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

Antonio Travaglino; Angela Santoro; Damiano Arciuolo; Antonio Raffone; Giulia Scaglione; Nicoletta D'Alessandris; Michele Valente; Stefania Sfregola; Caterina Fulgione; Maria Elisabetta Onori; Angelo Minucci; Gian Franco Zannoni

doi:10.1007/s00428-023-03556-z

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

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

Authors

Affiliations

¹ Pathology Unit, Department of Woman and Child's Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
² Pathology Unit, Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.
³ Pathology Institute, Catholic University of Sacred Heart, Rome, Italy.
⁴ Division of Gynecology and Human Reproduction Physiopathology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
⁵ Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
⁶ Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, Naples, Italy.
⁷ Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
⁸ Pathology Unit, Department of Woman and Child's Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. [email protected].
⁹ Pathology Institute, Catholic University of Sacred Heart, Rome, Italy. [email protected].

PMID: 37166561
DOI: 10.1007/s00428-023-03556-z

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.

Publication types

Case Reports

MeSH terms

Cystadenocarcinoma, Serous* / pathology
Female
Humans
Middle Aged
Mutation
Ovarian Neoplasms* / pathology
Peritoneum / pathology