Y2S2 P1 Haematology Malignancies
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Questions and Answers

Which type of leukaemia is characterized by large, poorly differentiated, non-functional blasts?

  • Acute myeloid leukaemia (AML) (correct)
  • Chronic myeloid leukaemia (CML)
  • Chronic lymphoid leukaemia (CLL)
  • Acute lymphoid leukaemia (ALL)

    • What is the relative prevalence order of leukaemia types from highest to lowest?

  • AML > CML > ALL > CLL
  • CLL > AML > CML > ALL (correct)
  • CML > ALL > AML > CLL
  • CLL > ALL > AML > CML

    • Which of the following is NOT considered a myeloproliferative neoplasm?

  • Essential thrombocythemia
  • Chronic myeloid leukaemia (CML)
  • Polycythaemia rubra vera
  • Acute lymphoid leukaemia (ALL) (correct)

    • What is a common finding in the peripheral blood film of a patient with Acute Myeloid Leukaemia?

    <blockquote> <p>20% blasts and Auer rods</p> </blockquote> Signup and view all the answers

    Which cell types are primarily involved in lymphoid leukaemia?

    <p>B cells, T cells, NK cells</p> Signup and view all the answers

    Which demographic is most likely to be diagnosed with Acute Myeloid Leukaemia?

    <p>Older adults over 65 years</p> Signup and view all the answers

    What is a common feature observed in blood tests for leukaemia diagnosis?

    <p>Anaemia and thrombocytopenia</p> Signup and view all the answers

    What symptom is NOT typically associated with thrombocytopenia in patients?

    <p>Frequent infections</p> Signup and view all the answers

    Which of the following is a key feature of the accelerated phase of Chronic Myeloid Leukaemia?

    <p>Thrombocytopenia</p> Signup and view all the answers

    Which mutation is most often associated with poor prognosis in older adults diagnosed with Acute Myeloid Leukaemia?

    <p>BCR-ABL (Philadelphia chromosome) mutation</p> Signup and view all the answers

    Which statement about Acute Lymphoid Leukaemia (ALL) is true?

    <p>It has a peripheral blood film showing &gt;20% blasts.</p> Signup and view all the answers

    What is the typical prognosis for children with Acute Lymphoid Leukaemia (ALL)?

    <p>Very good, around 90%.</p> Signup and view all the answers

    What characterizes Chronic Lymphoid Leukaemia (CLL) in its early disease stage?

    <p>Painless, rubbery lymphadenopathy.</p> Signup and view all the answers

    The most common type of leukaemia in adults is?

    <p>Chronic Lymphoid Leukaemia (CLL).</p> Signup and view all the answers

    Which of the following is a feature of Essential Thrombocytopenia?

    <p>Overproduction of platelets without a clear reason.</p> Signup and view all the answers

    What is a key feature of Acute Myeloid Leukaemia (AML)?

    <p>It shows signs of hypercellularity in the bone marrow.</p> Signup and view all the answers

    In Chronic Lymphoid Leukaemia (CLL), which condition is least likely to present as a classic symptom?

    <p>Fever, sweats, and weight loss.</p> Signup and view all the answers

    What variant of leukaemia does not primarily arise from lymphoid cells?

    <p>Chronic Myeloid Leukaemia (CML).</p> Signup and view all the answers

    What is a key clinical feature of Polycythaemia Rubra Vera?

    <p>Facial and palmar flushing</p> Signup and view all the answers

    Which condition is associated with JAK2 mutations in about 50% of cases?

    <p>Primary Myelofibrosis</p> Signup and view all the answers

    What is a characteristic feature of Hodgkin’s Lymphoma?

    <p>Presence of Reed Sternberg cells</p> Signup and view all the answers

    Which of the following does NOT indicate a feature of Multiple Myeloma?

    <p>Dry bone marrow aspiration</p> Signup and view all the answers

    What is the typical peripheral blood finding in Primary Myelofibrosis?

    <p>Immature red blood cells and tear drop RBCs</p> Signup and view all the answers

    Which symptom is most commonly associated with Polycythaemia Rubra Vera?

    <p>Fatigue</p> Signup and view all the answers

    Which clinical presentation is NOT commonly associated with Non-Hodgkin’s Lymphoma?

    <p>Presence of Reed Sternberg cells</p> Signup and view all the answers

    What symptom might suggest a TIA in the context of thrombosis associated with Polycythaemia Rubra Vera?

    <p>Visual disturbances</p> Signup and view all the answers

    Which type of lymphoma is characterized by an aggressive nature and is associated with c-myc gene mutations?

    <p>Burkitt's lymphoma</p> Signup and view all the answers

    What distinguishes essential thrombocythemia from other myeloproliferative neoplasms?

    <p>Predominantly increased platelet counts</p> Signup and view all the answers

    What peripheral blood film finding is characteristic of Acute Myeloid Leukaemia?

    <p>More than 20% blasts and Auer rods</p> Signup and view all the answers

    Which of the following is NOT a typical symptom associated with thrombocytopenia in leukaemia patients?

    <p>Frequent infections</p> Signup and view all the answers

    What is a common finding in the prognosis of Acute Myeloid Leukaemia for older adults?

    <p>Philadelphia chromosome mutation</p> Signup and view all the answers

    In the chronic phase of Chronic Myeloid Leukaemia, which symptom might present early?

    <p>Massive splenomegaly</p> Signup and view all the answers

    Which of the following features is indicative of the accelerated phase in Chronic Myeloid Leukaemia?

    <p>Leukocytosis and increased basophils</p> Signup and view all the answers

    What differentiates acute leukaemia from chronic leukaemia?

    <p>Acute leukaemia has a more aggressive clinical course.</p> Signup and view all the answers

    Which of the following types of malignancies primarily involves myeloid cells?

    <p>Chronic Myeloid Leukaemia (CML)</p> Signup and view all the answers

    What is a common method for diagnosing leukaemia?

    <p>Bone marrow biopsy and trephine</p> Signup and view all the answers

    Which type of leukaemia is recognized for having the highest relative mortality rate?

    <p>Acute Myeloid Leukaemia (AML)</p> Signup and view all the answers

    What cellular types are primarily involved in lymphoid leukaemia?

    <p>B cells, T cells, and NK cells</p> Signup and view all the answers

    What is the most common demographic affected by Chronic Lymphoid Leukaemia (CLL)?

    <p>Elderly individuals over 80 years</p> Signup and view all the answers

    What key feature is observed in the peripheral blood film of a patient with Acute Lymphoid Leukaemia (ALL)?

    <blockquote> <p>20% blasts with very immature lymphocytes</p> </blockquote> Signup and view all the answers

    Which symptom is least likely to be associated with Chronic Lymphoid Leukaemia (CLL)?

    <p>Classic fever and weight loss</p> Signup and view all the answers

    What prognosis is associated with Acute Lymphoid Leukaemia (ALL) in children?

    <p>Very good, around 90%</p> Signup and view all the answers

    What differentiates Essential Thrombocytopenia from other myeloproliferative neoplasms?

    <p>Overproduction of platelets without an apparent cause</p> Signup and view all the answers

    What is a common clinical feature in the late stages of Chronic Lymphoid Leukaemia (CLL)?

    <p>Frequent nosebleeds and easy bruising</p> Signup and view all the answers

    Which type of leukaemia is primarily characterized by the presence of small, mature lymphocytes in the blood film?

    <p>Chronic Lymphoid Leukaemia (CLL)</p> Signup and view all the answers

    What is a notable complication associated with Essential Thrombocytopenia due to paradoxical poor clotting?

    <p>Increased incidence of strokes</p> Signup and view all the answers

    What is the common consequence of overproduction of red blood cells in Polycythaemia Rubra Vera?

    <p>Increased risk of thrombosis</p> Signup and view all the answers

    Which of the following is NOT a symptom associated with Primary Myelofibrosis?

    <p>Intense pruritus after heat</p> Signup and view all the answers

    What is a distinctive feature seen in the peripheral blood film of patients with Multiple Myeloma?

    <p>Rouleaux bodies</p> Signup and view all the answers

    Which mutation is commonly associated with Burkitt's lymphoma?

    <p>c-myc</p> Signup and view all the answers

    Which symptom is commonly associated with Erythromelalgia?

    <p>Red, painful extremities</p> Signup and view all the answers

    What is a key feature of Hodgkin’s Lymphoma?

    <p>Presence of Reed Sternberg cells</p> Signup and view all the answers

    Which of the following is indicative of Secondary Thrombocytosis?

    <p>Infection or inflammation</p> Signup and view all the answers

    Which type of lymphoma is characterized by indolence and widespread lymphadenopathy?

    <p>Follicular lymphoma</p> Signup and view all the answers

    What finding is typically seen in the bone marrow biopsy of a patient with Polycythaemia Rubra Vera?

    <p>Hypercellularity and panmyelosis</p> Signup and view all the answers

    What is the most common presenting complaint in Primary Myelofibrosis?

    <p>Fatigue</p> Signup and view all the answers

    What characterizes Chronic Myeloid Leukaemia (CML) in terms of cell characteristics?

    <p>Presence of small, well-differentiated cells that are poorly functional</p> Signup and view all the answers

    Which of the following malignancies is primarily associated with plasma cell abnormalities?

    <p>Multiple Myeloma</p> Signup and view all the answers

    In terms of relative mortality rates, which condition demonstrates the highest risk as indicated?

    <p>Acute Myeloid Leukaemia (AML)</p> Signup and view all the answers

    What is a significant clinical finding associated with the diagnosis of leukaemia from a blood smear?

    <p>Presence of leukemic cells and abnormalities in blood counts</p> Signup and view all the answers

    Which symptom is least likely to be considered directly related to the myeloproliferative neoplasms?

    <p>Excessive bleeding due to thrombocytopenia</p> Signup and view all the answers

    Which feature suggests the accelerated phase of Chronic Myeloid Leukaemia?

    <p>Basophilia with pruritus</p> Signup and view all the answers

    What symptom in older adults with Acute Myeloid Leukaemia is likely associated with anaemia?

    <p>Dizziness and palpitations</p> Signup and view all the answers

    Which statement regarding the prognosis of Acute Myeloid Leukaemia is accurate?

    <p>The presence of Philadelphia chromosome mutations indicates a poor prognosis</p> Signup and view all the answers

    Which characteristic is commonly observed in the peripheral blood film of a patient with Acute Myeloid Leukaemia?

    <blockquote> <p>20% blasts and Auer rods</p> </blockquote> Signup and view all the answers

    What is a common physical finding associated with the blasts in Acute Myeloid Leukaemia?

    <p>Gum hypertrophy</p> Signup and view all the answers

    What percentage of patients with Chronic Lymphoid Leukaemia typically survive more than 25 years?

    <p>Very good (&gt;25 years)</p> Signup and view all the answers

    What is the typical principal finding in the peripheral blood film of a patient with Chronic Lymphoid Leukaemia?

    <p>Presence of smear cells</p> Signup and view all the answers

    Which of the following symptoms is associated with thrombocytopenia in leukaemia patients?

    <p>Bleeding gums</p> Signup and view all the answers

    What is a common feature distinguishing Acute Lymphoid Leukaemia from Chronic Lymphoid Leukaemia?

    <p>Aggressive nature with early symptoms</p> Signup and view all the answers

    What common complication arises from essential thrombocythemia despite high platelet counts?

    <p>Thrombosis</p> Signup and view all the answers

    What common diagnostic method reveals hypercellularity in patients with leukaemia?

    <p>Bone marrow biopsy</p> Signup and view all the answers

    Which of the following features is characteristic of the blastic phase of leukaemia?

    <p>Presence of very immature lymphocytes</p> Signup and view all the answers

    Which type of leukaemia does not typically display leukemic infiltrates in the early stages?

    <p>Chronic Lymphoid Leukaemia</p> Signup and view all the answers

    Which symptom is most closely associated with erythromelalgia?

    <p>Red painful extremities</p> Signup and view all the answers

    What key feature differentiates Non-Hodgkin’s Lymphoma from Hodgkin’s Lymphoma?

    <p>Absence of Reed Sternberg cells</p> Signup and view all the answers

    Which laboratory finding can indicate Primary Myelofibrosis?

    <p>Dry tap on bone marrow aspirate</p> Signup and view all the answers

    Which condition is characterized by hypercellularity in the bone marrow with elevated levels of all blood cell types?

    <p>Polycythaemia Rubra Vera</p> Signup and view all the answers

    What is a common clinical feature associated with Multiple Myeloma?

    <p>Hypercalcemia</p> Signup and view all the answers

    Which mutation is primarily associated with Burkitt's lymphoma?

    <p>c-myc gene mutation</p> Signup and view all the answers

    What is a potential complication of Polycythaemia Rubra Vera related to its thrombotic features?

    <p>Thrombosis leading to TIAs</p> Signup and view all the answers

    Which of the following describes a typical presentation of Hodgkin’s Lymphoma?

    <p>Painless cervical lymphadenopathy</p> Signup and view all the answers

    In regards to primary myelofibrosis, what is a characteristic peripheral blood finding?

    <p>Tear drop RBCs</p> Signup and view all the answers

    Which clinical feature is associated with a paradoxical risk in Polycythaemia Rubra Vera?

    <p>Risk of thrombosis despite elevated platelets</p> Signup and view all the answers

    Study Notes

    Leukaemia

    • Malignancy of the progenitor cells in the bone marrow
    • Acute leukaemia is more aggressive with large, poorly differentiated cells
    • Chronic leukaemia is less aggressive with smaller, well differentiated cells
    • Lymphoid leukaemia affects B cells, T cells, and NK cells
    • Myeloid leukaemia affects all myeloid lineages, primarily neutrophils
    • Prevalence: CLL > AML > CML > ALL
    • Mortality: AML > ALL > CML > CLL

    Diagnosis

    • Bone marrow biopsy and trephine: This reveals leukemic cells replacing normal marrow.
    • Blood smear: Reveals anaemia, thrombocytopenia, neutropenia, and abnormal cells.
    • Immunophenotyping: Used to identify specific mutations.

    Acute Myeloid Leukaemia (AML)

    • More common in adults over 65 years old
    • Often seen in patients with a history of myelodysplastic syndromes
    • Peripheral blood film: Shows >20% blasts and Auer rods.
    • Bone marrow biopsy: Shows hypercellularity of myeloid lineages and blasts.

    Key Features

    • Anaemia: Pallor, fatigue, dyspnoea, palpitations, dizziness
    • Thrombocytopenia: Petechiae, epistaxis, bleeding gums
    • Neutropenia: Frequent, severe infections
    • B symptoms (fever, fatigue, weight loss, night sweats)

    Other Features

    • Gum hypertrophy
    • Skin deposition
    • Large hepatosplenomegaly
    • Bony tenderness
    • Lymphadenopathy

    Chronic Myeloid Leukaemia (CML)

    • Occurs in adults, often asymptomatic
    • Philadelphia chromosome (9:22 BCR-ABL) mutation is a significant factor in disease progression

    Peripheral blood film

    • Shows a left shift with normal lymphocytes.

    Bone marrow biopsy

    • Shows moderate hypercellularity with a left shift and increased granulocytes.

    Key Features

    • Chronic phase: Asymptomatic or with vague fever, fatigue, weight loss, and massive splenomegaly.
    • Accelerated phase: Anaemia, thrombocytopenia, basophilia, pruritus, and leukocytosis.
    • Blastic phase: Essentially AML.

    Prognosis

    • Variable (5-50 years), now treatable with Imatinib (tyrosine kinase inhibitor).

    Acute Lymphoid Leukaemia (ALL)

    • More common in children, but also occurs in adults
    • Peripheral blood film: >20% blasts with minimal cytoplasm.
    • Bone marrow biopsy: Hypercellularity with invasion by blastic lymphoid cells.

    Key Features

    • Anaemia: Pallor, fatigue, dyspnoea, palpitations, dizziness
    • Thrombocytopenia: Petechiae, epistaxis, bleeding gums
    • Neutropenia: Frequent, severe infections
    • Hepatosplenomegaly

    Sites of Spread

    • Brain
    • Bones: Marrow failure and compression fractures
    • Testes

    Prognosis

    • Very good in children (90%), not bad in adults (60%)
    • Children tolerate chemotherapy better than elderly adults.

    Chronic Lymphoid Leukaemia (CLL)

    • Most common leukaemia in adults and elderly
    • Peripheral blood film: Small, mature lymphocytosis (95% from B cell lineages), smear cells.
    • Bone marrow biopsy: Hypercellular, but not problematic until late stages.

    Key Features

    • Early disease: Painless, rubbery lymphadenopathy with atypical lymphocytes.
    • Late or aggressive disease: Hepatosplenomegaly, anaemia, thrombocytopenia.

    Prognosis

    • Very good (>25 years), patients often die with the condition.

    Essential Thrombocythemia

    • Overproduction of platelets for no good reason (>450 x 10⁹/L)
    • Associated with JAK2 or calreticulin mutations.
    • Peripheral blood film: Large clusters of irregular platelets, giant platelets.
    • Bone marrow biopsy: Hypercellular with large immature megakaryocytes.

    Key Features

    • Paradoxical poor clotting: Haemorrhage, often GIT origin.
    • Thrombosis: TIAs, strokes, MIs, PVD, DVT, etc.
    • Erythromelalgia: Small, episodic microvascular thrombosis leading to red, painful extremities.

    Polycythaemia Rubra Vera

    • Overproduction of RBC, 97% heterozygous for the JAK2 mutation
    • Peripheral blood film: Lots of microcytic hypochromic RBC +/- elevated platelets.
    • Bone marrow biopsy: Hypercellular with elevated everything (panmyelosis).

    Key Features

    • Erythrocytosis: Facial, conjunctival, palmar flushing, pruritus after heat, gout.
    • Thrombotic: Paradoxical poor clotting, haemorrhage, GIT origin, peptic ulcer disease, TIAs, strokes, MIs, PVD, DVT, etc.
    • Erythromelalgia: Small, episodic microvascular thrombosis leading to red, painful extremities.
    • Patients have decreased serum EPO (negative feedback).

    Primary Myelofibrosis

    • Rare global bone marrow fibrosis leading to failure.
    • Associated with JAK2 mutation in 50%.
    • Leucoerythroblastic peripheral blood film: Shows immature RBC (anisocytosis, poikilocytosis, nucleated) and WBC, tear drop RBCs.
    • Bone marrow biopsy: “Dry tap” - nothing comes out.

    Key Features

    • Anaemia
    • Bone and joint pain (loss of marrow)
    • Constitutional symptoms
    • Dry BM aspirate
    • Extramedullary haematopoiesis (hepatosplenomegaly)
    • Fatigue
    • Gout

    Hodgkin’s Lymphoma

    • Malignant proliferation of lymphoid cells with Reed Sternberg cells.
    • Painless lymphadenopathy: Rubbery, mobile, enlarged lymph nodes, most commonly cervical/supraclavicular.

    Key Features

    • Painless lymphadenopathy: Rubbery, mobile, enlarged lymph nodes, most commonly cervical/supraclavicular.
    • B symptoms: Fever, fatigue, night sweats, weight loss.
    • Hepatosplenomegaly
    • Tender LN with EtOH consumption.

    Non-Hodgkin’s Lymphoma

    • Malignant proliferation of lymphoid cells with no Reed Sternberg cells.
    • The vast majority arise from B cells and there are multiple types.

    Burkitt’s Lymphoma

    • Very aggressive
    • Caused by mutation of the c-myc gene, most commonly t(8;14)
    • Associated with EBV (endemic variant, also associated with chronic malaria) and HIV (immunodeficient variant)
    • Submental and submandibular lymphadenopathy.

    Follicular Lymphoma

    • Indolent
    • Caused by mutation of the bcl-2 gene, t(14;18)
    • Often presents with widespread lymphadenopathy.

    Diffuse large B cell lymphoma

    • Aggressive, can be a progression of follicular lymphoma.
    • More rapid lymphadenopathy.

    Mantle cell lymphoma

    • Indolent
    • Caused by overexpression of cyclin D1
    • Causes mucosal polyps in the GIT, mainly around the ileocaecal valve.

    Multiple Myeloma

    • Monoclonal expansion of plasma cells.
    • Peripheral blood film: Rouleaux bodies.

    Key Features (CRAB)

    • Hypercalcemia
    • Renal failure
    • Anaemia
    • Bony lesions (lower back pain)

    Urinalysis findings

    • Bence Jones protein is present.

    Leukaemia

    • Malignancy of the progenitor cells in the bone marrow
    • Acute: Large, poorly differentiated, non-functional cells. More aggressive
    • Chronic: Smaller, well differentiated, poorly functional cells
    • Lymphoid: B cells, T cells, NK cells
    • Myeloid: All blood cells, mainly neutrophils
    • Prevalence: CLL > AML > CML > ALL
    • Mortality: AML > ALL > CML > CLL

    Acute Myeloid Leukaemia (AML)

    • Older adults >65 years, often with history of Myelodysplastic Syndrome
    • Peripheral blood film: >20% blasts, Auer rods
    • Bone marrow biopsy: Hypercellularity of myeloid lineages, blasts
    • Key Features:
      • Anaemia: Pallor, fatigue, dyspnoea, palpitations, dizziness
      • Thrombocytopenia: Petechiae, epistaxis, bleeding gums
      • Neutropenia: Frequent, severe infections
      • B symptoms (fever, fatigue, weight loss, night sweats)
    • Other Features: (due to blast deposition)
      • Gum hypertrophy
      • Skin deposition
      • Large hepatosplenomegaly
      • Bony tenderness
      • Lymphadenopathy

    Chronic Myeloid Leukaemia (CML)

    • Older adults, Philadelphia chromosome (9:22 BCR-ABL) mutation
    • Peripheral blood film: Left shift with normal lymphocytes
    • Bone marrow biopsy: Moderate hypercellularity with left shift, increased granulocytes
    • Key Features:
      • Chronic Phase:
        • Often an incidental finding
        • Vague fever, fatigue, weight loss
        • Massive splenomegaly
      • Accelerated Phase:
        • Anaemia
        • Thrombocytopenia
        • Basophilia → Pruritus
        • Leukocytosis
      • Blastic Phase: (Basically AML)
    • Prognosis: Variable (5-50 years), now treatable with Imatinib (tyrosine kinase inhibitor)

    Acute Lymphoid Leukaemia (ALL)

    • Children <80 years
    • Peripheral blood film: >20% blasts, very immature lymphocytes, minimal cytoplasm
    • Bone marrow biopsy: Hypercellularity with invasion by blastic lymphoid cells
    • Key Features:
      • Anaemia: Pallor, fatigue, dyspnoea, palpitations, dizziness
      • Thrombocytopenia: Petechiae, epistaxis, bleeding gums
      • Neutropenia: Frequent, severe infections
      • Hepatosplenomegaly
    • Sites of Spread: (High vascularity)
      • Brain
      • Bones
      • Testes
    • Prognosis: Very good in children (90%), good in adults (60%)

    Chronic Lymphoid Leukaemia (CLL)

    • Elderly >80 years
    • Peripheral blood film: Small, mostly mature, lymphocytosis (95% B cells), smear cells
    • Bone marrow biopsy: Hypercellularity
    • Key Features:
      • Early Disease: Lymphadenopathy
        • Painless rubbery lymphadenopathy
        • Resembles Lymphoma, but originates in bone marrow
      • Late Disease:
        • Hepatosplenomegaly
        • Anaemia
        • Thrombocytopenia
      • 5-10% present with classical B symptoms
    • Prognosis: Very good (>25 years), often die with the condition, Most common leukaemia in adults and elderly.

    Myeloproliferative Neoplasms

    • Malignancy of myeloid cells
    • Essential Thrombocythemia: Overproduction of platelets
    • Polycythemia Rubra Vera: Overproduction of RBC
    • Chronic Myeloid Leukaemia (CML): Overproduction of white blood cells
    • Primary Myelofibrosis: Overproduction of all blood cell types (myeloid)

    Essential Thrombocythemia

    • Overproduction of platelets (>450 x 10⁹/L)
    • Associated with JAK2 or Calreticulin mutations
    • Peripheral blood film: Large clusters of irregular platelets, giant platelets
    • Bone marrow biopsy: Hyper cellular with large immature megakaryocytes
    • Key Features: Paradoxical poor clotting
      • Haemorrhage (often GIT origin)
      • Thrombosis: TIAs, strokes, MIs, PVD, DVT, Erythromelalgia
    • Secondary Thrombocytosis: Overproduction of platelets due to an underlying illness (e.g. infection, inflammation, bleeding)

    Polycythemia Rubra Vera

    • Overproduction of RBC, 97% are heterozygous for JAK2 mutation
    • Peripheral blood film: Lots of microcytic hypochromic RBC, +/- elevated platelets
    • Bone marrow biopsy: Hypercellular with elevated everything (panmyelosis)
    • Key Features:
      • Erythrocytosis:
        • Facial, conjunctival, palmar flushing
        • Pruritus after heat
        • Gout
      • Thrombotic:
        • Haemorrhage
        • Thrombosis: TIAs, strokes, MIs, PVD, DVT, Erythromelalgia
    • Patients will have decreased serum EPO (negative feedback)

    Primary Myelofibrosis

    • Rare global bone marrow fibrosis leading to failure
    • Associated with JAK2 mutation in 50%
    • Peripheral blood film: Immature RBC (anisocytosis, poikilocytosis, nucleated), WBC, tear drop RBCs
    • Bone marrow biopsy: “Dry tap” - nothing comes out
    • Key Features: "A to G"
      • Anaemia
      • Bone and joint pain
      • Constitutional symptoms
      • Dry BM aspirate
      • Extramedullary haematopoiesis (hepatosplenomegaly)
      • Fatigue
      • Gout

    Lymphoma

    • Malignancy of lymphoid cells
    • Hodgkin's Lymphoma: Malignant proliferation of lymphoid cells with Reed-Sternberg cells
    • Non-Hodgkin's Lymphoma: Malignant proliferation of lymphoid cells without Reed-Sternberg cells

    Hodgkin's Lymphoma

    • Proliferation of lymphoid cells with Reed Sternberg cells
    • Key Features:
      • Painless lymphadenopathy: Rubbery, mobile, enlarged lymph nodes
        • Cervical/supraclavicular most common
        • Can present with SVC syndrome or pleural effusion
      • B symptoms (fever, fatigue, night sweats, weight loss)
      • Hepatosplenomegaly
      • Tender LN with EtOH consumption
    • Associated with a past history of EBV infection

    Non-Hodgkin's Lymphoma

    • Malignant proliferation of lymphoid cells (no Reed Sternberg cells)
    • Vast majority from B cells:
      • Burkitt's lymphoma:
        • Very aggressive
        • Caused by mutation of the c-myc gene, t(8;14)
        • Associated with EBV and HIV
        • Submental and submandibular lymphadenopathy
      • Follicular Lymphoma:
        • Indolent
        • Caused by mutation of the bcl-2 gene, t(14;18)
        • Often presents with widespread lymphadenopathy
      • Diffuse large B cell lymphoma:
        • Aggressive, can progress from follicular lymphoma
        • More rapid lymphadenopathy
      • Mantle cell lymphoma:
        • Indolent
        • Caused by overexpression of cyclin D1
        • Causes mucosal polyps in the GIT

    Multiple Myeloma

    • Monoclonal expansion of plasma cells (secreting antibodies)
    • Peripheral blood film: Rouleaux bodies
    • Key Features: CRAB
      • Hypercalcemia
      • Renal failure
      • Anaemia
      • Bony lesions
    • Urinalysis will show Bence Jones protein

    Leukaemia

    • Malignancy of the progenitor cells in the bone marrow
    • Acute leukaemia is characterized by large, undifferentiated, and non-functional blasts.
    • Chronic leukaemia is characterized by smaller, well-differentiated, poorly functional cells.
    • Lymphoid leukaemia affects B cells, T cells, and NK cells.
    • Myeloid leukaemia affects all myeloid lineages, primarily neutrophils
    • Relative prevalence of leukaemias among adults: CLL (very indolent) > AML > CML > ALL
    • Relative mortality of leukaemias among adults: AML (very aggressive) > ALL > CML > CLL

    Diagnosis of Leukaemia:

    • Bone marrow biopsy and trephine: Normal marrow is replaced by leukemic cells
    • Blood smear and FBE: Reveals anaemia, thrombocytopenia, neutropenia, and abnormal cells
    • Immunophenotyping: Identifies specific mutations

    Acute Myeloid Leukaemia (AML)

    • More common in adults over 65 years old
    • Often associated with myelodysplastic syndromes
    • Peripheral blood film: Greater than 20% blasts and Auer rods
    • Bone marrow biopsy: Significant hypercellularity of myeloid lineages and blasts

    Key Features of AML:

    • Anaemia: Results in pallor, fatigue, dyspnoea, palpitations, dizziness.
    • Thrombocytopenia: Causes petechiae, epistaxis, bleeding gums.
    • Neutropenia: Increases susceptibility to frequent and severe infections.
    • B symptoms: Fever, fatigue, weight loss, night sweats.

    Other features of AML:

    • Gum hypertrophy
    • Skin deposition
    • Large hepatosplenomegaly
    • Bony tenderness
    • Lymphadenopathy

    Chronic Myeloid Leukaemia (CML)

    • Common in adults over 65 years old
    • Associated with the Philadelphia chromosome (9:22 BCR-ABL) mutation
    • Peripheral blood film: Demonstrates a left shift with normal lymphocytes.
    • Bone marrow biopsy: Moderate hypercellularity with a left shift and increased granulocytes.

    Key Features of CML:

    • Chronic phase: Often asymptomatic or presents with vague fever, fatigue, weight loss, and massive splenomegaly (early satiety, LUQ pain, shoulder tip pain).
    • Accelerated phase: Characterized a decline in blood count with anaemia, thrombocytopenia, basophilia, and leukocytosis.
    • Blastic phase: Essentially AML with high blast counts.

    Acute Lymphoid Leukaemia (ALL)

    • More common in children, but can occur in adults
    • Peripheral blood film: Greater than 20% blasts with very immature lymphocytes and minimal cytoplasm.
    • Bone marrow biopsy: Significant hypercellularity with invasion by blastic lymphoid cells.

    Key features of ALL:

    • Anaemia: Pallor, fatigue, dyspnoea, palpitations, dizziness.
    • Thrombocytopenia: Petechiae, epistaxis, bleeding gums.
    • Neutropenia: Frequent, severe infections.
    • Hepatosplenomegaly

    Sites of Spread for ALL:

    • Brain
    • Bones (causing marrow failure and compression fractures)
    • Testes (Balls)

    Chronic Lymphoid Leukaemia (CLL)

    • Common in older adults, particularly those over 80 years old.
    • Peripheral blood film: Shows small, mostly mature lymphocytosis (95% from B cell lineages) and smear cells.
    • Bone marrow biopsy: Hypercellular, but not problematic until late stages.

    Key Features of CLL:

    • Early disease: Painless, rubbery lymphadenopathy with atypical lymphocytes, often resembling lymphoma
    • Late or aggressive disease: Hepatosplenomegaly, anaemia, thrombocytopenia, B symptoms (fever, sweats, weight loss).
    • Most common leukaemia in adults and the elderly.

    Essential Thrombocytopenia

    • Excessive platelet production without an apparent cause, exceeding 450 x 10⁹/L.
    • Associated with JAK2 or calreticulin mutations.
    • Peripheral blood film: Large clusters of irregular platelets and giant platelets.
    • Bone marrow biopsy: Hypercellular with large, immature megakaryocytes.

    Key Features of Essential Thrombocytopenia:

    • Paradoxical poor clotting leading to haemorrhage, often originating from the gastrointestinal tract.
    • Thrombosis: TIAs (visual disturbances), strokes, MIs, PVD, DVTs, Erythromelalgia (small, episodic microvascular thrombosis causing red, painful extremities).

    Polycythaemia Rubra Vera

    • Excess red blood cell production, with 97% of patients heterozygous for the JAK2 mutation.
    • Peripheral blood film: Increased microcytic hypochromic RBCs, potentially with elevated platelets.
    • Bone marrow biopsy: Hypercellular with elevated counts of all cell types (panmyelosis).

    Key Features of Polycythaemia Rubra Vera:

    • Erythrocytosis: Facial, conjunctival, and palmar flushing, pruritus after heat (itchy after a hot shower), gout (increased RBC turnover).
    • Thrombosis: Paradoxical poor clotting leading to haemorrhage, often from GI tract, peptic ulcer disease. Thrombosis includes TIAs, strokes, MIs, PVD, DVTs, and Erythromelalgia.
    • Decreased serum EPO levels due to negative feedback.

    Primary Myelofibrosis

    • Rare condition characterized by widespread bone marrow fibrosis leading to failure.
    • Associated with the JAK2 mutation in 50% of cases.
    • Peripheral blood film: Leucoerythroblastic, demonstrating immature RBCs (anisocytosis, poikilocytosis, nucleated) WBCs, and tear-drop RBCs.
    • Bone marrow biopsy: “Dry tap”, where no material can be aspirated.

    Key Features of Primary Myelofibrosis:

    • Anaemia
    • Bone and joint pain (loss of marrow)
    • Constitutional symptoms
    • Dry bone marrow aspirate
    • Extramedullary hematopoiesis (hepatosplenomegaly)
    • Fatigue ( most common presenting complaint)
    • Gout

    Hodgkin's Lymphoma

    • Malignant proliferation of lymphoid cells with Reed-Sternberg cells.
    • Characterized by painless lymphadenopathy (rubbery, mobile, enlarged lymph nodes)
    • Cervical/supraclavicular nodes most commonly affected
    • Rarely presents with SVC syndrome or pleural effusion.
    • B symptoms (fever, fatigue, night sweats, weight loss)
    • Hepatosplenomegaly
    • Tender lymph nodes with alcohol consumption
    • Associated with a past history of EBV infection.

    Non-Hodgkin's Lymphoma

    • Malignant proliferation of lymphoid cells without Reed-Sternberg cells.
    • Vast majority arise from B cells with multiple types:

    Types of Non-Hodgkin's Lymphoma:

    • Burkitt's lymphoma: Very aggressive, caused by mutation of the c-myc gene (mostly t(8;14)), associated with EBV (endemic variant and associated with chronic malaria) and HIV (immunodeficiency variant), presenting with submental and submandibular lymphadenopathy.
    • Follicular lymphoma: Indolent, caused by mutation of the bcl-2 gene (t(14;18)), often with widespread lymphadenopathy.
    • Diffuse large B cell lymphoma: Aggressive, potentially a progression of follicular lymphoma, more rapid lymphadenopathy.
    • Mantle cell lymphoma: Indolent, caused by overexpression of cyclin D1, presents with mucosal polyps in the GI tract, mainly around the ileocaecal valve.
    • Waldenstrom's macroglobulinemia: A type of non-Hodgkin lymphoma that involves the B cells and primarily affects the lymphatic system.

    Multiple Myeloma

    • Monoclonal expansion of plasma cells, secreting antibodies.
    • Peripheral blood film: Rouleaux bodies.

    Key features of Multiple Myeloma: CRAB

    • Hypercalcemia
    • Renal failure
    • Anaemia
    • Bony lesions (lower back pain)
    • Urinalysis reveals Bence Jones protein.

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