| Literature DB >> 30649385 |
Fresia Pareja1, Ju Youn Lee1, David N Brown1, Salvatore Piscuoglio1,2, Rodrigo Gularte-Mérida1, Pier Selenica1, Arnaud Da Cruz Paula1, Sasi Arunachalam1, Rahul Kumar1, Felipe C Geyer1, Catarina Silveira1,3, Edaise M da Silva1, Anqi Li1, Caterina Marchiò4, Charlotte K Y Ng1,2, Odette Mariani5, Laetitia Fuhrmann5, Hannah Y Wen1, Larry Norton6, Anne Vincent-Salomon5, Edi Brogi1, Jorge S Reis-Filho1, Britta Weigelt1.
Abstract
Mucinous carcinoma of the breast (MCB) is a rare histologic form of estrogen receptor (ER)-positive/HER2-negative breast cancer (BC) characterized by tumor cells floating in lakes of mucin. We assessed the genomic landscape of 32 MCBs by whole-exome sequencing and/or RNA-sequencing. GATA3 (23.8%), KMT2C (19.0%), and MAP3K1 (14.3%) were the most frequently mutated genes in pure MCBs. In addition, two recurrent but not pathognomonic fusion genes, OAZ1-CSNK1G2 and RFC4-LPP, were detected in 3/31 (9.7%) and 2/31 (6.5%) samples, respectively. Compared with ER-positive/HER2-negative common forms of BC, MCBs displayed lower PIK3CA and TP53 mutation rates and fewer concurrent 1q gains and 16q losses. Clonal decomposition analysis of the mucinous and ductal components independently microdissected from five mixed MCBs revealed that they are clonally related and evolve following clonal selection or parallel evolution. Our findings indicate that MCB represents a genetically distinct ER-positive/HER2-negative form of BC.Entities:
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Year: 2019 PMID： 30649385 PMCID： PMC6624163 DOI： 10.1093/jnci/djy216
Source DB: PubMed Journal: J Natl Cancer Inst ISSN： 0027-8874 Impact factor: 13.506