Hematology Quiz: Cytopenias & Myelofibrosis

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Questions and Answers

Which cytogenetic abnormality is most associated with Myelodysplastic Syndromes (MDS)?

Trisomy 8

t(9:22)

Del 5q (correct)

Del 7q

What is a key feature in the diagnosis of Chronic Myelomonocytic Leukemia (CMML)?

Increased Blasts (correct)

Presence of schistocytes

Tear drop cells

Increased reticulin fibers

Which test is essential in confirming a diagnosis of Polycythemia Vera (PCV)?

Increased platelet count

Low EPO levels (correct)

Presence of tear drop cells

Increased ferritin

Which condition is most likely to present with a 'crap ton of platelets' as a defining characteristic?

Essential Thrombocythemia (ET) Signup and view all the answers

In the context of acute conditions, which laboratory study would be performed to rule out sepsis?

Blood Culture Signup and view all the answers

Which myeloid marker is positive in both Acute Promyelocytic Leukemia (APML) and Chronic Myelomonocytic Leukemia (CMML)?

13 Signup and view all the answers

What cytogenetic abnormality is associated with Acute Promyelocytic Leukemia (APML)?

T(15:17) PML-RARA Signup and view all the answers

What is a common feature of Myelodysplastic Syndromes (MDS)?

Dysplastic cells across one or all cell lines Signup and view all the answers

Which of the following markers is negative in Chronic Myelomonocytic Leukemia (CMML) but positive in Acute Myeloid Leukemia (AML)?

MPO Signup and view all the answers

In multiple myeloma, which of the following markers increases due to the presence of abnormal plasma cells?

Bence Jones protein Signup and view all the answers

Which of the following conditions can exhibit an increased level of LDH?

All of the above Signup and view all the answers

Which of the following is a key distinguishing feature of Non-Hodgkins Lymphoma as opposed to other lymphoid neoplasms?

Identifiable lymphoma cells Signup and view all the answers

What findings in cytochemistry would rule out Chronic Myelomonocytic Leukemia (CMML)?

Positive a-naphthylacetate esterase Signup and view all the answers

Which genetic marker is associated with Chronic Myeloid Leukemia (CML)?

T(9:22) - BCR-ABL Signup and view all the answers

In the context of Acute Myeloid Leukemia (AML), which of the following cytogenetic abnormalities is specifically linked to acute promyelocytic leukemia (APML)?

T(15:17) - PML-RARA Signup and view all the answers

What is a common immunophenotypic marker for diagnosis in Chronic Lymphocytic Leukemia (CLL)?

CD23 Signup and view all the answers

Which cytochemistry test is expected to be positive in Acute Myeloid Leukemia (AML)?

MPO Signup and view all the answers

Which condition is NOT on the differential for Chronic Lymphocytic Leukemia (CLL)?

Acute Promyelocytic Leukemia Signup and view all the answers

What cytogenetic abnormality is characterized by chromosome del(13q.14.3)?

Chronic Lymphocytic Leukemia Signup and view all the answers

In the context of Myelodysplastic Syndromes (MDS), which of the following would typically be ruled out by the presence of a JAK mutation?

Polycythemia Vera Signup and view all the answers

Which marker is typically negative in the immunophenotyping of Acute Myeloid Leukemia (AML)?

B-Cell Markers - 20 Signup and view all the answers

Study Notes

Cytopenias

Differentials: AML, AMML, CML, CMML, VB12 Def, infections, toxins, drugs, congenital, PNH, aplastic, mf, ida
Tests and expectations:
- Cytogenetics: Del 5q, Del 7q, Trisomy 8
- BM: Dysplasia, Increased Blasts, Increased cellularity

Myelofibrosis

My identification technique: Tear drop cells, nRBCs
Differentials: AML, CML, ALL, CLL, MDS, TB, SLE, Lymphoma, ET, PCV, CMML
Tests and expectations:
- Antinuclear Antibodies to exclude SLE
- BM to exclude acute leukemia and identify significant reticulin and collagen - fibrosis
- Molecular Studies + Cytogenetics to exclude CML + MDS. Should have JAK2 Mutation
- Microbiology to exclude TB
- DAT to exclude acute hemolysis

Essential Thrombocytosis (ET)

My identification technique: Crap ton of platelets
Differentials: PCV, Reactive Thrombocytosis, CML, MF, MDS, IDA
Tests and expectations:
- BM - Normocellular or slightly hypocellular, increased megakaryocytes, no collagen fibrosis
- Molecular Tests -- Mutation of JAK2 (V617F)
- Cytogenetics negative for t(9:22)
- ESR + CRP rule out reactive thrombocytosis
- Iron Studies Normal

Polycythemia Vera (PCV)

My identification technique: Crap ton of RBCs
Differentials: Methemoglobinemia, ET, hypoxia, Renal Disease, IDA
Tests and expectations:
- Molecular Studies: JAK2 Mutation (V617F)
- EPO Levels Low
- Iron Studies -- Increased Ferritin rules out IDA
- BM: Hypercellularity, Megakaryocytic proliferation and clustering
- Oxygen Saturation -- Differentiates hypoxia association

Thrombotic Thrombocytopenic Purpura (TTP)

My identification technique: Thrombocytopenia and schistocytes
Differentials: ITP, HUS, DIC, HELLP, malignancy, autoimmune disorders, sepsis/bacterial infection
Tests and expectations:
- RFT -- Rule out HUS
- LFT -- Rule out HELLP
- Coagulation Profile -- Rule out DIC
- DAT - Rule out Autoimmune
- Blood Culture -- Rule out Sepsis
- ADAMTS13 Decreased
- Congenital -- ADAMTS13 Mutation
- Acquired -- ADAMTS13 Antibodies

Acute Promyelocytic Leukemia (APML)

My identification technique: Crap ton of promyelocytes and blasts
Differentials: AML, ALL, AMML, MDS Transformation, Leukemoid Reaction, Aplastic Anaemia
Tests and expectations:
- Cytogenetics: T(15:17) PML-RARA
- Immunophenotyping:
  - Positive: Myeloid Markers - 13, 33, 117
  - Negative: T-Cell Markers - 2, 3, 5, 7, B-Cell Markers - 10, 19, 22, Monocytic - 14, 64
- Cytochemistry:
  - Positive: MPO, SBB, Chloroacetate esterase
  - Negative: PAS, Acid Phosphatase, a-naphthylacetate esterase

Chronic Myelomonocytic Leukemia (CMML)

My identification technique: Crap ton of dysplastic monocytes and neutrophils
Differentials: CML, PCV, ET, MF, MDS, tuberculosis, bacterial endocarditis
Tests and expectations:
- Cytogenetics:
  - T(9:22) -- BCR-ABL negative -- rules out CML
  - MDS abnormalities negative
- Immunophenotyping:
  - Positive: Myeloid Markers - 13, 33, Monocytic Markers - 14
  - Negative: T-Cell Markers - 2, 3, 5, 7, B-Cell Markers - 10, 19, 22
- Cytochemistry:
  - Positive: Chloroacetate esterase, a-naphthylacetate esterase
  - Negative: PAS, Acid Phosphatase, MPO, SBB
BM
- LOW NAP score for CML
- Microbiology negative for TB or other infection
- Molecular studies JAK2 mutations negative

Multiple Myeloma (Myeloma)

My identification technique: Egg lookin plasma cells
Differentials: Reactive Plasmacytosis, Plasma Cell Leukemia, Waldenstrom's Macroglobulinemia, Monoclonal Gammopathy
Tests and expectations:
- Cytogenetics: Del 13q, T(4:14)
- Immunophenotyping: Positive: 38, 56, 58 ,138
- Chemistries:
  - Increased: Igs, TP, urea nitrogen, creatinine, calcium
  - Decreased: albumin
- Bence Jones protein in urine
- BM: Marrow plasmacytosis
- Xray, CT, MRI

Non-Hodgkins Lymphoma

My identification technique: Lymphoma Cells
Differentials: Burkitt's Lymphoma, Mantle Cell Lymphoma, Prolymphocytic Leukemia, CLL, Hairy Cell Leukemia, Diffuse Large B cell Lymphoma, Follicular Lymphoma
Tests and expectations:

Myelodysplastic Syndromes (MDS)

My identification technique: Dysplastic cells in either one or all cell lines - pelger huet, hypogranulation, ovalocytes, nRBCs

Acute Lymphoblastic Leukemia (ALL)

My identification technique: Crap ton of blasts don't stress about type, just write acute leukemia
Differentials: AML, Non-Hodgkins Lymphoma, Burkitt's Lymphoma, Aplastic Anaemia, IM, Viral
Tests and expectations:
- Cytogenetics:
  - T(9:22) -- Philadelphia chromosome (BCR-ABL)
  - T(1:19) -- PBX-E2A
  - T(12:21) -- TEL-AML1
  - T(v:11) -- v:MLL
  - Hyperdiploid
  - Hypodiploid
- Immunophenotyping:
  - Positive: Blast Markers - 34, TdT, T-Cell Markers - 2, 3, 5, 7, B-Cell Markers - 10, 19, 20
- Cytochemistry:
  - Positive: PAS, TdT, HLA-DR, Acid Phosphate
  - Negative: MPO, SBB

Chronic Lymphocytic Leukemia (CLL)

My identification technique: Crap ton of lymphocytes and smear cells
Differentials: AML, ALL, CML, HCL, Lymphomas, Bacterial Infection, AIHA, post splenectomy lymphocytosis, stress induced lymphocytosis, MDS, MF, Prolymphocytic Leukemia, IM, Viral
Tests and expectations:
- Cytogenetics:
  - Del(13q.14.3)
  - Trisomy 12
  - Del(11q)
- Immunophenotyping:
  - Positive: T-Cell Markers - 2, 3, 5, 7 (rare), B-Cell Markers - 19, 20, 23, 79
  - Negative: FMC7, 10, 38
- Microbiology - Bacterial infection
- DAT - AIHA
- BM

Acute Myeloid Leukemia (AML)

My identification technique: Crap ton of blasts don't stress about type, just write acute leukemia. Should see left shift though
Differentials: ALL, APML, AMML, MDS Transformation, Leukemoid Reaction, Aplastic Anaemia
Tests and expectations:
- Cytogenetics:
  - T(16:16) -- CBFB-MYH11
  - T(9:11) -- MLLT3-MLL
  - T(6:9) -- DEK-NUP214
  - T(3:3) - RPN1-EV11
  - T(1:22) - RBM15-MKL1
  - T(8:21) - RUNX1-RUNX1T1
  - T(15:17) - PML-RARA for APML
- Immunophenotyping:
  - Positive: Myeloid Markers - 13, 33, 117, Blast Markers - 34
  - Negative: T-Cell Markers - 2, 3, 5, 7, B-Cell Markers - 10, 20, Monocytic - 14, 64
- Cytochemistry:
  - Positive: MPO, SBB, Chloroacetate Esterase
  - Negative: PAS, Acid Phosphate, a-naphthylacetate esterase
- BM

Chronic Myeloid Leukemia (CML)

My identification technique: Crap ton of left shift and basophils
Differentials: AML, CMML, Reactive neutrophilia, Leukemoid Reaction, PCV, ET, MF
Tests and expectations:
- Cytogenetics:
  - T(9:22) - BCR-ABL
  - Negative JAK mutation rules out PCV, ET + MF.

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Description

Assess your knowledge of various hematological conditions including Cytopenias, Myelofibrosis, and Essential Thrombocytosis. This quiz covers differentials, identification techniques, and important tests related to these conditions. Challenge yourself on the tests and expectations needed to diagnose and differentiate these hematological disorders.