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Background  Carcinomas of the small bowel are rare tumors usually with dismal prognosis. Most recently, some potentially treatable molecular alterations were described. We emphasize the growing evidence of individualized treatment options in small bowel carcinoma.    Methods  We performed a DNA- based multi-gene panel using ultra-deep sequencing analysis (including 14 genes with up to 452 amplicons in total;  KRAS, NRAS, HRAS, BRAF, DDR2, ERBB2, KEAP1, NFE2L2, PIK3CA, PTEN, RHOA ,  BRCA1, BRCA2 and TP53)  as well as an RNA-based gene fusion panel including  ALK, BRAF, FGFR1, FGFR2, FGFR3, MET, NRG1, NTRK1, NTRK2, NTRK3, RET  and  ROS1  on eleven formalin fixed and paraffin embedded small bowel carcinomas. Additionally, mismatch-repair-deficiency was analyzed by checking the microsatellite status using the five different mononucleotide markers  BAT25, BAT26, NR-21, NR-22  and  NR-27  and loss of mismatch repair proteins using four different markers ( MLH1, MSH6, MSH2, PMS2 ).    Results  In five out of eleven small bowel carcinomas we found potentially treatable genetic alterations. Three patients demonstrated pathogenic (class 5)  BRCA1  or  BRCA2  mutations – one germline-related in a mixed neuroendocrine-non neuroendocrine neoplasm (MiNEN). Two additional patients revealed an activating  ERBB2  mutation or  PIK3CA  mutation.  Furthermore two tumors were highly microsatellite-instable (MSI-high), in one case associated to Lynch-syndrome. We did not find any gene fusions.    Conclusion  Our results underscore, in particular, the relevance of potentially treatable molecular alterations (like  ERBB2, BRCA  and MSI) in small bowel carcinomas. Further studies are needed to proof the efficacy of these targeted therapies in small bowel carcinomas.

Alterations in ERBB2 and BRCA and microsatellite instability as new personalized treatment options in small bowel carcinoma