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Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
Massively Parallel Sequencing-Based Clonality Analysis of Synchronous Endometrioid Endometrial and Ovarian Carcinomas
Anne M Schultheis1, Charlotte K Y Ng1, Maria R De Filippo1
1Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY (AMS, CKYN, MRDF, SP, GSM, RAS, RSL, JSRF, BW); Department of Pathology, Hospital Universitario Arnau de Vilanova, University of Lleida, Lleida, Spain (SG, XMG); Department of Pathology, Hospital Universitario Ramón y Cajal, Madrid, Spain (BPM, JCP); Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (AV, KHH); Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY (JSRF).
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.
