Journal
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
Volume 108, Issue 6, Pages -Publisher
OXFORD UNIV PRESS INC
DOI: 10.1093/jnci/djv427
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Funding
- German Cancer Aid
- Susan G. Komen Postdoctoral Fellowship Grant [PDF14298348]
- CAPES [BEX 5714/14-1]
- Fundacio La Marata de TV3 [2/C2013]
- Fundacion Asociacion Espanola contra el Cancer
- ISCIII [RD12/0036/0064, PI13/02477]
- European Development Regional Fund
- Cancer Center Support Grant of the National Institutes of Health/National Cancer Institute [P30CA008748]
- [2014SGR138]
- [RD12/0036/0013]
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Synchronous early-stage endometrioid endometrial carcinomas (EECs) and endometrioid ovarian carcinomas (EOCs) are associated with a favorable prognosis and have been suggested to represent independent primary tumors rather than metastatic disease. We subjected sporadic synchronous EECs/EOCs from five patients to whole-exome massively parallel sequencing, which revealed that the EEC and EOC of each case displayed strikingly similar repertoires of somatic mutations and gene copy number alterations. Despite the presence of mutations restricted to the EEC or EOC in each case, we observed that the mutational processes that shaped their respective genomes were consistent. High-depth targeted massively parallel sequencing of sporadic synchronous EECs/EOCs from 17 additional patients confirmed that these lesions are clonally related. In an additional Lynch Syndrome case, however, the EEC and EOC were found to constitute independent cancers lacking somatic mutations in common. Taken together, sporadic synchronous EECs/EOCs are clonally related and likely constitute dissemination from one site to the other.
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