Massively parallel sequencing-based clonality analysis of synchronous endometrioid endometrial and ovarian carcinomas Journal Article


Authors: Schultheis, A. M.; Ng, C. K. Y.; De Filippo, M. R.; Piscuoglio, S.; Macedo, G. S.; Gatius, S.; Perez Mies, B.; Soslow, R. A.; Lim, R. S.; Viale, A.; Huberman, K. H.; Palacios, J. C.; Reis-Filho, J. S.; Matias-Guiu, X.; Weigelt, B.
Article Title: Massively parallel sequencing-based clonality analysis of synchronous endometrioid endometrial and ovarian carcinomas
Abstract: 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. © 2016 The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.
Journal Title: JNCI: Journal of the National Cancer Institute
Volume: 108
Issue: 6
ISSN: 0027-8874
Publisher: Oxford University Press  
Date Published: 2016-06-01
Start Page: djv427
Language: English
DOI: 10.1093/jnci/djv427
PROVIDER: scopus
PMCID: PMC4909128
PUBMED: 26832770
DOI/URL:
Notes: Article -- Export Date: 2 August 2016 -- Source: Scopus
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MSK Authors
  1. Robert Soslow
    634 Soslow
  2. Agnes Viale
    202 Viale
  3. Britta Weigelt
    256 Weigelt
  4. Jorge Sergio Reis
    280 Reis
  5. Kiu Yan Charlotte Ng
    151 Ng
  6. Raymond Sear Lim
    54 Lim