Case 5

Question 1

Chronic Myeloid Leukemia (CML)

Answer 1

• t9:22 Philadelphia chromosome (BCR-ABL fusion protein)
• 3 Phases: chronic, accelerate, blast crisis
• Sx: fatigue, abdominal pain in LUQ, pallor, splenomegaly
• Labs: ↓ Hg, ↑ WBC, ↑ platelets, basophils & eosinophils
• Tx: Imatinib

Question 2

Myelodysplastic Disorders (MDS)

Answer 2

• Dysplasia in precursor cells in bone marrow and peripheral blood so low WBC, Hg and platelets
• Common in pts w/hx of chemo
• Use flow cytometry & cytogenetic testing for more info
• 10%-60% → AML
• Associated w/chromosomal abnormalities (5q-)
• Sx: pallor, delayed clotting,
• Tx: Methotrexate

Question 3

Juvenile Myelomonocytic Leukemia

Answer 3

• Seen in infancy & childhood

* Philadelphia chromosome neg

Question 4

Chronic Myelomonocytic Leukemia (CMMoL)

Answer 4

• MDS
• Overproduction of maturing monocytic cells
• Philadelphia chromosome neg
• No blast cells

Question 5

What are the 4 Myeloproliferative Disorders?

Answer 5

1. Chronic Myelogenous Leukemia (CML)
2. Polycythemia Rubra Vera (PV)
3. Essential Thrombocytosis (ET)
4. Primary Myelofibrosis

Question 6

Polycythemia Ruba Vera

Answer 6

• Can be primary (PRV) or secondary (hypoxemia)
• Pts frequently obese w/sleep apnea
• Sx: NO splenomegaly, fatigue, headaches
• Labs: ↓ Epo, Jak2 mutation, ↑ WBC, Hg & platelets smear shows loads of RBCs
• Tx: phlebotomy, hydroxyurea

Question 7

Essential Thrombocytosis

Answer 7

• Excessive number of platelets
• Often confused with secondary thrombocytosis (Fe Deficiency)
• Purely a platelet problem
• Pts are asymptomatic
• Jak2 Mutation positive
• Hemorrhage can cause serious morbidity
• Labs: ↑ platelets, RBC & WBCs normal

Question 8

Primary Myelofibrosis

Answer 8

• Extensive bone marrow scarring
• Age at Dx > 60
• Jak2 mutation in 50% of cases
• Common end stage of PV and ET
• Sx: splenomegaly
• Labs: ↓ RBCs, WBCs & platelets, ↑ Megakaryocytes → ↑ PDGF → marrow fibrosis, teardrop cells on smear
• Tx: Ruxonlitinib

Question 9

Which MDS are based on peculiar cellular morphology? (2)

Answer 9

1. RARS (refractory anemia w/ringed sideroblasts)

2. CMMoL

Question 10

Which MDS are based on number of marrow blasts? (3)

Answer 10

1. RA (refractory anemia)
2. RAEB (refractory anemia w/excess blasts)
3. RAEB-IT (refractory anemia w/excess blasts in transformation)

Question 11

What causes the syndromes in MDS?

Answer 11

Cytopenias (anemia, leukopenia, thrombocytopenia)

Question 12

AML

Answer 12

• Malignant clonal proliferation of immature myeloid cells in bone marrow.
• Greater in older patients (50-60 yrs. old)
• Sx: fatigue, conjunctival pallor, anemia, neutropenia, thrombocytopenia, DIC (delayed PT & PTT), NO hepatosplenomegaly
• Tx: consolidation, TBI & bone marrow transplant

Question 13

AML M3 (aka acute promyelocytic leukemia)

Answer 13

• t15:17 mutation
• Hypergranular
• Auer rods in smear
• Bad prognostic factors: age >60, WBC >20,000 at dx, CNS involvement
• Tx: ATRA (Vitamin A)

Question 14

Leukemoid Reaction

Answer 14

• > 50,000 WBCs
• Everything is morphologically normal, just increased number
• In stain see: toxic granulations & Dohle bodies