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

Publication date: Available online 10 May 2017
Source:Human Pathology
Author(s): Kentaro Inamura, Maki Kobayashi, Hiroko Nagano, Yoshiya Sugiura, Masahiro Ogawa, Hitoshi Masuda, Junji Yonese, Yuichi Ishikawa
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.



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