Hematological Malignancies

Question 1

chronic myelogenous leukemia

Answer 1

t(9;22) philadelphia chromosome. Myeloid and lymphoid cells affected. 40-60 yrs of age. BM hypercellular. Blast crisis occasionally, BASOPHILIA in PS. Treat with imatinib

Question 2

mastocytosis

Answer 2

C-KIT mutation. PDGF-RA activation vai F1P1 translocation. Histamine release in skin causes urticaria pigmentosum. TRYPTASE+. CD117+, CD25+

Question 3

Primary myelofibrosis

Answer 3

50% JAK2 mutation. abnormal megs fibrose BM. Massive splenomegaly, bone pain, Reticulin+. TEAR DROP RBCs.

Question 4

Polycythemia vera

Answer 4

95% JAK2 mutated. increased RBC/HCT. Itchiness after hot shower., facies, blurred vision, splenomegaly. Look at EPO levels. Low EPO=malignancy, high EPO=hypoxia induced. Hypercellular marrow, increased RBCs.

Question 5

essential thrombocythemia

Answer 5

50% Jak2 mutation. Excess of abnormal platelets and megs. HIGH platelets. Thrombosis. Meg fragments.

Question 6

AML w/ normal cytogenetics

Answer 6

any nonlymphatic cell lineage could be affected. Gingivitis, bleeding. leukostasis. CD34+, Lots of BLASTS.

Question 7

AML with abnormal cytogenetics

Answer 7

t(8;21) ETO-AML mutation. pancytopenia. CD13, 33+, CD34+, HLA-DR+. AUER RODS and Lots of BLASTS. MPO+

Question 8

Acute promyeloctyic leukemia

Answer 8

t(15;17) PML-RARA. granulocyte differentiation inhibited. thrombocytopenia, DIC, leukocytosis. CD13,33+. CD34-. AUER ROD STACKS, BUTTERFLY NUCLEI.

Question 9

acue myelomonocytic leukemia

Answer 9

inv(16;16) CBFB-MYH11. CD12,33+, CD34,117+ = blasts. CD14,11b+ = monocytes. Mixed gran-mono features.
Treat with cytarabine.

Question 10

refractory cytopenia with unilineage dysplasia

Answer 10

clonally expanded mutation of ONE stem cell iine. >65 yrs. Cytopenia. Megaloblastoid, binucleated RBCs. Hypercellular marrow.

Question 11

Refractory anemia w/ ringed sideroblasts

Answer 11

clonal expansion of mutation in erythroid cell line. anemia and IRON OVERLOAD. sideroblasts.

Question 12

Myelodyplastic syndrome

Answer 12

loss of 5q (5-). mononuclear megs. Megs fail to divide. severe anemia. Treat with Lenalidomide

Question 13

refractory cytopenia with multilineage dysplasia

Answer 13

expanded mutation in multiple cell lines. severe anemia, whatever cell lines affected will be messed up

Question 14

Refractory anemia with excess blasts

Answer 14

about to turn into leukemia. Worst prognosis for lymphomas. Cytopenia. CD34, 117+ for blasts.
RAEB-1 and RAEB2. many develop into AML.