Hematology Partners

Mutation Gene FAB Function/Misc. classification Translocation CBF1α/ETO fusion AML-M2 Block terminal 8:21 differentiation (favorable outcome) Translocation CBF1α/MYH11 AML-M4eo Block terminal 16:16; Inversion fusion differentiation 16 (favorable) Translocation PML/RAR AML-M3/M3v Block terminal 15:17 differentiation (intermediate) Medical emergency Tx: ATRA Translocation MLL diverse AML-M4,M5 Alter hematopoeisis 11q:23 fusion regulation (poor) Translocation c-myc/IgH fusion ALL-L3 Burkitt 8:14 Leukemia/lymphoma Translocation T(9:22)-p190 ALL T(12:21) better 12:21, 9:22- p190 tyrosine kinase prognosis than T(9:22) Translocation Abl/Bcr fusion CML Philadephia (9:22) chromosome (short 22) Tx: imatinib (gleevec) CD 10 -, CD5 +, CD23+, Translocation IgH/Bcl2 fusion Follicular CD10 +, CD5 -, CD23 - (14:18) lymphoma Translocation Cycline D1/ IgH Mantle cell GI tract lymphatoid 11:14 lymphoma polyposis; CD10 -, CD 5+, , CD23- Translocation ALK Anaplastic large Anaplastic large cell (2:5) rearrangement cell lymphoma with horseshoe or embryoid nucleus

Translocation 15:17 (AML-M3/M3V) Medical Emergency Tx: ATRA Translocation 9:22 (CML) Philadelphia chromosome (short 22) CML Tx: Imatinib (gleevec) Translocation 14:18 – type of cancer Follicular lymphoma Translocation 14:18 – genetic fusion IgH/Bcl2 fusion Translocation 8:14 – genetic fusion c-myc/IgH fusion Translocation 8:14 – type of cancer Burkitt leukemia/lymphoma Hematology Partners 1 Translocation 11: 14 – type of cancer Mantel cell lymphoma Translocation 11:14 – genetic fusion Cyclin D1/IgH Massive splenomegaly CML Primary myelofibrosis Hairy Cell Leukemia CLL 13q- trisomy 12 CLL transformation to large cell Richter syndrome lymphoma Hairy cell leukemia Older male Massive splenomegaly Pancytopenia (dry tap) Trap positive cells Blood Rouleax Polyclonal = chronic infection Monoclonal = myeloma Thymoma Epithelial tumor Cytokeratin positive Mycosis Fungoides Lymphoma Pastiuer microabscesses CD4 cells with cerebriform nucleus Sezary Syndrome Generalized erythroderma Mycosis fungoides leukemia CD4 cells with cerebriform nucleus Hodgkins lymphoma Reed-Steinberg cell eosinophilia Hemophilia-A Sex linked Decreased activity of FVIII vWF deficiency (inheritance) Autosomal dominant Antithrombin III deficiency (inheritance) Autosomal dominant Protein C and S deficiency Autosomal dominant Homozygous = purpura fulminans, death of the fetus Factor V Lieden mutation Activated protein C resistance Essential Polycythemia Jack II mutation

Hematology Partners 2 Hematology Partners 3