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Massively Parallel Sequencing-Based Clonality Analysis of Synchronous Endometrioid Endometrial and Ovarian Carcinomas
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.
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