Comprehensive characterization of RSPO fusions in colorectal traditional serrated adenomas

• DOI: 10.1111/his.13265
• Publication Date: 2017-05-25T16:58:17Z
• Authors: Shigeki Sekine; Reiko Ogawa; Taiki Hashimoto; Kojima Motohiro; Hiroshi Yoshida; Hirokazu Taniguchi; Yutaka Saito; Ohno Yasuhiro; Atsushi Ochiai; Nobuyoshi Hiraoka
• Keywords: Adenoma; Adult; Aged, 80 and over; Male; 0303 health sciences; Receptor-Like Protein Tyrosine Phosphatases, Class 2; Middle Aged; 03 medical and health sciences; Humans; Female; Gene Fusion; Colorectal Neoplasms; Thrombospondins; Aged

Aims Traditional serrated adenoma ( TSA ) is a rare but distinct type of colorectal polyp. Our previous study showed that PTPRK – RSPO 3 fusions are frequent and characteristic genetic alterations in s. This aimed to characterize comprehensively the prevalence variability Methods results We examined expression explored novel 129 s, including 66 lesions analysed previously for WNT pathway gene mutations. Quantitative polymerase chain reaction qPCR analyses identified three 43 s overexpressing 2 , respectively, whereas 1 4 was marginal or undetectable all cases. overexpression always mutually exclusive with other Known were detected 37 one which overexpressed . In addition, rapid amplification cDNA ends revealed fusion transcripts, an NRIP 1– two isoforms, six Overall, had (33%), four (3%) absence fusions. several clinicopathological features, distal localization P = 0.0063), larger size 0.0055), prominent ectopic crypt foci 8.4 × 10 −4 ), association high‐grade component 1.1 presence KRAS mutations 4.5 −5 ). Conclusions The present one‐third predominant cause