Panda Hematologic Neoplastic Disorders

Question 1

Unique physical exam finding of AML with normal cytogenetics?

Answer 1

Gingival Hyperplasia

Question 2

Immunophenotype of AML with normal cytogenetics?

Answer 2

CD34+

Question 3

Gene product in AML with translocation

Answer 3

ETO-AML1 [RUNX1-RUNX1t1]

Question 4

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

Answer 4

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

Question 5

Presentation of AML with translocation

Answer 5

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

Question 6

Morphology of AML with translocation

Answer 6

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

Question 7

Immunophenotype of AML?

Answer 7

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

Question 8

Protein product in Acute Promyelocytic Leukemia

Answer 8

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

Question 9

What does the protein product do in Acute Premyelocytic Leukemia?

Answer 9

Inhibits granulocyte differentiation

Question 10

Presentation of Acute Premyelocytic Leukemia?

Answer 10

Thrombocytopenia, DIC, and Leukocytosis

Question 11

Immunophenotype of Acute Premyelocytic Leukemia?

Answer 11

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

Question 12

Morphology of Acute Premyelocytic Leukemia?

Answer 12

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

Question 13

Protein product in Acute Myelomonocytic Leukemia?

Answer 13

Fusion protein of transcription factors CBFB-MYH11

Question 14

Action of protein made in Acute Myelomonocytic Leukemia?

Answer 14

Inhibits myeloid maturation

Question 15

Immunophenotype of Acute Myelomonocytic Leukemia?

Answer 15

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

Question 16

Morphology of Acute Myelomonoctyic Leukemia?

Answer 16

Mixed granulocyte-monocyte features (myelomonocytic); Eosinophilia

Question 17

Prognosis of Acute Myelomonoctyic Leukemia?

Answer 17

Prognosis is poor, chemo slightly improves condition

Question 18

Genetic abnormality in AML?

Answer 18

translocation(8;21)

Question 19

Genetic abnormality in Acute Premyelocytic Leukemia?

Answer 19

translocation(15;17)

Question 20

Genetic abnormality in Acute Myelomonoctyic Leukemia?

Answer 20

inversion(16;16)

Question 21

Genetic abnormality in Chronic Myelogenous Leukemia?

Answer 21

translocation(9;22)

Question 22

Protein product in Chronic Myelogenous Leukemia?

Answer 22

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

Question 23

Progression of Chronic Myelogneous Leukemia?

Answer 23

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

Question 24

Treatment for Acute phase CML?

Answer 24

standrad chemo

Question 25

Treatment for chronic phase CML?

Answer 25

Imatinib

Question 26

Presentation of CML?

Answer 26

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

Question 27

Morphology of CML?

Answer 27

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

Question 28

Mutations in Mastocytosis

Answer 28

C-KIT mutation; PDGF-RA via F1P1 translocation

Question 29

Presentation of mastocytosis?

Answer 29

tumors usually present outside the bone marrow or lymph nodes

Question 30

Immunophenotype of mastocytosis?

Answer 30

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

Question 31

Treatment for mastocytosis?

Answer 31

Imatinib

Question 32

Morphology of mastocytosis?

Answer 32

Bland looking cells, possible eosinophilia

Question 33

Mutation in Primary Myelofibrosis?

Answer 33

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

Question 34

Pathogenesis of Myelofibrosis?

Answer 34

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

Question 35

Presentation of Myelofibrosis?

Answer 35

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

Question 36

Morphology of Myelofibrosis?

Answer 36

Bone marrow is full of type 3 collagen | Peripheral blood: abnormal megakaryocytes, abnormal platelets, teardrop RBCs, nucleated RBCs

Question 37

Treatment of Myelofibrosis?

Answer 37

Supportive care (blood transfusions)

Question 38

Mutation in Polycythemia Vera

Answer 38

Jak2 mutation on Chromosome 9 short arm- constitutive activation

Question 39

What cells are affected in Polycythemia Vera?

Answer 39

Erythroid lineage is mostly affected > megakaryocytes

Question 40

Pathophysiologic effect of Polycythemia Vera?

Answer 40

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

Question 41

Presentation of Polycythemia Vera?

Answer 41

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

Question 42

Lab values in Polycythemia Vera?

Answer 42

Decreased Epo

Question 43

Treatment for Polycythemia Vera?

Answer 43

Phlebotomy, deplete Fe2+, ASA, myelosuppression

Question 44

Prognosis/Progression of Polycythemia Vera?

Answer 44

Progress to either myelodysplastic syndrome, Acute Myeloid Leukemia, Myelofibrosis