title: An ider(17)(q10)t(15;17) with spliced long-type PML-RARA fusion transcripts in a case of acute promyelocytic leukemia.
abstract: The ider(17)(q10)t(15;17) is a relatively rare chromosomal rearrangement in acute promyelocytic leukemia patients. We describe herein a case of APL with a poor prognosis and ider(17)(q10)t(15;17)(q22;q12), which was confirmed by fluorescence in situ hybridization. Reverse transcription polymerase chain reaction (RT-PCR) and sequencing of PCR products were used to detect the PML-RARA fusion gene and delineate the sequence of the fusion transcripts. We found that the PML-RARA fusion gene of this patient was the long isoform, which only generated transcripts of a splice variant lacking PML exon 5 and a splice variant lacking PML exons 5 and 6. Although the clinical and prognostic significance of patients with an ider(17)(q10)t(15;17) remains unclear, a combination of cytogenetics and molecular biology analysis should be performed to obtain further information about this chromosomal abnormality.
authors: Department of Hematology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
authors: Xiaojing
authors: X
authors: Hu
authors: Department of Hematology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
authors: Gongwen
authors: G
authors: Ai
authors: Department of Hematology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
authors: Xiuqin
authors: X
authors: Meng
authors: Department of Hematology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
authors: Jun
authors: J
authors: Hou
authors: Department of Hematology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
authors: Rong
authors: R
authors: Wei
authors: Department of Hematology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
authors: Yi
authors: Y
authors: Tao
authors: Department of Hematology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
authors: Qianqiao
authors: Q
authors: Zhang
authors: Department of Hematology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China.
authors: Ying
authors: Y
authors: Han
authors: Department of Hematology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, China. Electronic address: shijumei@hotmail.com.
authors: Jumei
authors: J
authors: Shi
mesh_terms: D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D000071156:Promyelocytic Leukemia Protein; D012326:RNA Splicing; D018168:Receptors, Retinoic Acid / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D000071156:Promyelocytic Leukemia Protein; D018168:Receptors, Retinoic Acid; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein; C070576:PML protein, human
keywords: Acute promyelocytic leukemia; ider(17)(q10)t(15;17); long-type PML-RARA; splice variant