A novel fusion of HNRNPA1-ALK in inflammatory myofibroblastic tumor of urinary bladder

被引:21
作者
Inamura, Kentaro [1 ,2 ]
Kobayashi, Maki [1 ,2 ]
Nagano, Hiroko [1 ,2 ]
Sugiura, Yoshiya [1 ,2 ]
Ogawa, Masahiro [3 ]
Masuda, Hitoshi [3 ]
Yonese, Junji [3 ]
Ishikawa, Yuichi [1 ,2 ]
机构
[1] Japanese Fdn Canc Res, Canc Inst Hosp, Canc Inst, Div Pathol, Tokyo 1358550, Japan
[2] Japanese Fdn Canc Res, Canc Inst Hosp, Dept Pathol, Tokyo 1358550, Japan
[3] Japanese Fdn Canc Res, Canc Inst Hosp, Dept Urol, Tokyo 1358550, Japan
关键词
ALK; Chromosomal rearrangement; hnRNP; HNRNPA1-ALK fusion; Inflammatory myofibroblastic tumor; Spindle cell tumor; Urinary bladder tumor; GENE REARRANGEMENTS; TYROSINE KINASE; LYMPHOMA-KINASE; ALK; EXPRESSION;
D O I
10.1016/j.humpath.2017.04.022
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Here, we report an inflammatory myofibroblastic tumor (IMT) of the urinary bladder with a novel HNRNPA1-ALK fusion. To the best of our knowledge, this is the first case of a tumor with HNRNPA1-ALK fusion. A 42-year-old Japanese man underwent total cystectomy because of an invasive urinary bladder tumor. Grossly, the tumor had invaded the peribladder fat tissue. Histologically, it comprised spindle neoplastic cells with intermingled inflammatory cells. Immunohistochemically, it was positive for ALK, SMA, desmin, cytokeratin, and vimentin, consistent with the immunohistochemical characteristics of IMTs. Fluorescence in situ hybridization demonstrated an ALK split, and the presence of HNRNPA1-ALK was revealed by RNA sequencing. We identified a novel transcript fusion of exon 2 of HNRNPA1 and exon 18 of ALK, resulting in ALK protein overexpression. These findings provide useful information on the biology and tumorigenesis of IMTs, thus facilitating the development of molecular-targeted therapeutics. (C) 2017 Elsevier Inc. All rights reserved.
引用
收藏
页码:96 / 100
页数:5
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