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Summary on genetic mutations in hematological neoplasm , and significance

Modified, Table 16-2 of T&T Genetics, 7th, p466


Neoplasm Burkitt lymphoma

Chromosome Translocation
t(8;14)(q24;q32)

Percentage of Cases
80%

Proto-oncogene Affected Translocation of c-MYC into close to IgH gene (V region) BCL2-IgH

Follicular lymphoma

t(14;18)(q32;q21)

100%

Mantle cell lymphoma

t(11;14)(q13;q32)

70%

Cyclin D1-IgH

Chronic myelogenous leukemia (CML) Acute lymphocytic leukemia (ALL) Acute Myeloid leukemia AML-(M2) AML-M4

t(9;22)(q34;q11) Philadelphia t(12;21) Hyperploidy

90%-95%

BCR-ABL

--Gleevec sensitive

25.4%

CBFa and ETV6

t (8;21) inv (16) 95%

CBF

--good prognosis --good prognosis

Acute promyelocytic leukemia t(15;17)(q22;q11) (AML-M3) Chronic lymphocytic leukemia Trisomy 12 (CLL) del(17) Chronic Myeloid Disorders JAK2 V617F mutations

RARA-PML --good prognosis

Unknown P53 PV-95-100% ET-50%, 50% in MF

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