CKIT mutation in therapy-related acute myeloid leukemia with MLLT3/MLL chimeric transcript from t(9;11)(p22;q23). 2011

Chae Lim Jung, and Hee-Jin Kim, and Dong-Hwan Kim, and Heejae Huh, and Min-Jung Song, and Sun-Hee Kim
Assistant Professor, Department of Laboratory Medicine & Genetics, Samsung, Medical Center, Sungkyunkwan, University School of Medicine, 50 Ilwon-dong, Gangnam-gu, Seoul, Korea.

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.

UI MeSH Term Description Entries
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009687 Nuclear Proteins Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus. Nucleolar Protein,Nucleolar Proteins,Nuclear Protein,Protein, Nuclear,Protein, Nucleolar,Proteins, Nuclear,Proteins, Nucleolar
D011495 Histone-Lysine N-Methyltransferase An enzyme that catalyzes the methylation of the epsilon-amino group of lysine residues in proteins to yield epsilon mono-, di-, and trimethyllysine. Protein Lysine Methyltransferase,Protein Methylase III,Protein Methyltransferase III,Histone-Lysine Methyltransferase,Histone Lysine Methyltransferase,Histone Lysine N Methyltransferase,Methyltransferase, Histone-Lysine,Methyltransferase, Protein Lysine,N-Methyltransferase, Histone-Lysine
D001943 Breast Neoplasms Tumors or cancer of the human BREAST. Breast Cancer,Breast Tumors,Cancer of Breast,Breast Carcinoma,Cancer of the Breast,Human Mammary Carcinoma,Malignant Neoplasm of Breast,Malignant Tumor of Breast,Mammary Cancer,Mammary Carcinoma, Human,Mammary Neoplasm, Human,Mammary Neoplasms, Human,Neoplasms, Breast,Tumors, Breast,Breast Carcinomas,Breast Malignant Neoplasm,Breast Malignant Neoplasms,Breast Malignant Tumor,Breast Malignant Tumors,Breast Neoplasm,Breast Tumor,Cancer, Breast,Cancer, Mammary,Cancers, Mammary,Carcinoma, Breast,Carcinoma, Human Mammary,Carcinomas, Breast,Carcinomas, Human Mammary,Human Mammary Carcinomas,Human Mammary Neoplasm,Human Mammary Neoplasms,Mammary Cancers,Mammary Carcinomas, Human,Neoplasm, Breast,Neoplasm, Human Mammary,Neoplasms, Human Mammary,Tumor, Breast
D002880 Chromosomes, Human, Pair 11 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 11
D002899 Chromosomes, Human, Pair 9 A specific pair of GROUP C CHROMSOMES of the human chromosome classification. Chromosome 9
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000090243 Nucleophosmin Predominantly localized in the CELL NUCLEOLUS, involved in diverse cellular processes such as ribosome biogenesis, cytoplasmic-nuclear trafficking, centrosome duplication, and regulation of p53. NO38 Protein,Nucleolar Phosphoprotein B23,Nucleolar Protein B23,Nucleophosmid,Numatrin,Phosphoprotein B23, Nucleolus,Protein B23,B23, Nucleolar Phosphoprotein,B23, Nucleolar Protein,B23, Nucleolus Phosphoprotein,B23, Protein,Nucleolus Phosphoprotein B23,Phosphoprotein B23, Nucleolar,Protein B23, Nucleolar,Protein, NO38

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