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Panda Hematologic Neoplastic Disorders Flashcards

1
Q

Unique physical exam finding of AML with normal cytogenetics?

A

Gingival Hyperplasia

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2
Q

Immunophenotype of AML with normal cytogenetics?

A

CD34+

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3
Q

Gene product in AML with translocation

A

ETO-AML1 [RUNX1-RUNX1t1]

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4
Q

2 ways ETO-AML1 [RUNX1-RUNX1t1] gene product causes malignancy?

A

Protein binds DNA as a co-repressor and inhibits transcription needed for differentiation; forms constitutively active pro-proliferation system

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5
Q

Presentation of AML with translocation

A

pancytopenia and its related symptoms (infection, bleeding, fatigue/hypoxia)

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6
Q

Morphology of AML with translocation

A

Auer Rods (crystalized Myeloperoxidase); Large blasts with smudgy chromatin

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7
Q

Immunophenotype of AML?

A

CD13+, CD33+ (Maturing Myeloid); CD34+ (Blasts)

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8
Q

Protein product in Acute Promyelocytic Leukemia

A

PML-RARA; a fusion protein of transcription factor and retinoic acid receptor

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9
Q

What does the protein product do in Acute Premyelocytic Leukemia?

A

Inhibits granulocyte differentiation

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10
Q

Presentation of Acute Premyelocytic Leukemia?

A

Thrombocytopenia, DIC, and Leukocytosis

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11
Q

Immunophenotype of Acute Premyelocytic Leukemia?

A

CD34-, HLA-DR- (Low blasts, normal for APL); CD13+, CD33+ (immature myeloid markers)

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12
Q

Morphology of Acute Premyelocytic Leukemia?

A

Big blasts, Auer Rod Stacks, Heart-shaped/bat wing nuclei + Butterfly Nuclei

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13
Q

Protein product in Acute Myelomonocytic Leukemia?

A

Fusion protein of transcription factors CBFB-MYH11

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14
Q

Action of protein made in Acute Myelomonocytic Leukemia?

A

Inhibits myeloid maturation

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15
Q

Immunophenotype of Acute Myelomonocytic Leukemia?

A

CD34+ CD117+ (blasts); CD13+, CD33+ (maturing/granulocyte); CD14+, CD11b+ (monocyte)

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16
Q

Morphology of Acute Myelomonoctyic Leukemia?

A

Mixed granulocyte-monocyte features (myelomonocytic); Eosinophilia

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17
Q

Prognosis of Acute Myelomonoctyic Leukemia?

A

Prognosis is poor, chemo slightly improves condition

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18
Q

Genetic abnormality in AML?

A

translocation(8;21)

19
Q

Genetic abnormality in Acute Premyelocytic Leukemia?

A

translocation(15;17)

20
Q

Genetic abnormality in Acute Myelomonoctyic Leukemia?

A

inversion(16;16)

21
Q

Genetic abnormality in Chronic Myelogenous Leukemia?

A

translocation(9;22)

22
Q

Protein product in Chronic Myelogenous Leukemia?

A

p210 BRC-ABL1 [Philadelphia Chromosome]; increased tyrosine kinase activity

23
Q

Progression of Chronic Myelogneous Leukemia?

A

Blast Crisis 4-5 years after having CML; Chronic Phase–>Accelerated Phase–>Blast Phase–>Leukemia

24
Q

Treatment for Acute phase CML?

A

standrad chemo

25
Q

Treatment for chronic phase CML?

26
Q

Presentation of CML?

A

30-60 years (age related), asymptomatic
Hepatosplenomegaly
possible exposure to ionizing radiation or benzene

27
Q

Morphology of CML?

A

Bone marrow is hypercellular; Bone Marrow no blasts (pre blast crisis); Unexplained basophilia on peripheral smear (TAKE IT TO THE BANK)

28
Q

Mutations in Mastocytosis

A

C-KIT mutation; PDGF-RA via F1P1 translocation

29
Q

Presentation of mastocytosis?

A

tumors usually present outside the bone marrow or lymph nodes

30
Q

Immunophenotype of mastocytosis?

A

Tryptase+ (mast cell granule), CD117+ (Blast C-KIT, SCF-receptor), CD25+

31
Q

Treatment for mastocytosis?

32
Q

Morphology of mastocytosis?

A

Bland looking cells, possible eosinophilia

33
Q

Mutation in Primary Myelofibrosis?

A

Jak2 mutation on Chromosome 9 short arm; increased Tyrosine Kinase signaling via J/K pathway

34
Q

Pathogenesis of Myelofibrosis?

A

Abnormal megakaryocytes secrete cytokines–>deposition of Type 3 Collagen–> Marrow Fibrosis + Extra-medullary Hematopoiesis

35
Q

Presentation of Myelofibrosis?

A

> 50 year olds with splenomegaly, portal HTN, osteosclerosis/bone pain, cytokine-like symptoms (muscle wasting and thrombosis)

36
Q

Morphology of Myelofibrosis?

A

Bone marrow is full of type 3 collagen

Peripheral blood: abnormal megakaryocytes, abnormal platelets, teardrop RBCs, nucleated RBCs

37
Q

Treatment of Myelofibrosis?

A

Supportive care (blood transfusions)

38
Q

Mutation in Polycythemia Vera

A

Jak2 mutation on Chromosome 9 short arm- constitutive activation

39
Q

What cells are affected in Polycythemia Vera?

A

Erythroid lineage is mostly affected > megakaryocytes

40
Q

Pathophysiologic effect of Polycythemia Vera?

A

Increased RBC/Hct–> hyper-viscosity of blood–> thrombosis

41
Q

Presentation of Polycythemia Vera?

A

thrombosis, CNS symptoms, itchiness after hot bath, facies, blurred vision (retinal distention), splenomegaly

42
Q

Lab values in Polycythemia Vera?

A

Decreased Epo

43
Q

Treatment for Polycythemia Vera?

A

Phlebotomy, deplete Fe2+, ASA, myelosuppression

44
Q

Prognosis/Progression of Polycythemia Vera?

A

Progress to either myelodysplastic syndrome, Acute Myeloid Leukemia, Myelofibrosis

HEME (12 decks)

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