Questions and Answers
What is the primary age group affected by Acute Lymphocytic Leukaemia (ALL)?
What signal transduction pathway mutation is associated with T-Cell Acute Lymphoblastic Leukaemia (T-ALL)?
Which cytogenetic finding is commonly associated with Acute Myeloid Leukaemia (AML)?
Which of the following symptoms is NOT typically associated with Acute Lymphocytic Leukaemia?
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What is a primary treatment modality for Acute Lymphoblastic Leukaemia?
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What percentage of individuals with Acute Lymphoblastic Leukaemia has the B-cell subtype?
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Which cell marker is commonly positive in Acute Lymphoblastic Leukaemia?
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What is the prognosis associated with the t(12,21) translocation in B-ALL?
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Which finding is indicative of Acute Lymphocytic Leukaemia (ALL) during diagnosis?
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What is a common cytogenetic finding associated with Acute Myeloid Leukaemia (AML)?
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What aggressive treatment method shows a high remission rate in Acute Lymphoblastic Leukaemia?
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Which immunological marker is positive in Acute Lymphocytic Leukaemia (ALL)?
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Which symptom is typically NOT associated with Acute Lymphocytic Leukaemia (ALL)?
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What defines the pathophysiology of Acute Myeloid Leukaemia (AML)?
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Which type of leukaemia primarily affects children?
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What is a clinical feature of Acute Lymphocytic Leukaemia (ALL)?
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Which treatment is used in the management of Acute Lymphoblastic Leukaemia besides chemotherapy?
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Which characteristic cell morphology is typical for Acute Lymphocytic Leukaemia (ALL)?
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What primary factor contributes to the poor prognosis in B-ALL associated with t(9,22) translocation?
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Which type of leukaemia is most commonly associated with chronic pruritus?
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What is a hallmark sign of Chronic Myeloid Leukaemia (CML)?
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What genetic alteration is commonly involved in Acute Myeloid Leukaemia (AML)?
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What phenomenon can occur as a transformation in Chronic Lymphocytic Leukaemia (CLL)?
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Which symptom is specifically associated with Acute Lymphocytic Leukaemia (ALL)?
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How does the pathophysiology of Acute Myeloid Leukaemia (AML) affect blood cell production?
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What common sign indicates a high risk of bleeding in leukaemia patients?
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Which leukaemia type is primarily characterized by dysfunction in mature B-lymphocytes?
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Which type of leukaemia is primarily characterized by the proliferation of immature granulocytes?
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What chromosomal mutation is primarily associated with Acute Myeloid Leukaemia (AML)?
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Which symptom is a common clinical feature of leukaemia?
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Which type of leukaemia predominantly affects adults and is associated with chromosomal mutations like P53?
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What is a hallmark sign of Chronic Myeloid Leukaemia (CML)?
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Which pathophysiological feature is characteristic of Acute Lymphocytic Leukaemia (ALL)?
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What genetic alteration is specifically associated with Chronic Myeloid Leukaemia (CML)?
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Which of the following is a common treatment option for leukaemia?
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What is the underlying mechanism of mutations in Chronic Lymphocytic Leukaemia (CLL)?
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Which leukaemia type is most commonly associated with a poor prognosis when linked to the t(9,22) translocation?
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What is the primary cellular abnormality in Chronic Myeloid Leukaemia?
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Which chromosomal mutation is associated with worse prognosis in Acute Lymphocytic Leukaemia?
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What is a common complication of Chronic Lymphocytic Leukaemia as it progresses?
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Which feature is characteristic of the pathophysiology of Acute Myeloid Leukaemia?
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What is the effect of the Philadelphia gene in Chronic Myeloid Leukaemia?
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What common dermatological symptom is associated with Chronic Lymphocytic Leukaemia?
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Which age group is primarily affected by Acute Myeloid Leukaemia?
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What genetic alteration can lead to a more aggressive form of Chronic Lymphocytic Leukaemia?
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Which chromosomal mutation is associated with better prognosis in B-ALL?
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What clinical manifestation is specifically indicative of leukemic infiltration in the spleen or liver?
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What is the defining characteristic of cell morphology in Acute Lymphocytic Leukaemia (ALL)?
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What is a common finding in the Complete Blood Count (CBC) of a patient with Acute Lymphocytic Leukaemia (ALL)?
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Which immunological marker is negative in Acute Lymphocytic Leukaemia?
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Which type of leukaemia is primarily characterized by the proliferation of myeloblasts?
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What is a key factor contributing to the poor prognosis in B-ALL associated with t(9,22) translocation?
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What is the primary treatment modality for Acute Myeloid Leukaemia?
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Study Notes
Acute Lymphocytic Leukaemia (ALL)
- Neoplastic proliferation of lymphoblasts in the bone marrow, predominant in children.
- Classified into B-ALL (80% of cases) and T-ALL (20% of cases).
Aetiology
- Chromosome mutations impact prognosis:
- t(12;21) associated with better prognosis in B-ALL.
- t(9;22) linked to worse prognosis in B-ALL.
- NOTCH1 mutations related to T-ALL.
Pathophysiology
- Mutations occur in lymphocyte progenitors (lymphoblasts), resulting in excessive lymphoblast production.
Signs and Symptoms
- Rapid symptom onset, progressing within days to weeks.
- Anaemia manifests as fatigue, pallor, and weakness.
- Thrombocytopenia can lead to disseminated intravascular coagulation (DIC), causing bleeding symptoms such as epistaxis and petechiae.
- Increased susceptibility to infections and fever due to immature leukocytes.
- Hepatosplenomegaly from leukemic infiltration.
- Systemic symptoms: fever, night sweats, and unexplained weight loss.
- Painless lymphadenopathy and bone pain from marrow proliferation.
- Possible airway obstruction from mediastinal/thymic infiltration.
- Signs of superior vena cava syndrome and meningeal leukaemia may be present.
Diagnosis
- Requirement of over 20% lymphoblasts in bone marrow or peripheral blood for diagnosis.
- Complete blood count shows thrombocytopenia, anaemia, and excessive lymphoblasts on the blood smear.
- Cell morphology indicates small to intermediate-sized blasts with irregular nuclei and no Auer rods.
- Immunological markers:
- MPO negative, TdT positive, PAS positive.
- Flow cytometry identifies receptors:
- B-cell ALL markers include CD19, CD20.
- T-cell ALL markers include CD2, CD8, CD3.
- Cytogenetic analysis detects mutations like Philadelphia translocation (20-30% in adults, 5% in children) and t(12;21) through FISH.
Treatment
- Aggressive chemotherapy achieves a 95% remission rate, with a 75% cure rate.
- Tyrosine kinase inhibitors target overactive enzymes causing lymphoblast proliferation.
- Surgical options include bone marrow transplantation.
Acute Myeloid Leukaemia (AML)
- Neoplastic proliferation of myeloblasts in the bone marrow, primarily affecting adults.
Aetiology
- Linked to chromosome mutation translocation t(15;17), detectable through FISH.
Pathophysiology
- Mutations in myeloid progenitors disrupt maturation, promote proliferation, and prevent apoptosis, affecting other blood cell lineages (WBCs, RBCs, platelets).
Leukaemia Cutis
- Myeloid blast infiltration leads to subcutaneous nodes presenting as purple lesions, also known as myeloid sarcoma.
Acute Lymphocytic Leukaemia (ALL)
- Neoplastic proliferation of lymphoblasts in bone marrow primarily affects children.
- Chromosome mutations such as t(12;21) indicate a better prognosis, while t(9;22) suggests a worse prognosis.
- Symptoms include sudden onset of fatigue, pallor, weakness, bleeding tendencies (epistaxis, gum bleeding, petechiae), and frequent infections.
- Presence of hepatosplenomegaly due to leukemic infiltration, along with fever, night sweats, and unexplained weight loss.
- Painless lymphadenopathy, bone pain, and potential airway obstruction from mediastinal or thymic involvement.
- Diagnosis requires over 20% lymphoblasts in bone marrow or peripheral blood, along with thrombocytopenia and anaemia observed in CBC.
- Morphology shows small to intermediate-sized lymphoblasts with high nuclear-cytoplasmic ratios and coarse granules, lacking Auer rods.
- Immunological markers include MPO negative, TdT positive, and PAS positive.
- Flow cytometry identifies markers: CD19 and CD20 for B-cell ALL; CD2, CD8, and CD3 for T-cell ALL.
- Cytogenetics detects Philadelphia translocation in 20-30% of adults and 5% of children, t(12;21) via FISH.
- Aggressive chemotherapy yields a 95% remission rate and 75% curative rate; tyrosine kinase inhibitors target the enzyme causing lymphoblast proliferation.
- Bone marrow transplant can be a surgical treatment option.
Acute Myeloid Leukaemia (AML)
- Neoplastic proliferation of myeloblasts in bone marrow primarily affects adults.
- Associated chromosome mutation includes t(15;17), detectable using FISH.
- Chromosomal mutations prevent myeloid blast cells from maturing, increase proliferation, and inhibit apoptosis while disrupting other blood cell lineages.
- Symptoms include leukemic cutis (myeloid sarcoma) where myeloid blasts infiltrate the skin causing purple nodules, alongside common leukaemia symptoms.
Definition
- Leukaemia is a cancer affecting the blood and bone marrow.
Types of Leukaemia
Acute Lymphocytic Leukaemia (ALL)
- Primarily impacts children, with B-ALL (80%) being more prevalent than T-ALL (20%).
- Prognosis is better with translocation t(12,21).
- Prognosis worsens with translocation t(9,22) in B-ALL and NOTCH1 mutation in T-ALL.
Acute Myeloid Leukaemia (AML)
- Mainly occurs in adults.
- Associated with chromosome mutation translocation t(15,17).
Chronic Lymphocytic Leukaemia (CLL)
- Most common leukaemia in adults.
- Frequently linked to mutations like 13q deletion, P53, NOTCH1, and TSF3B1.
Chronic Myeloid Leukaemia (CML)
- A myeloproliferative neoplasm affecting myeloblasts.
- Characterized by proliferation of immature granulocytes (neutrophils, eosinophils, basophils).
- Associated with t(9,22) translocation leading to Philadelphia gene formation.
Pathophysiology
- ALL: Chromosomal mutations in lymphocyte progenitors cause excessive lymphoblast production.
- AML: Chromosomal mutations in myeloid progenitors prevent maturation, increase proliferation, and inhibit apoptosis, disrupting other cell lines.
- CLL: Chromosomal mutations disrupt apoptosis in B-lymphocytes, leading to the proliferation of dysfunctional cells and possible Richter transformation to a more aggressive malignancy.
- CML: Philadelphia gene produces BCR-ABL1 mutant protein affecting tyrosine kinase, driving uncontrolled hematopoietic stem cell proliferation and inhibiting apoptosis.
Signs and Symptoms
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ALL: Sudden symptom onset; includes anaemia (fatigue, pallor), thrombocytopenia (bleeding issues), frequent infections, hepatosplenomegaly, fever, night sweats, weight loss, painless lymphadenopathy, bone pain, possible airway obstruction, and features of superior vena cava syndrome.
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AML: Presence of leukaemia cutis, characterized by purple subcutaneous nodes formed by myeloid blasts.
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CLL: Symptoms include weight loss, fever, night sweats, fatigue (B symptoms), painless lymphadenopathy, hepatomegaly/splenomegaly, reduced immunity (frequent infections), leukaemia cutis, chronic pruritus, and chronic urticaria.
Types of Leukaemia
- Leukaemia is categorized into four main types based on the affected blood cells and patient demographics.
- Acute Lymphocytic Leukaemia (ALL) predominantly affects children; B-ALL is more common (80%) than T-ALL (20%). Chromosomal mutations like translocation t(12,21) are linked to better outcomes, while t(9,22) correlates with poorer prognosis.
- Acute Myeloid Leukaemia (AML) typically impacts adults and involves the proliferation of myeloblasts. Key mutation includes translocation t(15,17), identified via FISH testing.
- Chronic Lymphocytic Leukaemia (CLL) is the most common leukaemia in adults, characterized by the proliferation of mature, dysfunctional B lymphocytes. Associated mutations involve deletions on chromosome 13q, as well as changes in P53 and NOTCH1.
- Chronic Myeloid Leukaemia (CML) involves the proliferation of immature granulocytes and is identified by the Philadelphia chromosome resulting from translocation t(9,22).
Pathophysiology
- Leukaemias disrupt normal blood cell production in the bone marrow, leading to an excess of abnormal cells and reduced healthy blood cells.
- ALL Pathophysiology: Mutations in lymphocyte progenitors cause overproduction of lymphoblasts, hindering normal cell maturation.
- AML Pathophysiology: Mutations occur in WBC progenitors, preventing maturation, enhancing proliferation, and evading apoptosis, impacting other blood cell types.
- CLL Pathophysiology: B-lymphocyte mutations cause dysfunctional cellular proliferation and impair the generation of healthy B-cells, affecting overall immunity.
- CML Pathophysiology: The Philadelphia gene produces the BCR-ABL1 protein, leading to uncontrolled growth of hematopoietic stem cells and inhibiting apoptosis.
Signs and Symptoms
- Common indicators of leukaemia include fever, night sweats, and unexplained weight loss.
- Patients may experience pain associated with the disease's effects on the body.
Leukaemia Overview
- Leukaemia involves abnormal proliferation of blood cells originating in the bone marrow, resulting in various types depending on the cell lineage and progression speed.
Types of Leukaemia
-
Acute Lymphocytic Leukaemia (ALL):
- Characterized by t(12,21)/t(9,22) mutations.
- Primarily affects children.
- Proliferation of lymphoblasts leading to disease progression.
-
Acute Myeloid Leukaemia (AML):
- Defined by t(15,17) translocation.
- Mostly occurs in adults.
- Involves myeloblast proliferation in the bone marrow.
-
Chronic Lymphocytic Leukaemia (CLL):
- Linked to NOTCH1 mutations.
- Consists of neoplastic proliferation of mature dysfunctional B lymphocytes in the bone marrow.
-
Chronic Myeloid Leukaemia (CML):
- Associated with the t(9,22) mutation.
- Results in proliferation of immature granulocytes (neutrophils, eosinophils, basophils).
Aetiology
-
ALL:
- Chromosome translocations impact prognosis; t(12,21) indicates better outlook, while t(9,22) indicates worse outcomes alongside NOTCH1 mutations.
-
AML:
- Chromosomal mutations, notably t(15,17), detected using fluorescent in situ hybridization (FISH).
-
CLL:
- Common mutations include 13q deletion, P53, NOTCH1, and TSF3B1, also identified via FISH.
-
CML:
- Philadelphia gene formation from chromosome t(9,22) mutation, key for identifying the disease.
Pathophysiology
-
ALL:
- Lymphocyte progenitors' chromosomal mutations lead to excessive lymphoblast production.
-
AML:
- Chromosomal changes in white blood cell progenitors (myeloid stem cells) hinder maturation, promote proliferation, and prevent apoptosis, affecting all blood cell lines.
-
CLL:
- Mutations in B-lymphocytes disrupt cell death, causing proliferation of dysfunctional cells while suppressing healthy B-cell activity.
- Richter transformation leads to a more aggressive disease variant.
- Symptoms may include weight loss, fever, night sweats, lymphadenopathy, and splenomegaly.
-
CML:
- The BCR-ABL1 protein disrupts tyrosine kinase functions, encouraging uncontrolled stem cell proliferation while inhibiting apoptosis.
Signs and Symptoms
-
ALL:
- Symptoms appear suddenly, with rapid progression over days to weeks.
- Presents with anemia leading to fatigue and pallor, frequent infections, and easy bruising or bleeding.
-
CLL:
- Patients may experience B symptoms (weight loss, fever, night sweats), painless lymphadenopathy, and hepatosplenomegaly.
- Reduced immunity due to low healthy B-cell counts and dermatological manifestations like leukaemia cutis, chronic pruritus, and urticaria.
Acute Lymphocytic Leukaemia (ALL)
- Neoplastic proliferation of lymphoblasts predominantly affects children.
- Two major types: B-ALL (80%) and T-ALL (20%).
Aetiology
- Linked to chromosomal mutations: t(12;21) improves prognosis; t(9;22) signals worse prognosis for B-ALL.
- NOTCH1 mutations are significant in T-ALL.
- Mutations arise in lymphoblast progenitors, leading to unchecked lymphocyte production.
Signs and Symptoms
- Symptoms appear suddenly, with rapid progression (days to weeks).
- Anaemia: Causes fatigue, pallor, and weakness.
- Thrombocytopenia: Results in disseminated intravascular coagulation (DIC), leading to epistaxis, bleeding gums, petechiae, and purpura.
- Presence of immature leukocytes causes frequent infections and fever.
-
Hepatosplenomegaly: Due to leukemic cell infiltration, causing additional symptoms:
- Fever, night sweats, weight loss, painless lymphadenopathy.
- Bone pain from proliferation in the marrow.
- Potential airway obstruction from mediastinal/thymic infiltration.
- Symptoms of superior vena cava syndrome and meningeal leukaemia.
Diagnosis
- Bone marrow or peripheral blood: >20% lymphoblasts.
- Complete Blood Count (CBC): Thrombocytopenia, anaemia, presence of excessive lymphoblasts.
-
Cell Morphology:
- Small/intermediate-sized blasts with large, irregular nuclei.
- High nuclear-cytoplasmic ratio, low-key nucleoli, coarse granules, no Auer rods.
- Leukemic arrest noted by presence of blasts and mature leukocytes without intermediate forms.
-
Immunological Markers:
- Myeloperoxidase (MPO) negative, Terminal deoxynucleotidyl transferase (TdT) positive, Periodic acid-Schiff (PAS) positive.
-
Flow Cytometry: Detection of receptors:
- B-cell ALL: CD19, CD20.
- T-cell ALL: CD2, CD8, CD3.
- Cytogenetics: Identifies gene mutations, including Philadelphia translocation in 20-30% of adults and 5% of children; t(12;21) detectable via FISH.
Treatment
-
Aggressive Chemotherapy:
- Achieves a 95% remission rate; 75% curative rate.
- Tyrosine Kinase Inhibitors: Target overactive enzymes promoting lymphoblast proliferation.
- Surgery: Includes bone marrow transplant.
Acute Myeloid Leukaemia (AML)
- Neoplastic proliferation of myeloblasts, primarily affecting adults.
Aetiology
- Associated with chromosomal mutation: t(15;17), easily identified via FISH.
- Mutations occur in progenitors of white blood cells, mainly impacting myeloid blasts and their stem cells, disrupting maturation and self-apoptosis while allowing excessive proliferation.
Signs and Symptoms
- Leukaemia Cutis: Myeloid sarcoma where myeloid blast cells infiltrate subcutaneously, forming nodes.
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Description
This quiz covers the essential aspects of Acute Lymphocytic Leukaemia (ALL), focusing on its classification, aetiology, and pathophysiology. Participants will also explore the signs and symptoms associated with this condition, particularly in children. Test your knowledge on the key features and prognostic indicators of ALL.
