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Case Reports
. 2023 Dec;483(6):879-883.
doi: 10.1007/s00428-023-03556-z. Epub 2023 May 11.

High-grade serous ovarian carcinoma with a sertoliform pattern associated with BRCA mutation: a clinicopathological and molecular analysis

Antonio Travaglino  1   2 , Angela Santoro  1 , Damiano Arciuolo  1   3 , Antonio Raffone  4   5 , Giulia Scaglione  1 , Nicoletta D'Alessandris  1 , Michele Valente  1 , Stefania Sfregola  1 , Caterina Fulgione  6 , Maria Elisabetta Onori  7 , Angelo Minucci  7 , Gian Franco Zannoni  8   9
Affiliations
Case Reports

High-grade serous ovarian carcinoma with a sertoliform pattern associated with BRCA mutation: a clinicopathological and molecular analysis

Antonio Travaglino et al. Virchows Arch. 2023 Dec.

Abstract

Herein, we report a clinicopathological and molecular analysis of a case of tubo-ovarian high-grade serous carcinoma (HGSC) with a sertoliform pattern. A 45-year-old woman underwent surgery due to an advanced bilateral adnexal carcinoma with peritoneal and appendiceal metastases. Histological examination revealed an HGSC exhibiting a distinct sertoliform component. Such component showed diffuse PAX8, p53 (mutation-type), and p16 (block-type) expression, increased vimentin and decreased WT1 expression compared to the conventional HGSC component, membrane β-catenin positivity, heterogeneous estrogen, and progesterone positivity, and retained PTEN and mismatch repair expression and negativity for GATA3, TTF1, inhibin, calretinin, CD10, CDX2, chromogranin, and synaptophysin. Molecular analysis showed a germline BRCA2 mutation; no mutations were detected in POLE, POLD1, MLH1, MSH2, MSH6, PMS2, APC, CTNNB1, MUTYH, and EPCAM. In conclusion, a sertoliform pattern can be part of the morphological spectrum of BRCA-related HGSC.

Keywords: BRCA; High-grade serous carcinoma; Ovarian carcinoma; Sertoliform; Sex cord.

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