Adult granulosa cell tumours of the testis analogous to ovarian counterparts are exceptionally rare: analysis of a multicentric series and review of the literature
Year: 2025
Type: article
Study design: Observational Study
Abstract: AIMS: Testicular adult granulosa cell tumours (AGCTs) are rare and show several clinical-pathological differences with their ovarian counterparts. In a limited number of prior studies, FOXL2 p.Cys134Trp, the hallmark molecular alteration of ovarian AGCT, appeared to be infrequent in testicular AGCTs. However, the number of cases analysed to date is relatively small. METHODS AND RESULTS: Twenty testicular AGCTs were analysed de novo using two different next-generation sequencing (NGS) panels that cover sex cord-stromal tumour (SCST)-relevant genes, including FOXL2, CTNNB1, FH and DICER1. Among 12 tumours (12/20; 60%) that were sequenced successfully, none harboured FOXL2 mutations. Eight tumours (8/12, 66.7%) showed a wild-type (WT) status for all genes assessed with the panels. Three tumours harboured pathogenic or likely pathogenic CTNNB1 alterations. One of these exhibited predominant spindle cell morphology, while the other two showed focal tubular architecture. Immunohistochemistry performed in one of these tumours with available material showed β-catenin expression in ~70% of tumor cell nuclei. The remaining AGCTs showed variants of uncertain significance (likely benign) in KIT and MED12. Considering the tumors asseseed in this study and those previously reported in the literature, only 2 of 29 neoplasms classified as testicular AGCTs have shown a FOXL2 p.Cys134Trp mutation to date. CONCLUSIONS: The present study confirms that SCSTs classified as AGCTs differ from their ovarian counterparts in that they largely lack FOXL2 mutations.
Source: Histopathology
DOI: 10.1111/his.70048
Authors: Costantino Ricci, Dario de Biase, Thais Maloberti, Agnese Orsatti, Thomas M Ulbright, Muhammad T Idrees, Esther Oliva, Kristine Cornejo, João Lobo, Kvetoslava Michalova, Maria Rosaria Raspollini, Sean R Williamson, Geert JLH van Leenders, Chia‐Sui Kao, Fiona Maclean, Ankur R Sangoi, Adeboye O Osunkoya, Michelangelo Fiorentino, Antonio De Leo, Giovanni Tallini, Andres Martin Acosta
Institutions: Ospedale Maggiore Carlo Alberto Pizzardi, Azienda USL di Bologna, IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola, University of Bologna, Indiana University Indianapolis, Indiana University School of Medicine, Massachusetts General Hospital, Universidade do Porto, IPO Porto, Centro de Investigação do Instituto Português de Oncologia do Porto Francisco Gentil, Instituto de Ciências Biomédicas Albel Salazar, Charles University, Biopticka Laborator (Czechia), Azienda Ospedaliero-Universitaria Careggi, Cleveland Clinic, Erasmus MC, Erasmus University Rotterdam, Douglass Hanly Moir Pathology, Stanford Medicine, Stanford University, Emory University
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,840
OpenAlex ID: W4416423084