1. CTNNB1 p.L31P mutation in an ovarian endometrioid carcinoma with synchronous uterine endometrioid carcinoma
- Author
-
Arianna Nicolussi, Innocenza Palaia, Irene Pecorella, Ludovico Muzii, Lucia Manganaro, Anna Coppa, and Francesco Fiorentin
- Subjects
0301 basic medicine ,Ovary ,synchronous cancers ,Pathology and Forensic Medicine ,endometrial cancer ,molecular profile ,ovarian cancer ,03 medical and health sciences ,0302 clinical medicine ,Ovarian carcinoma ,medicine ,Carcinoma ,Missense mutation ,PTEN ,Allele frequency ,biology ,Endometrial cancer ,Cell Biology ,medicine.disease ,030104 developmental biology ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Cancer research ,biology.protein ,Ovarian cancer - Abstract
We performed next generation sequencing of DNA extracted from the neoplastic tissues obtained from a patient who underwent surgery for a large right ovarian carcinoma (OC) of endometrioid type associated with endometrial cancer (EC). This was done in order to ascertain whether the tumors were synchronous endometrial/ovarian cancers or an advanced metastatic stage from either the ovary or the uterus. Pathologic criteria favoured synchronous EC/OC. We identified a PTEN c.959 T > G (p.L320X) truncating mutation occurring with similar allele frequency in both neoplastic tissues (ovary: 88 %, endometrium 89 %) and a CTNNB1 c.100C > G (p.S37C) activating mutation, with a comparable allelic frequency in both tumor tissues (ovary 51 %, endometrium 52 %). The shared genetic mutations, and the presence of PTEN c.959 T > G (p.L320X) truncating mutation, albeit at low allelic frequency (6 %), in the healthy peritumoral endometrial tissue, appear to confirm the recent literature on a primary endometrial origin for synchronous EC/OC. A third mutation was CTNNB1 c.92 T > C (p.L31 P), a missense mutation occurring with a low allele frequency (3.7 %) only in the ovarian cancer tissue. This mutation is only occasionally described in hepatocellular carcinomas.
- Published
- 2020
- Full Text
- View/download PDF