CKIT mutation in therapy-related acute myeloid leukemia with MLLT3/MLL chimeric transcript from t(9;11)(p22;q23).

Abstract:

:Gain-of-function mutations of the CKIT gene have been reported to specifically occur in core-binding factor (CBF) acute myeloid leukemia (AML) with a poor prognostic implication. Here we report a case of therapy-related AML with t(9;11)(p22;q23) who had CKIT mutation. A 48-year-old woman with breast cancer received partial mastectomy followed by 6 cycles of adjuvant chemotherapy and radiation therapy. At 28 months from the diagnosis of breast cancer, she was diagnosed as having AML with blasts 81% in bone marrow. Cytogenetic analysis revealed t(9;11)(p22;q23), and FISH showed 96.5% of MLL break-apart signals. RT-PCR study revealed MLL(11q23)/MLLT3(9p22) chimeric transcript. FLT3-ITD and NPM1 mutations were both negative. Unexpectedly, mutation analyses for CKIT identified D816Y mutation. The patient received induction chemotherapy and achieved complete remission at 1 month. To the best of our knowledge, this is the first report on CKIT mutation in therapy-related AML with MLL rearrangement.

journal_name

Ann Clin Lab Sci

authors

Jung CL,Kim HJ,Kim DH,Huh H,Song MJ,Kim SH

subject

Has Abstract

pub_date

2011-04-01 00:00:00

pages

193-6

issue

2

eissn

0091-7370

issn

1550-8080

pii

41/2/193

journal_volume

41

pub_type

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