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Genetics and Neoplasms
Genetic mutations in hematological neoplasms
11
Medical
Graduate
02/05/2011

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Cards

Term
Burkitt lymphoma
Definition
t(8;14)
80% of cases
Translocation of c-MYC close to IgH gene (V region)
Term
Follicular lymphoma
Definition
t(14;18)
~100%
BCL2-IgH affected
Term
Mantle cell lymphoma
Definition
t(11;14)
70%
Cyclin D1-IgH
Term
CML
Definition
Chronic myelogenous leukemia
t(9;22) Philadelphia chromosome
90-95%
BRC-ABL (can be blocked by Gleevec/Imatinib)
Term
ALL
Definition
Acute lymphocytic leukemia
t(12;21)
Hyperploidy
~25%
CBF alpha and ETV 6
Term
AML
Definition
Acute myeloid leukemia
AML (M2): t(8;21) CBF
AML (M4): Inv(16)
Term
Acute promyelocytic leukemia
Definition
(AML-M3) t(15;17)
~95%
RARA-PML
good prognosis
Term
CLL
Definition
Chronic lymphocytic leukemia
trisomy 12
del(17p) --> (p53 affected)
Term
Chronic myeloid disorders
Definition
JAK2 V617 mutations
pv: 95-100%
Term
T-ALL
Definition
NOTCH 1 mutation, gain of function
Term
Multiple myeloma
Definition
M1P1 alpha
t(4;14) more aggresive
del(13), del(17) better prognosis
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