified based on the origin of which cells?

Granulocyte precursors and stem cells Signup and view all the answers

What is a typical morphological feature observed in the bone marrow of CML patients?

Population of hematopoietic precursors that are nonspecific Signup and view all the answers

What effect has targeted therapy had on the disease course of CML?

Dramatic alteration in disease course Signup and view all the answers

Neoplastic proliferations of white cells are typically characterized by a nonproductive infection and the virus persists in a latent form.

False Signup and view all the answers

EBV-encoded proteins are expressed in all EBV-infected cells.

False Signup and view all the answers

Infected B cells stimulated to proliferate can undergo apoptosis and die, limiting the expansion of the infected cell population.

True Signup and view all the answers

Hematological malignancies occur mostly in older adults and are relatively rare in children.

False Signup and view all the answers

All hematological malignancies are characterized by a similar set of genetic mutations.

False Signup and view all the answers

The JAK2 mutation is commonly found in all hematological malignancies.

False Signup and view all the answers

Primary myelofibrosis is characterized by a complete replacement of the bone marrow by lymphoid blasts.

False Signup and view all the answers

Targeted therapies have had no impact on the disease course of hematological malignancies.

False Signup and view all the answers

In primary myelofibrosis, the hallmark is a complete replacement of the bone marrow by megakaryocytic blasts.

False Signup and view all the answers

Polycythemia vera is characterized by a low white blood cell count.

False Signup and view all the answers

The JAK2 mutation is specifically associated with chronic lymphocytic leukemia.

False Signup and view all the answers

Fatigue, weight loss, and night sweats are uncommon symptoms of polycythemia vera.

False Signup and view all the answers

Primary myelofibrosis is often associated with a normal complete blood count.

False Signup and view all the answers

The spleen is typically not enlarged in polycythemia vera patients.

False Signup and view all the answers

Myelodysplastic syndrome is characterized by a complete replacement of the bone marrow by fibrous tissue.

False Signup and view all the answers

Hyperuricemia and gout are uncommon complications of polycythemia vera.

False Signup and view all the answers

Myelodysplastic syndrome always results in the production of normal marrow elements.

False Signup and view all the answers

The common symptoms of conditions like ALL mostly relate to anemia, such as weakness and fatigue.

True Signup and view all the answers

Acute myeloid leukemia (AML) typically arises from preexisting genetic mutations.

True Signup and view all the answers

Basophil leukemias tend to exhibit smaller than normal granulocyte numbers.

False Signup and view all the answers

Neuropenia is associated with a risk of infection.

True Signup and view all the answers

In cases of acute leukemia, gene rearrangements and base pair substitutions are uncommon.

False Signup and view all the answers

Chronic myeloid leukemias typically display large abnormal cells with distinctive nucleoli and heavy cytoplasm.

False Signup and view all the answers

Anemia is never present in cases of acute leukemia.

False Signup and view all the answers

A normal platelet count in acute leukemia can sometimes exceed 100,000 cells/μL.

False Signup and view all the answers

A common feature of myelodysplastic syndrome is the presence of chromatin alterations within blast cells.

True Signup and view all the answers

A decrease in red blood cells is frequently observed as a symptom of marrow failure.

True Signup and view all the answers

Pathogenetics play a crucial role in distinguishing different types of leukemia.

True Signup and view all the answers

Myeloblasts are generally characterized by fewer granules than lymphoblasts.

False Signup and view all the answers

Acute myeloid leukemia is more prevalent in individuals younger than 60 years.

False Signup and view all the answers

Neutropenia is uncommon in acute leukemia patients.

False Signup and view all the answers

Platelet counts usually exceed normal ranges in patients with acute leukemia.

False Signup and view all the answers

More than 80% of children with B-ALL and T-ALL are cured with combination chemotherapy regimens.

True Signup and view all the answers

The BCR-ABL fusion gene is a defining feature in chronic lymphocytic leukemia.

False Signup and view all the answers

Acute promyelocytic leukemia is characterized by the presence of numerous needle-like Auer rods.

True Signup and view all the answers

B-ALL and T-ALL are primarily treated with targeted therapy rather than combination chemotherapy.

False Signup and view all the answers

The presence of abnormally coarse and numerous granules in promyelocytic cells is a hallmark of acute promyelocytic leukemia.

True Signup and view all the answers

The two molecular subtypes of acute leukemia are defined solely by clinical presentation.

False Signup and view all the answers

Children with acute myeloid leukemia (AML) experience cure rates higher than those with acute lymphoblastic leukemia (ALL).

False Signup and view all the answers

Acute leukemia is categorized into two main subtypes based on the presence of the BCR-ABL fusion gene.

True Signup and view all the answers

How do EBV-positive B cells escape the immune response and what is the consequence of this evasion?

EBV-positive B cells escape the immune response by downregulating the expression of cell surface protein markers and specific gene aberrations. This leads to the persistence of infected B cells and the development of hematological malignancies. Signup and view all the answers

What is the significance of downregulation of cell surface protein markers in EBV-infected B cells?

Downregulation of cell surface protein markers in EBV-infected B cells allows them to evade the immune response and persist in the host, leading to the development of hematological malignancies. Signup and view all the answers

How does immunosuppression contribute to the development of EBV-positive hematological malignancies?

Immunosuppression can lead to the development of EBV-positive hematological malignancies by allowing EBV-infected B cells to escape the immune response and proliferate unchecked. Signup and view all the answers

What is the relationship between EBV infection and the development of hematological malignancies?

EBV infection can lead to the development of hematological malignancies by causing infected B cells to proliferate and accumulate genetic mutations, eventually leading to cancer. Signup and view all the answers

Why are hematological malignancies more common in immunocompromised individuals?

Hematological malignancies are more common in immunocompromised individuals because their weakened immune system allows EBV-infected B cells to escape immune recognition and proliferate unchecked. Signup and view all the answers

How does the JAK2 mutation contribute to the development of hematological malignancies?

The JAK2 mutation can contribute to the development of hematological malignancies by driving the proliferation of hematopoietic cells and leading to the accumulation of genetic mutations. Signup and view all the answers

What is the significance of genetic mutations in the development of hematological malignancies?

Genetic mutations are a key feature of hematological malignancies, allowing cancer cells to proliferate and accumulate additional mutations, leading to disease progression. Signup and view all the answers

How do targeted therapies impact the treatment of hematological malignancies?

Targeted therapies can significantly impact the treatment of hematological malignancies by specifically inhibiting key molecular pathways driving the growth and survival of cancer cells. Signup and view all the answers

What is the characteristic of small lymphocytic lymphoma/chronic lymphocytic leukemia?

Occurs in older adults; usually involves lymph nodes, marrow, spleen, and peripheral blood; indolent Signup and view all the answers

What is the hallmark of follicular lymphoma?

Translocations involving BCL2 Signup and view all the answers

What is the primary site of origin for extranodal marginal zone lymphoma?

Sites of chronic inflammation Signup and view all the answers

What is the characteristic of diffuse large B-cell lymphoma?

Heterogeneous; may arise at extranodal sites; variably associated with translocations involving BCL2, BCL6, and MYC Signup and view all the answers

What is the characteristic of Burkitt lymphoma?

Usually arises at extranodal sites; translocations involving MYC in virtually all cases Signup and view all the answers

What is the characteristic of hairy cell leukemia?

Spleen and marrow involvement; most cases have BRAF mutations; indolent Signup and view all the answers

What is the characteristic of adult T-cell leukemia/lymphoma?

Usually presents with lymph node and blood involvement; uniformly associated with HTLV-1 infection; frequent hypercalcemia; aggressive Signup and view all the answers

What is the characteristic of peripheral T-cell lymphoma?

Heterogeneous; often associated with systemic symptoms stemming from cytokine release; aggressive Signup and view all the answers

What is the characteristic of mantle cell lymphoma?

Translocations involving the cyclin D1 gene; presents with generalized lymphadenopathy; moderately aggressive Signup and view all the answers

What is the common feature of non-Hodgkin lymphomas and chronic lymphoid leukemias?

Derived from mature B cells or T cells; often indolent Signup and view all the answers

What is the significance of increased lymphocytes in diagnosing chronic lymphocytic leukemia (CLL)?

Increased lymphocytes indicate a proliferation of atypical lymphocytes, which is a characteristic of CLL. Signup and view all the answers

What markers are typically expressed by the B-cell population associated with chronic lymphocytic leukemia?

Markers such as CD20 and CD5 are commonly expressed by B-cells in CLL. Signup and view all the answers

Why is a tissue biopsy of an enlarged lymph node required for diagnosing small lymphocytic lymphoma (SLL)?

A tissue biopsy confirms the diagnosis by revealing characteristic lymphocytic infiltration. Signup and view all the answers

What generally contributes to the good prognosis in chronic lymphocytic leukemia (CLL)?

The indolent nature of the disease allows for a slow progression and better management options. Signup and view all the answers

Which immunophenotypic characteristics are common in the B-cell populations of CLL?

The B-cell populations in CLL often express surface immunoglobulin and specific T-cell markers. Signup and view all the answers

What role does cytometry play in confirming a diagnosis of chronic lymphocytic leukemia?

Cytometry reveals alterations in lymphocyte populations and confirms the presence of atypical cells. Signup and view all the answers

What unusual characteristic may sometimes be seen in small lymphocytic lymphoma?

Small lymphocytic lymphoma may express markers that overlap with normal T-cells. Signup and view all the answers

Explain why, despite the fact that CLL/SLL is an indolent, slowly growing tumor, it is often considered a serious condition.

The slow growth of CLL/SLL can be deceptive. While the tumor is slow-growing, it can eventually lead to significant complications, such as anemia, infections, and even death. Furthermore, the progression of the disease can be unpredictable, with some patients experiencing rapid worsening of their condition. The treatment options for CLL/SLL are also limited, and the disease can be difficult to manage. Signup and view all the answers

What is a potential histological feature observed in the lymph nodes of patients with small lymphocytic lymphoma?

The presence of diffuse infiltrates of small lymphocytes is a potential histological feature. Signup and view all the answers

Although CLL/SLL is often referred to as a "leukemia," what aspect of the disease makes it more accurately categorized as a "lymphoma?"

While CLL/SLL is classified as a leukemia due to its origin in the bone marrow, its primary manifestation is often the formation of masses in lymph nodes and other tissues, a characteristic more typical of lymphomas. Signup and view all the answers

Explain how CLL/SLL cell survival is influenced by Bcl2, and what implications this has for treatment strategies.

CLL/SLL cells express high levels of Bcl2, a protein that inhibits apoptosis. This means the cells are less prone to programmed cell death, contributing to their slow but persistent growth. Treatment strategies that target Bcl2, such as venetoclax, can overcome this survival mechanism and induce apoptosis in CLL/SLL cells. Signup and view all the answers

What is the significance of B-cell receptor (BCR) expression in CLL/SLL, and how does it relate to the diagnosis of the disease?

The BCR is a surface marker on B cells that plays a role in immune recognition. CLL/SLL cells often express unique or abnormal BCRs, contributing to their aberrant behavior and survival. This abnormal BCR expression is a key diagnostic feature of the disease and can be used to distinguish it from other types of leukemia and lymphoma. Signup and view all the answers

Discuss the differences between the "leukemia" and "lymphoma" manifestations of CLL/SLL, and how these differences might influence treatment decisions.

CLL/SLL can manifest as either a leukemia, with an overgrowth of cells in the blood, or as a lymphoma, with the formation of masses in lymph nodes and other tissues. This distinction is important for treatment decisions, as therapies targeted at leukemia cells may not be as effective against lymphoma cells, and vice versa. The specific manifestation of the disease will influence the choice of treatment and monitoring strategies. Signup and view all the answers

What are the implications of CLL/SLL's lower prevalence in Asia compared to the Western world?

The lower prevalence of CLL/SLL in Asia, despite its common occurrence in Western populations, suggests a possible role of environmental or genetic factors in its development. Understanding these factors could lead to identifying potential risk factors and developing strategies to prevent the disease. Signup and view all the answers

Why is tumor cell survival a more critical factor in CLL/SLL treatment than tumor cell proliferation?

Unlike many other cancers that rely on rapid cell division for growth, CLL/SLL is characterized by slow proliferation but significant cell survival. This means that inhibiting cell proliferation may have limited impact, while targeting survival mechanisms, such as Bcl2, is more effective in controlling the disease. Signup and view all the answers

Discuss the potential role of genetic and environmental factors in the development of CLL/SLL, and how these factors might influence the disease's geographic variation.

The development of CLL/SLL is likely influenced by a combination of genetic predisposition and environmental factors, such as exposure to certain chemicals or viruses. These factors could explain the variation in CLL/SLL prevalence across different regions, with higher rates in Western populations compared to Asian populations. Further research is needed to understand the specific environmental and genetic factors contributing to the development of CLL/SLL. Signup and view all the answers

Explain the paradoxical relationship between the accumulation of CLL/SLL cells and the functioning of the adaptive immune system.

While CLL/SLL cells disrupt the adaptive immune system by suppressing normal B-cell function and leading to immunodeficiency, they can also contribute to autoimmunity, possibly through mechanisms related to immune tolerance. Signup and view all the answers

Describe the role of Bruton tyrosine kinase (BTK) in the context of CLL/SLL.

BTK, a key signaling molecule involved in B-cell development and function, appears to be dysregulated in CLL/SLL. This dysregulation can lead to aberrant signaling pathways and contribute to the survival and proliferation of CLL/SLL cells. Signup and view all the answers

Explain how the accumulation of CLL/SLL cells contributes to the development of immunodeficiency and autoimmunity.

The accumulation of CLL/SLL cells can lead to immunodeficiency by suppressing normal B-cell function and interfering with antibody production. This suppression, along with the potential for autoimmune responses, can result in increased susceptibility to infections and autoimmune diseases. Signup and view all the answers

Explain the role of the NF-κB transcription factor in the context of CLL/SLL.

NF-κB, a transcription factor known for its role in regulating immune responses and cell survival, is often dysregulated in CLL/SLL. This dysregulation can contribute to the survival and proliferation of CLL/SLL cells by promoting the expression of genes that support their growth. Signup and view all the answers

Discuss the potential relationship between the presence of Epstein-Barr virus (EBV) and the development of lymphoid neoplasms.

Although the exact relationship is not fully understood, the content suggests a possible link between EBV and lymphoid neoplasms, particularly those associated with EBV-encoded proteins. This link is supported by the observation that EBV-infected cells can undergo uncontrolled proliferation, potentially contributing to the development of neoplastic growths. Signup and view all the answers

Describe the significance of the presence of autoantibodies in patients with CLL/SLL.

The presence of autoantibodies in patients with CLL/SLL, particularly those directed against their own red cells or platelets, suggests an autoimmune component to the disease. These autoantibodies, produced by non-malignant B cells, indicate a breakdown of immune tolerance, potentially contributing to the overall disease progression. Signup and view all the answers

Why are patients with inherited or acquired immunodeficiencies at increased risk for developing lymphoid neoplasms, specifically those associated with EBV?

Individuals with compromised immune systems, such as those with immunodeficiencies, may be more susceptible to EBV infection and the development of EBV-associated lymphoid neoplasms. This increased vulnerability likely stems from the inability of their weakened immune systems to effectively control EBV replication and prevent the development of neoplastic growth. Signup and view all the answers

How does the localization of CLL/SLL cells in the body relate to their impact on the immune system?

Although CLL/SLL cells can be localized to specific areas of the body, their impact on the immune system is widespread. They can suppress normal B-cell function, leading to immunodeficiency, and also contribute to autoimmunity, potentially affecting various immune processes throughout the body. Signup and view all the answers

Infectious _______________ is an acute, self-limited disease caused by Epstein-Barr virus infection.

mononucleosis Signup and view all the answers

Epstein-Barr virus is a member of the _______________ family.

herpesvirus Signup and view all the answers

The diagnosis of Infectious mononucleosis depends on _______________ findings.

laboratory Signup and view all the answers

EBV infection resolves within _______________ weeks in most patients.

4-6 Signup and view all the answers

Nearly universal EBV infection is seen in _______________ children.

early Signup and view all the answers

Infectious mononucleosis is characterized by _______________ lymphadenitis.

reactive Signup and view all the answers

Most people remain _______________ after EBV infection.

asymptomatic Signup and view all the answers

EBV infection can lead to _______________ in the spleen.

rupture Signup and view all the answers

Symptoms related to marrow replacement and expansion and attendant panc-

ytopenia Signup and view all the answers

One pa_in resulting from marrow expansion and inf_ltration is _ne

bone Signup and view all the answers

Lymphaden_opathy, sple_omegaly, and hepaque_omegaly are more common and more pronounced in ALL th_n AML

lymph Signup and view all the answers

Tes_ucular en_largement due to leukem_c in_filtra_on

ticular Signup and view all the answers

In AML, the characteristic skin and gum lesions, most characteristic of monoc_ytic d_ferentiat_on

monocytic Signup and view all the answers

In T-ALL, w_th _ymph_c in_volvement, compression of large vessels and airways in the medi_st_n_m

thymic Signup and view all the answers

Central ner_vous syst_m manifestations, resulting from men_ng_eal spread, such as head_ch_, vomiting, and ner_ve palsy

nervous Signup and view all the answers

Treatment of acute ______ varies according to sub_type

leukemia Signup and view all the answers

LymphNode en_largement, sple_nomegaly, and hepaque_omegaly are more common and more pronounced in ALL th_n AML

lymph Signup and view all the answers

In AML, the characteristic skin and gum lesions, most characteristic of monoc_ytic d_ferentiat_on

monocytic Signup and view all the answers

Causative agents can often only be distinguished by ______.

immunophenotyping Signup and view all the answers

Among the most common driver mutations in all ______ types.

leukemia Signup and view all the answers

The marrow, spleen, and ______ are also involved in some cases of CLL.

liver Signup and view all the answers

Many driver mutations in B-cell malignancies consist of ______ and classical-translocation-associated oncogene activations.

intrasignature Signup and view all the answers

Acute myeloid leukemia (AML) often arises from a preexisting ______.

disorder Signup and view all the answers

These circulating cells are immature, absolute ______cytosis, mature-looking lymphocytes.

lympho Signup and view all the answers

Anemia is almost always ______ in leukemia cases.

present Signup and view all the answers

These cells can cause ______ and immunoglobulin genes to proto-oncogenes.

immunoglobulin Signup and view all the answers

The platelet count in patients with leukemia is usually below ______.

100,000/μL Signup and view all the answers

The classic classification of non-Hodgkin lymphomas and chronic ______ lymphomas are also disrupted on the basis of morphological features.

lymphoid Signup and view all the answers

Neutropenia is commonly ______ in patients with acute leukemia.

observed Signup and view all the answers

Po Bloody smudge cells are often seen in ______ lymphomas.

chronic Signup and view all the answers

Base pair substitutions are often seen in ______ rearrangements.

gene Signup and view all the answers

The morphology of leukemia cells, including ______ and cytochemical features, is essential for accurate diagnosis.

immunophenotype Signup and view all the answers

A common feature of acute leukemia includes alterations in ______ factors.

transcription Signup and view all the answers

In primary myelofibrosis, the bone marrow is replaced by ______ connective tissue.

collagenous Signup and view all the answers

In primary myelofibrosis, the ______ blood smear shows two nucleated red cells.

peripheral Signup and view all the answers

Fibrosis is caused by pro-fibrogenic factors such as platelet-derived growth factor and ______.

TGF-β Signup and view all the answers

Several ______-shaped red blood cells are evident in the peripheral blood smear of patients with primary myelofibrosis.

teardrop Signup and view all the answers

TGF-β promotes angiogenesis as well as ______ deposition.

collagen Signup and view all the answers

An identical histological picture can be seen in other diseases producing marrow ______ and fibrosis.

distortion Signup and view all the answers

The presence of ______ megakaryocytes is a characteristic of primary myelofibrosis.

immature Signup and view all the answers

If a patient has a white blood cell count of less than 5000 cells/μL, they are diagnosed with ______.

CLL Signup and view all the answers

Some general aspects of malignancies of mature lymphoid cells bear on the ______ of leukemia.

treatment Signup and view all the answers

Match the following types of leukemia with their characteristic features:

AML = Gene rearrangements and base pair substitutions ALL = Marrow replacement by lymphoid blasts B-ALL = Can only be distinguished by immunophenotyping CML = Disordered differentiation leading to increased cell production Signup and view all the answers

Match the following laboratory findings with the corresponding hematological malignancy:

High white blood cell count = CML Low platelet count = Primary myelofibrosis Anemia = AML Elevated hemoglobin = Polycythemia vera Signup and view all the answers

Match the following molecular features with the corresponding hematological malignancy:

BCR-ABL fusion gene = CML JAK2 mutation = Polycythemia vera Gene rearrangements = AML TGF-β = Primary myelofibrosis Signup and view all the answers

Match the following clinical outcomes with the corresponding hematological malignancy:

Cure with combination chemotherapy = B-ALL and T-ALL Transition to acute leukemia = CML Marrow distortion = Primary myelofibrosis Angiogenesis and collagen deposition = Polycythemia vera Signup and view all the answers

Match the following histological features with the corresponding hematological malignancy:

Auer rods in blasts = AML Marrow replacement by lymphoid blasts = ALL Fibrosis = Primary myelofibrosis Megakaryocytic anemia = CML Signup and view all the answers

Match the following symptoms with the corresponding hematological malignancy:

Anemia = AML Neutropenia = CML Mediastinal involvement = T-ALL Fatigue = Polycythemia vera Signup and view all the answers

Match the following treatments with the corresponding hematological malignancy:

Targeted therapy = CML Combination chemotherapy = B-ALL and T-ALL Immunophenotyping = B-ALL Supportive care = Primary myelofibrosis Signup and view all the answers

Match the following molecular mechanisms with the corresponding hematological malignancy:

Disordered differentiation = CML JAK2 kinase activity = Polycythemia vera TGF-β signaling = Primary myelofibrosis Gene mutations = AML Signup and view all the answers

Match the following types of acute leukemias with their descriptions:

Acute Lymphoblastic Leukemia (ALL) = Neoplastic proliferation of immature hematopoietic cells that often replace normal marrow elements, leading to symptoms related to marrow failure. Acute Myeloid Leukemia (AML) = Diverse group of neoplastic proliferations of immature hematopoietic cells that often replace normal marrow elements, leading to symptoms related to marrow failure. B-ALL = Acute leukemia characterized by frequent mediastinal involvement. T-ALL = Acute leukemia characterized by marrow replacement by lymphoid blasts. Signup and view all the answers

Match the following terms with their definitions:

B-cells = Immature hematopoietic cells that often replace normal marrow elements, leading to symptoms related to marrow failure. T-cells = Neoplastic proliferation of immature hematopoietic cells that often replace normal marrow elements, leading to symptoms related to marrow failure. Blasts = Immature hematopoietic cells that are referred to as blasts. Myeloid cells = Immature hematopoietic cells that are referred to as myeloid cells. Signup and view all the answers

Match the following acute leukemias with their subtypes:

Acute Lymphoblastic Leukemia (ALL) = B-ALL and T-ALL Acute Myeloid Leukemia (AML) = M0, M1, M2, M3, M4, M5, M6, M7 B-ALL = T-ALL and AML T-ALL = B-ALL and AML Signup and view all the answers

Match the following acute leukemias with their characteristics:

B-ALL = Frequent mediastinal involvement T-ALL = Marrow replacement by lymphoid blasts Acute Lymphoblastic Leukemia (ALL) = Complete replacement of the bone marrow by lymphoid blasts Acute Myeloid Leukemia (AML) = Neoplastic proliferation of immature hematopoietic cells that often replace normal marrow elements, leading to symptoms related to marrow failure. Signup and view all the answers

Match the following acute leukemias with their primary cell types:

Acute Lymphoblastic Leukemia (ALL) = Lymphoid cells Acute Myeloid Leukemia (AML) = Myeloid cells B-ALL = B-cells T-ALL = T-cells Signup and view all the answers

Match the following acute leukemias with their primary symptoms:

Acute Lymphoblastic Leukemia (ALL) = Symptoms related to marrow failure Acute Myeloid Leukemia (AML) = Symptoms related to marrow failure B-ALL = Frequent mediastinal involvement T-ALL = Marrow replacement by lymphoid blasts Signup and view all the answers

Match the following cell types with their primary functions:

B-cells = Cell-mediated immunity T-cells = Humoral immunity Myeloid cells = Production of white blood cells Lymphoid cells = Production of antibodies Signup and view all the answers

Match the following acute leukemias with their primary treatments:

Acute Lymphoblastic Leukemia (ALL) = Combination chemotherapy Acute Myeloid Leukemia (AML) = Targeted therapy B-ALL = Combination chemotherapy T-ALL = Targeted therapy Signup and view all the answers

Match the following hematological malignancies with their characteristic features:

Polycythemia Vera = Complete replacement of bone marrow by lymphoid blasts Chronic Lymphoid Leukemia = Frequent mediastinal involvement Primary Myelofibrosis = Characterized by a wde variety of hematological malignancies Acute Myeloid Leukemia = Presence of Auer rods in the blasts Signup and view all the answers

Match the following laboratory findings with their corresponding hematological malignancies:

Granulocytosis = Chronic Myeloid Leukemia Basophilia = Acute Lymphoblastic Leukemia Thrombocytosis = Polycythemia Vera Lymphocytosis = Chronic Lymphoid Leukemia Signup and view all the answers

Match the following genetic mutations with their corresponding hematological malignancies:

JAK2 mutations = Polycythemia Vera BCR-ABL fusion gene = Chronic Myeloid Leukemia TGF-β = Primary Myelofibrosis Non-specific genetic mutations = Acute Myeloid Leukemia Signup and view all the answers

Match the following treatment options with their corresponding hematological malignancies:

Targeted therapy = Chronic Myeloid Leukemia Combination chemotherapy = Acute Lymphoblastic Leukemia Stem cell transplantation = Primary Myelofibrosis Supportive care = Polycythemia Vera Signup and view all the answers

Match the following hematological malignancies with their median age of onset:

Polycythemia Vera = 60 years Chronic Lymphoid Leukemia = 50 years Primary Myelofibrosis = 70 years Acute Myeloid Leukemia = 40 years Signup and view all the answers

Match the following histological features with their corresponding hematological malignancies:

Bone marrow fibrosis = Primary Myelofibrosis Marrow replacement by lymphoid blasts = Acute Lymphoblastic Leukemia Hypercellular bone marrow = Polycythemia Vera Hypocellular bone marrow = Acute Myeloid Leukemia Signup and view all the answers

Match the following clinical outcomes with their corresponding hematological malignancies:

Cure = Acute Lymphoblastic Leukemia Chronic phase = Chronic Myeloid Leukemia Blast crisis = Primary Myelofibrosis Survival of 10-15 years = Polycythemia Vera Signup and view all the answers

Match the following laboratory tests with their corresponding diagnostic purposes:

JAK2 mutation analysis = Diagnosis of Polycythemia Vera BCR-ABL fusion gene analysis = Diagnosis of Chronic Myeloid Leukemia Bone marrow biopsy = Diagnosis of Primary Myelofibrosis Complete Blood Count = Diagnosis of Acute Myeloid Leukemia Signup and view all the answers

Match the following laboratory findings with the corresponding hematological disorder:

Teardrop-shaped red cells = Primary myelofibrosis Auer rods in blasts = Acute myeloid leukemia Erythroid precursors = Myelodysplastic syndrome Lymphoid blasts = Chronic lymphocytic leukemia Signup and view all the answers

Match the following cytokines with their functions in primary myelofibrosis:

TGF-β = Promotes angiogenesis and collagen deposition JAK2 = Regulates hematopoiesis PDGF = Stimulates megakaryocyte growth FGF = Inhibits fibroblast proliferation Signup and view all the answers

Match the following genetic mutations with the corresponding hematological disorders:

JAK2 = Polycythemia vera BCR-ABL = Chronic myeloid leukemia TGF-β = Primary myelofibrosis FLT3 = Acute myeloid leukemia Signup and view all the answers

Match the following histological features with the corresponding hematological disorders:

Marrow replacement by lymphoid blasts = Acute lymphoblastic leukemia Fibrosis and collagen deposition = Primary myelofibrosis Increased megakaryocytes = Polycythemia vera Dysplastic hematopoiesis = Myelodysplastic syndrome Signup and view all the answers

Match the following clinical features with the corresponding hematological disorders:

Mediastinal involvement = Acute lymphoblastic leukemia Splenomegaly = Chronic lymphocytic leukemia Erythromelalgia = Polycythemia vera Anemia and thrombocytopenia = Primary myelofibrosis Signup and view all the answers

Match the following therapeutic approaches with the corresponding hematological disorders:

Combination chemotherapy = Acute lymphoblastic leukemia Targeted therapy (JAK2 inhibitor) = Polycythemia vera Stem cell transplantation = Acute myeloid leukemia Management of symptoms = Chronic lymphocytic leukemia Signup and view all the answers

Match the following laboratory findings with the corresponding hematological disorders:

Increased WBC count = Chronic myeloid leukemia Nucleated RBCs = Primary myelofibrosis Lymphocytosis = Chronic lymphocytic leukemia Immature myeloid cells = Acute myeloid leukemia Signup and view all the answers

Match the following molecular mechanisms with the corresponding hematological disorders:

Disordered differentiation = Chronic myeloid leukemia Angiogenesis and collagen deposition = Primary myelofibrosis Uncontrolled proliferation = Acute lymphoblastic leukemia Impaired apoptosis = Chronic lymphocytic leukemia Signup and view all the answers

Match the following immunophenotyping markers with their associated cell lineages:

TdT = Early B and T cell progenitors Myeloperoxidase = Myeloid cells CD19 = B lymphocytes CD3 = T lymphocytes Signup and view all the answers

Match the following types of leukemia with their typical cytogenetic findings:

Acute Myeloid Leukemia = Chromosomal translocations involving MLL Chronic Lymphocytic Leukemia = 11q deletions Follicular Lymphoma = t(14;18) translocation Acute Lymphoblastic Leukemia = t(9;22) BCR-ABL fusion Signup and view all the answers

Match the following hematological traits with their corresponding conditions:

Hypercellular bone marrow = Acute Leukemia Fibrosis in the marrow = Primary Myelofibrosis Leukocytosis = Chronic Myeloid Leukemia Auer rods in blasts = Acute Myeloid Leukemia Signup and view all the answers

Match the following cytogenetic disorders with their associated clinical manifestations:

t(15;17) = Acute Promyelocytic Leukemia t(9;22) = Chronic Myeloid Leukemia t(8;21) = Acute Myeloid Leukemia Del(13q) = Chronic Lymphocytic Leukemia Signup and view all the answers

Match the following types of leukemia with their typical age of onset:

Acute Lymphoblastic Leukemia = Childhood Chronic Myeloid Leukemia = Middle-aged adults Acute Myeloid Leukemia = Older adults Chronic Lymphocytic Leukemia = Elderly Signup and view all the answers

Match the following diagnostic methods with their respective roles:

Flow Cytometry = Identifying antigen expression on cells Cytogenetic Analysis = Detecting chromosomal abnormalities Bone Marrow Biopsy = Assessing cellularity and fibrosis Peripheral Blood Smear = Evaluating blood cell morphology Signup and view all the answers

Match the following mutations with their related disease:

JAK2 V617F = Polycythemia Vera BCR-ABL = Chronic Myeloid Leukemia TP53 = Chronic Lymphocytic Leukemia NPM1 = Acute Myeloid Leukemia Signup and view all the answers

Match the following findings with their associated clinical feature:

Splenomegaly = Myeloproliferative disorders Cytopenias = Myelodysplastic syndromes Night sweats = Lymphoproliferative disorders Bone pain = Leukemia Signup and view all the answers

Study Notes

Acute Leukemias and Myeloid Neoplasms

B-cell Acute Lymphoblastic Leukemia (B-ALL): Originates from immature B cells; characterized by marrow replacement by lymphoid blasts and absence of Auer rods. Common mutations include transcription factor genes, particularly BCR-ABL fusion due to translocations.
T-cell Acute Lymphoblastic Leukemia (T-ALL): Arises from immature T cells; includes similar features to B-ALL with lymphoid blasts and mediastinal involvement. Translocations affecting transcription factors and signaling molecules are often seen.
Acute Myeloid Leukemia (AML): Originates from hematopoietic stem cells or early myeloid progenitors; presents with myeloid blasts, often with Auer rods. Common mutations involve transcription factor genes and signaling molecules, such as RARA.
Myelodysplastic Syndrome (MDS): Involves dysplastic marrow progenitors and peripheral blood elements. Mutations target epigenetic regulators, RNA splicing factors, and transcription factors.

Chronic Myeloid Leukemia (CML): Derives from hematopoietic stem cells, shows increased granulocytic precursors, leukocytosis, and splenomegaly. A hallmark mutation is the BCR-ABL fusion gene associated with ABL tyrosine kinase.
Polycythemia Vera (PV): Arises from early myeloid progenitors, characterized by increased marrow elements and polycythemia, with activating mutations in the JAK2 tyrosine kinase gene.
Primary Myelofibrosis (PMF): Also from early myeloid progenitors, features increased atypical megakaryocytes, marrow fibrosis, and leukoerythroblastosis. JAK2 or MPL mutations are common, along with CALR gene mutations.

Treatment and Outcomes

Treatments often involve combination chemotherapy, varying for ALL and AML.
Over 80% of children with B-ALL and T-ALL can achieve cures with current therapies.
Targeted therapies have transformed disease management, significantly improving clinical outcomes.

Clinical Features

CML presents insidiously; symptoms may be nonspecific initially, including splenomegaly and fatigue.
PMF shows unique blood smear features with teardrop-shaped red cells indicating marrow distortion and fibrosis.
The presence of large pleomorphic megakaryocytes in PMF is crucial for diagnosis, driven by pro-fibrogenic factors like TGF-beta.

B Cell Infections

B cell infections can occur in two forms: minor infections typically lead to lytic replication and virus release, while most occurrences are nonproductive where the virus persists in a latent form.
EBV-encoded proteins expressed in B cells can have crucial roles in infection and potential neoplastic transformations.

Neoplastic Proliferations of White Cells

Important disorders of white cells include neoplasms, which cause infected cells to stimulate proliferation of uninfected cells.
Neoplasms can vary significantly in clinical behavior and can be benign to highly malignant.

Hematological Malignancies

These malignancies are common and can occur at any age.
Annually, around 150,000 new hematologic malignancies are diagnosed in the United States.
Symptoms often relate to anemia and thrombocytopenia, along with associated immune deficiency due to neutropenia.

Myelodysplastic Syndromes

Myelodysplastic syndromes often evolve into acute myeloid leukemia (AML) and can present with long-lasting prodromal symptoms.
Symptoms are primarily related to anemia, weakness, and fatigue, often leading to bone marrow failure.

Acute Myeloid Leukemia (AML)

Most common in individuals over 60 years old; often arises from preexisting hematologic abnormalities.
Characteristic mutations include gene rearrangements and base pair substitutions, differentiating it from acute lymphoblastic leukemia (ALL).
Anemia is persistent; platelet counts typically fall below 100,000/μL, while neutropenia is prevalent.

Treatment and Outcomes

Combination chemotherapy is standard for treating ALL and AML, with over 80% cure rates in children with B-ALL and T-ALL.
Advanced therapies have shown high effectiveness in treating these malignancies.

Specific Variants of AML

Acute promyelocytic leukemia (APL) is a subtype of AML characterized by the presence of abnormal promyelocytes with numerous granules.
Key diagnostic features include the identification of needle-like Auer rods.

Diagnostic Findings

Laboratory studies typically show hypercellularity in the bone marrow due to increased cellular proliferation.
Anemia and associated symptoms such as fever, weight loss, and nocturnal sweats are common clinical presentations observed during diagnosis.

Complications

Patients may experience hyperuricemia and gout due to high cell turnover in advanced disease stages.
Laboratory tests reveal moderate to severe normocytic anemia along with thrombocytopenia and leukocytosis, reflecting the underlying hematologic disorder.

Immune Response and Neoplasms

CD8+ cytotoxic T cells play a crucial role in controlling viral infections and identifying specific antigens.
Classification systems for white cell neoplasms often depend on the morphology of affected cells.
EBV-infected B cells can evade immune detection by downregulating protein markers and exhibiting specific genetic abnormalities.

Chronic Lymphocytic Leukemia (CLL) and Small Lymphocytic Lymphoma (SLL)

CLL is the most common leukemia in adults, characterized by the proliferation of monoclonal B lymphocytes.
CLL/SLL typically presents with lymphocytosis in peripheral blood and can involve lymph nodes and bone marrow.
CLL/SLL cells express high levels of the anti-apoptotic protein BCL-2, aiding cell survival.

Geographic Variations

CLL/SLL is less prevalent in Asia compared to Western countries.
The disease presents in distinct patterns, with leukemias generally arising in the bone marrow compared to lymphomas presenting as tissue masses.

Diagnosis and Prognosis

Diagnosis relies on morphological examination and immunophenotyping (e.g., presence of B-cell receptor).
Characteristic markers include CD5 and CD23, utilized to differentiate CLL/SLL from other leukemias.
The prognosis for CLL is generally favorable, with a median survival exceeding 10 years in asymptomatic patients.

Patients with compromised immune systems (e.g., those with AIDS or organ transplant recipients) have a higher risk of developing lymphoproliferative disorders.
Individuals may develop autoimmune conditions, increasing the risk of lymphoid neoplasms like those associated with EBV.

Disease Classification and Characteristics

Non-Hodgkin Lymphomas and leukemias can be categorized based on their cell of origin and associated characteristics:
- Small Lymphocytic Lymphoma (SLL) / Chronic Lymphocytic Leukemia (CLL) - Mature B cell; indolent; involves lymph nodes.
- Follicular Lymphoma - Germinal center B cell; characterized by translocations involving BCL2; indolent.
- Mantle Cell Lymphoma - Naïve mature B cell; moderate aggression with cyclin D1 gene involvement.
- Diffuse Large B-cell Lymphoma - Heterogeneous; aggressive; can arise from extranodal sites.
- Burkitt Lymphoma - Associated with aggressive MYC translocations and often linked to EBV.
- Hairy Cell Leukemia - Indolent; often has BRAF mutations, affecting the spleen and bone marrow.
- Adult T-cell Leukemia/Lymphoma - Arises from CD4-positive T cells; aggressive and linked to HTLV-1 infections.

Key Terminology and Features

"Leukemia" refers to blood-based malignancies often emerging from bone marrow, while "lymphoma" generally signifies tissue-based tumors.
Immunotherapy against CD20 has become a treatment option for CLL/SLL, enhancing patient management.
Understanding tumor markers is critical for appropriate diagnosis and therapy, given their role in tissue tropism and immune evasion.

Infectious Mononucleosis

Caused by Epstein-Barr virus (EBV), a member of the herpesvirus family.
Common symptoms include atypical lymphocytosis and reactive lymphadenopathy.
Diagnosis relies on specific criteria: atypical lymphocytosis, positive heterophile antibody test, and increasing titers of antibodies for EBV.
Typically presents as an acute self-limited infection in adolescents and young adults.
Most cases resolve within 4-6 weeks, though fatigue can persist.
Splenic enlargement increases the risk of spleen rupture, even with minor trauma.
The infection is nearly universal in early childhood.

Reactive Lymphadenitis

Characterized by swollen lymph nodes reacting to EBV infection.
Most infected individuals remain asymptomatic despite the infection.
Reactive lymphadenitis can be confused with conditions like B-ALL (B-cell Acute Lymphoblastic Leukemia), requiring immunophenotyping for distinction.

Acute Myeloid Leukemia (AML) vs. Acute Lymphoblastic Leukemia (ALL)

AML commonly seen in individuals over 60, while ALL primarily affects children.
AML is often related to pre-existing hematologic disorders and shows specific genetic mutations, such as gene rearrangements.
Symptoms in AML may include anemia, thrombocytopenia, and neutropenia.
Lympadenopathy, splenomegaly, and hepatomegaly are more pronounced in ALL compared to AML.
In T-ALL, conditions like thymic enlargement and potential compression of major vessels occur.

Examination Findings in Leukemia

Blood smear may show teardrop-shaped red cells and immature myeloid cells.
Fibrosis in the bone marrow can lead to extramedullary hematopoiesis.
A significant increase in white blood cell count (>100,000 cells/μL) can indicate leukemia.
Common findings may include compliance to oncogenes and genetic mutations driving malignancy.

Clinical Features of Chronic Lymphocytic Leukemia (CLL)

CLL typically presents with a high count of small, mature-appearing lymphocytes.
Patients often have a history of recurrent infections due to immune compromise.
Classic diagnostic features include the appearance of smudge cells in blood smears.

Treatment Considerations

Treatment varies according to specific leukemia subtype, including chemotherapeutic approaches tailored to genetic findings.
Monitoring for signs of leukostasis in patients with significantly elevated white blood cell counts is vital.
Key symptoms of severe forms may include neurological manifestations and systemic symptoms due to leukemic infiltration.

Acute Leukemias

Acute leukemias are neoplastic proliferations of immature hematopoietic cells, disrupting normal marrow function.
Symptoms often arise from marrow failure, including anemia, thrombocytopenia, and neutropenia.
Subclassified into B-cell acute lymphoblastic leukemia (B-ALL), T-cell acute lymphoblastic leukemia (T-ALL), and acute myeloid leukemia (AML).
In ALL, maturation is arrested at the early B or T cell differentiation stages, leading to a predominance of blasts.
AML typically arises from previous hematologic disorders, with distinct genetic mutations guiding classification.
Basophilia, leukocytosis (>100,000 cells/μL), and anemia are common laboratory findings in acute leukemias.

Pathogenesis

Common mutations in AML involve gene rearrangements and base pair substitutions, mainly in individuals over 60.
AML differs from ALL as it usually develops from preexisting hematologic conditions and transcription factor dysfunction.
Histological identification includes immunophenotyping using antibodies targeting lineage-specific antigens.
Markers like terminal deoxynucleotidyl transferase (TdT) indicate B and T cell progenitors.
Cytogenetic abnormalities play a critical role in diagnosis and prognosis.

Laboratory Findings

Typical features include a high hematocrit (>60%), granulocytosis, and thrombocytosis in acute leukemias.
JAK2 mutations may confirm a diagnosis of hematologic malignancies.
Diagnostic evaluations include peripheral blood smear showing immature myeloid cells and abnormal red blood cell morphology.

Clinical Features

Common complications involve bleeding tendencies and an increased risk of infections due to neutropenia.
Transplantation may offer a curative option for certain patients.
Peripheral blood typically shows teardrop-shaped red blood cells and an increase in nucleated erythroid precursors in myelofibrosis.
Fibrosis causes alteration in marrow architecture, influencing hematopoiesis.

Chronic Lymphocytic Leukemia (CLL)

Characterized by an increase in mature lymphocytes, with a peripheral blood count often exceeding 5000 cells/μL.
Diagnostic criteria hinge on sustained lymphocytosis and immunophenotyping confirming B-cell lineage.

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Description

This quiz covers types of acute leukemias, including B-cell and T-cell acute lymphoblastic leukemia, their origins, characteristics, and common mutations.