{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["N/A"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001006391"],"sample_count":["29"],"description":["EGA dataset EGAD00001006391"],"repository":["EGA"],"title":["NECC WXS"],"pubmed_abstract":["In order to improve treatment selection for high grade neuroendocrine carcinomas of the cervix (NECC), we performed a comparative genomic analysis between this rare tumor type and other cervical cancer types, as well as extra-cervical neuroendocrine small cell carcinomas of the lung and bladder. We performed whole exome sequencing on fresh-frozen tissue from 15 NECCs and matched normal tissue. We then identified mutations and copy number variants using standard analysis pipelines. Published mutation tables from cervical cancers and extra-cervical small cell carcinomas were used for comparative analysis. Descriptive statistical methods were used and a two-sided threshold of P < .05 was used for significance. In the NECC cohort, we detected a median of 1.7 somatic mutations per megabase (range 1.0-20.9). PIK3CA p.E545K mutations were the most frequency observed oncogenic mutation (4/15 tumors, 27%). Activating MAPK pathway mutations in KRAS (p.G12D) and GNAS (p.R201C) co-occurred in two tumors (13%). In total we identified PI3-kinase or MAPK pathway activating mutations in 67% of NECC. When compared to NECC, lung and bladder small cell carcinomas exhibited a statistically significant higher rate of coding mutations (P < .001 for lung; P = .001 for bladder). Mutation of TP53 was uncommon in NECC (13%) and was more frequent in both lung (103 of 110 tumors [94%], P < .001) and bladder (18 of 19 tumors [95%], P < .001) small cell carcinoma. These comparative genomics data suggest that NECC may be genetically more similar to common cervical cancer subtypes than to extra-cervical small cell neuroendocrine carcinomas of the lung and bladder. These results may have implications for the selection of cytotoxic and targeted therapy regimens for this rare disease."],"pubmed_title":["Comparative genomics of high grade neuroendocrine carcinoma of the cervix."],"pubmed_authors":["Hillman R Tyler RT, Cardnell Robert R, Fujimoto Junya J, Lee Won-Chul WC, Zhang Jianjun J, Byers Lauren A LA, Ramalingam Preetha P, Leitao Mario M, Swisher Elizabeth E, Futreal P Andrew PA, Frumovitz Michael M"],"additional_accession":[]},"is_claimable":false,"name":"01597d9d-b85e-43c5-b035-cb21abfeb9e1 - samples","description":"Whole exome sequencing of neuroendocrine cervical cancer","dates":{"updated":"2020-09-14 11:23:30"},"accession":"EGAD00001006391","cross_references":{"TAXONOMY":["9606"],"pubmed":["32544169"],"EGA":["EGAC00001001731","EGAS00001003142"]}}