Characterization of the mutational landscape of anaplastic thyroid cancer via whole exome sequencing
作者： John W. Kunstman , C. Christofer Juhlin , Gerald Goh , Taylor C. Brown , Adam Stenman
DOI: 10.1093/HMG/DDU749
关键词: Anaplastic thyroid cancer 、 Neuroblastoma RAS viral oncogene homolog 、 Cancer research 、 Biology 、 Exome sequencing 、 Mutation 、 Carcinogenesis 、 Exome 、 Thyroid cancer 、 Thyroid carcinoma
摘要: Anaplastic thyroid carcinoma (ATC) is a frequently lethal malignancy that often unresponsive to available therapeutic strategies. The tumorigenesis of ATC and its relationship the widely prevalent well-differentiated carcinomas are unclear. We have analyzed 22 cases as well 4 established cell lines using whole-exome sequencing. A total 2674 somatic mutations (121/sample) were detected. Ontology analysis revealed majority variants aggregated in MAPK, ErbB RAS signaling pathways. Mutations genes related not previously associated with observed, including mTOR, NF1, NF2, MLH1, MLH3, MSH5, MSH6, ERBB2, EIF1AX USH2A; some which recurrent investigated 24 additional 8 lines. Somatic cancer detected 14 (64%) tumors included BRAF, TP53 RAS-family (6 each), PIK3CA (2 cases) single CDKN1B, CDKN2C, CTNNB1 RET mutations. BRAF V600E mutually exclusive; all exhibited combination either or NRAS TP53. hypermutator phenotype two >8 times higher mutational burden than remaining mean was identified; both harbored unique MLH mismatch-repair genes. This first comprehensive exome-wide landscape identifies novel potentially tumorigenesis, may be targets for future intervention.
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