title: Identification of the STAT5B-RARα fusion transcript in an acute promyelocytic leukemia patient without FLT3, NPM1, c-Kit and C/EBPα mutation.
abstract: T(15;17) is the most common chromosomal aberration in patients with acute promyelocytic leukemia (APL), leading to the formation of PML-RARα fusion gene. In a small subset of patients with APL, the RARα gene is fused with different partners. Here, we report a rare APL case with STAT5B-RARα fusion transcript. Cytomorphologic and immunophenotypic analyses showed typical features of APL. However, cytogenetic analysis showed normal karyotype, and interphase fluorescence in situ hybridization (FISH) showed PML-RARα negative. Quantitative RT-PCR also showed PML-RARα negative but STAT5B-RARα positive and sequencing analysis confirmed the result. Molecular markers including FLT3, NPM1, c-Kit and C/EBPα mutation were all negative. To our knowledge, this is the first APL patient with STAT5B-RARα in Chinese population and the fifth patient around the world according to published paper.
authors: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, China.
authors: Chun
authors: C
authors: Qiao
authors: Su-Jiang
authors: SJ
authors: Zhang
authors: Li-Juan
authors: LJ
authors: Chen
authors: Kou-Rong
authors: KR
authors: Miao
authors: Jian-Fu
authors: JF
authors: Zhang
authors: Yu-Jie
authors: YJ
authors: Wu
authors: Hai-Rong
authors: HR
authors: Qiu
authors: Jian-Yong
authors: JY
authors: Li
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001483:Base Sequence; D022763:CCAAT-Enhancer-Binding Protein-alpha / Q000235:genetics; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics* / Q000628:therapy; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D000090243:Nucleophosmin; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D050799:STAT5 Transcription Factor / Q000235:genetics*; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics
chemical_list: D022763:CCAAT-Enhancer-Binding Protein-alpha; D004273:DNA, Neoplasm; C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D050799:STAT5 Transcription Factor; C456500:STAT5-RARalpha protein, human; D000090243:Nucleophosmin; C497970:FLT3 protein, human; D019009:Proto-Oncogene Proteins c-kit; D051941:fms-Like Tyrosine Kinase 3