title: Acute promyelocytic leukemia with a STAT5b-RARα fusion transcript defined by array-CGH, FISH, and RT-PCR.
abstract: Acute promyelocytic leukemia (APL) is characterized by the generation of the PML-RARα fusion transcript as a result of a reciprocal chromosomal rearrangement, t(15;17)(q22;q12), with breakpoints within the PML gene and the RARα gene. In a small proportion of APL cases, RARα is fused with a number of alternative partner genes. The signal transducer and activator of transcription 5 beta (STAT5b) is one of the variant partners. Here, we describe one rare case with all-trans retinoic acid (ATRA) -unresponsive APL characterized by the STAT5b-RARα fusion transcript. Morphology and immunophenotypic analyses indicated the typical features of APL; however, cytogenetic analysis exhibited a normal karyotype, and importantly, results of interphase fluorescence in situ hybridization (FISH) or reverse transcriptase-polymerase chain reaction (RT-PCR) analysis indicated that PML-RARα expression was negative. FISH analysis with the RARα dual-color break-apart rearrangement probe indicated a submicroscopic deletion of the 3' end of one RARA gene. Indeed, the STAT5b-RARα fusion transcript was found in this case by array-based comparative genomic hybridization and nested RT-PCR. To the best of our knowledge, we report here only the sixth APL patient in the world with the STAT5b-RARα fusion transcript. Additional clinical studies concerning the prognosis, response to therapy, and pathogenesis of APL patients with STAT5b-RARα fusion are necessary.
authors: Jingjiang People's Hospital, the Seventh Affiliated Hospital of Yangzhou University, Jiangsu Province, PR China.
authors: Haoyue
authors: H
authors: Chen
authors: Jinlan
authors: J
authors: Pan
authors: Li
authors: L
authors: Yao
authors: Lingyu
authors: L
authors: Wu
authors: Jianqin
authors: J
authors: Zhu
authors: Wei
authors: W
authors: Wang
authors: Chunhua
authors: C
authors: Liu
authors: Qiaoyan
authors: Q
authors: Han
authors: Guibin
authors: G
authors: Du
authors: Jiannong
authors: J
authors: Cen
authors: Yongquan
authors: Y
authors: Xue
authors: Depei
authors: D
authors: Wu
authors: Miao
authors: M
authors: Sun
authors: Suning
authors: S
authors: Chen
mesh_terms: D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D015473:Leukemia, Promyelocytic, Acute / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D000072482:Retinoic Acid Receptor alpha; D020133:Reverse Transcriptase Polymerase Chain Reaction; D050799:STAT5 Transcription Factor / Q000235:genetics*; D014178:Translocation, Genetic; D014212:Tretinoin / Q000627:therapeutic use
chemical_list: D000970:Antineoplastic Agents; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha; D050799:STAT5 Transcription Factor; C494095:STAT5B protein, human; D014212:Tretinoin