title: 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.
authors.affiliation: Assistant Professor, Department of Laboratory Medicine & Genetics, Samsung, Medical Center, Sungkyunkwan, University School of Medicine, 50 Ilwon-dong, Gangnam-gu, Seoul, Korea.
authors.forename: Chae Lim
authors.initials: CL
authors.lastname: Jung
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Dong-Hwan
authors.initials: DH
authors.lastname: Kim
authors.forename: Heejae
authors.initials: H
authors.lastname: Huh
authors.forename: Min-Jung
authors.initials: MJ
authors.lastname: Song
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Kim
mesh_terms: D001943:Breast Neoplasms / Q000150:complications / Q000628:therapy; D002880:Chromosomes, Human, Pair 11; D002899:Chromosomes, Human, Pair 9; D005260:Female; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D008875:Middle Aged; D009154:Mutation; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C497422:KMT2A protein, human; C489901:MLLT3 protein, human; C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase; D019009:Proto-Oncogene Proteins c-kit