作者: Raymond Karkouche , Jean-Baptiste Bachet , Jeremy Sandrini , Emmanuel Mitry , Christophe Penna
DOI: 10.1097/MEG.0B013E3283583C87
关键词: KRAS 、 V600E 、 Cancer research 、 Carcinoma 、 Chemotherapy 、 Medicine 、 Histology 、 In situ hybridization 、 Colorectal cancer 、 Endocrine system
摘要: Objective Neuroendocrine carcinomas (NECs) are rare neoplasms with an increasing incidence. Oncogenetic pathways of colorectal NEC still poorly understood, and no treatment standards available for these tumors. Methods We analyzed retrospectively the clinical records histology 12 patients NEC. KRAS BRAF mutations were investigated after dissection exoendocrine neuroendocrine components. ALK alterations EML4-ALK transcripts detected by in-situ hybridization determination fusion transcripts, respectively. Results At time diagnosis, mean age was 60 years (40-79) 10 had synchronous metastases. A transient response occurred in two one patient treated cisplatin-etoposide or fluoropyrimidine-oxaliplatin, Tumor progression-related death 11 patients. Ten tumors contained exocrine component, accounting 5-70% tumor, other amphicrine component. BRAF/KRAS found six tumors, corresponding to BRAF(V600E) (n=2) KRAS(G12D) (n=2), KRAS(G12V) KRAS(G13D). DNA obtained from both endocrine components seven cases, status identical all cases. Split locus a minority tumor cells eight but absent. Conclusion The association component cases similar profile indicate that may correspond high-grade transformation carcinoma. New chemotherapy regimens using targeted therapies should be assessed