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Mutation profiling of adenoid cystic carcinomas from multiple anatomical sites identifies mutations in the RAS pathway, but no KIT mutations
Author(s) -
Wetterskog Daniel,
Wilkerson Paul M,
Rodrigues Daniel N,
Lambros Maryou B,
Fritchie Karen,
Andersson Mattias K,
Natrajan Rachael,
Gauthier Arnaud,
Palma Silvana Di,
Shousha Sami,
Gatalica Zoran,
Töpfer Chantal,
Vukovic Vesna,
A'Hern Roger,
Weigelt Britta,
VincentSalomon Anne,
Stenman Göran,
Rubin Brian P,
ReisFilho Jorge S
Publication year - 2013
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/his.12050
Subject(s) - hras , neuroblastoma ras viral oncogene homolog , sanger sequencing , biology , gene , mutation , germline mutation , adenoid cystic carcinoma , genetics , kras , cancer research , gnas complex locus , carcinoma
Aims The majority of adenoid cystic carcinomas (Ad CC s), regardless of anatomical site, harbour the MYB – NFIB fusion gene. The aim of this study was to characterize the repertoire of somatic genetic events affecting known cancer genes in Ad CC s.Methods and results DNA was extracted from 13 microdissected breast Ad CC s, and subjected to a mutation survey using the S equenom O nco C arta P anel v1.0. Genes found to be mutated in any of the breast Ad CC s and genes related to the same canonical molecular pathways, as well as KIT , a proto‐oncogene whose protein product is expressed in Ad CC s, were sequenced in an additional 68 Ad CC s from various anatomical sites by Sanger sequencing. Using the S equenom M ass ARRAY platform and S anger sequencing, mutations in BRAF and HRAS were identified in three and one cases, respectively (breast, and head and neck). KIT , which has previously been reported to be mutated in Ad CC s, was also investigated, but no mutations were identified.Conclusions Our results demonstrate that mutations in genes pertaining to the canonical RAS pathway are found in a minority of Ad CC s, and that activating KIT mutations are either absent or remarkably rare in these cancers, and unlikely to constitute a driver and therapeutic target for patients with Ad CC .