Multifocal endometriotic lesions associated with cancer are clonal and carry a high mutation burden

Michael S Anglesio, Ali Bashashati, Yi Kan Wang, Janine Senz, Gavin Ha, Winnie Yang, Mohamed R Aniba, Mohamed Radhouane Aniba, Leah M Prentice, Leah Prentice, Hossein Farahani, Hector Li Chang, Anthony N Karnezis, Marco A Marra, Paul J Yong, Martin Hirst, Blake Gilks, C. Blake Gilks, Sohrab P Shah, David G Huntsman
The Journal of Pathology · 2015 · vol. 236(2) , pp. 201–209 · doi:10.1002/path.4516 · PMID:25692284 · W1594350035
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This study found that multifocal endometriotic lesions associated with ovarian cancer are clonally related, with some lesions carrying cancer-associated mutations and the near-complete mutation profile of the primary tumor.

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Abstract

Endometriosis is a significant risk factor for clear cell and endometrioid ovarian cancers and is often found contiguous with these cancers. Using whole-genome shotgun sequencing of seven clear cell ovarian carcinomas (CCC) and targeted sequencing in synchronous endometriosis, we have investigated how this carcinoma may evolve from endometriosis. In every case we observed multiple tumour-associated somatic mutations in at least one concurrent endometriotic lesion. ARID1A and PIK3CA mutations appeared consistently in concurrent endometriosis when present in the primary CCC. In several cases, one or more endometriotic lesions carried the near-complete complement of somatic mutations present in the index CCC tumour. Ancestral mutations were detected in both tumour-adjacent and -distant endometriotic lesions, regardless of any cytological atypia. These findings provide objective evidence that multifocal benign endometriotic lesions are clonally related and that CCCs arising in these patients progress from endometriotic lesions that may already carry sufficient cancer-associated mutations to be considered neoplasms themselves, albeit with low malignant potential. We speculate that genomically distinct classes of endometriosis exist and that ovarian endometriosis with high mutational burden represents one class at high risk for malignant transformation.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Adenocarcinoma, Clear Cell Endometriosis Mutation Ovarian Neoplasms Adenocarcinoma, Clear Cell Class I Phosphatidylinositol 3-Kinases DNA-Binding Proteins DNA, Neoplasm DNA, Neoplasm Endometriosis Female Genome-Wide Association Study Humans Mutation Nuclear Proteins Nuclear Proteins Ovarian Neoplasms Phosphatidylinositol 3-Kinases Phosphatidylinositol 3-Kinases Precancerous Conditions

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