Observer Variation in the Diagnosis of Testicular Sex Cord-Stromal Tumors by a Genitourinary Pathology Society and International Society of Urological Pathology Panel: Paving the Way for a New Classification

The diagnosis of sex cord-stromal tumors is challenging. They show a wide spectrum of behaviors and associations with clinically important pathogenic germline variants. In view of recent advances in molecular subtyping and risk factors, we wished to investigate the differences in diagnosis for a range of these tumors using expert genitourinary pathologists with an interest in this area. Forty-four tumors were selected, and 18 pathologists (members of TEsticular Sex cord-Stromal Tumor group) were invited to view the cases online and give a diagnosis. Consensus was taken as 70% agreement. Consensus was achieved in 59% (26/44) cases. However, there were many areas of disagreement, which included variability in the diagnosis of Sertoli cell and Leydig cell tumors, particularly in malignant lesions, and difficulty in the assignation of fibrothecomas or myoid gonadal stromal tumors, as well as variability in the diagnosis of granulosa cell tumors and in the diagnosis of rarer pediatric tumors. Pathologists placed different weights on positivity with some markers, particularly beta-catenin, S100, and SMA. Some pathologists diagnosed novel diagnostic entities, such as inflammatory and nested testicular sex cord tumors, not currently in the World Health Organization classification. Recommendations to assist in the construction of a new classification to achieve more concordance and better treatment of these rare tumors are included.

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Publication Details

Journal
Modern Pathology
Published
2025-06-03
DOI
https://doi.org/10.1016/j.modpat.2025.100804
Citations
5
Primary Topic
Testicular diseases and treatments
Type
article
Field-Weighted Citation Impact
10.03
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article

Observer Variation in the Diagnosis of Testicular Sex Cord-Stromal Tumors by a Genitourinary Pathology Society and International Society of Urological Pathology Panel: Paving the Way for a New Classification

Fiona Maclean, Sean R. Williamson, Pilar Gonzalez‐Peramato, Maria Rosaria Raspollini et al.
5 citations
Modern Pathology
Testicular diseases and treatments
10.03
article

Observer Variation in the Diagnosis of Testicular Sex Cord-Stromal Tumors by a Genitourinary Pathology Society and International Society of Urological Pathology Panel: Paving the Way for a New Classification

Fiona Maclean, Sean R. Williamson, Pilar Gonzalez‐Peramato, Maria Rosaria Raspollini, Satish K. Tickoo, Anthony James Gill, Toyonori Tsuzuki, Květoslava Michalová, Muhammad T. Idrees, Chia‐Sui Kao, Sounak Gupta, Stephanie Siegmund, Kristine M. Cornejo, Éva Compérat, Daniel M. Berney, John C. Cheville, Andrés Matoso, Maurizio Colecchia, Miguel Reyes‐Múgica, Lynette M. Sholl, Andres Acosta, Thomas M. Ulbright
article en
5 citations

Abstract

The diagnosis of sex cord-stromal tumors is challenging. They show a wide spectrum of behaviors and associations with clinically important pathogenic germline variants. In view of recent advances in molecular subtyping and risk factors, we wished to investigate the differences in diagnosis for a range of these tumors using expert genitourinary pathologists with an interest in this area. Forty-four tumors were selected, and 18 pathologists (members of TEsticular Sex cord-Stromal Tumor group) were invited to view the cases online and give a diagnosis. Consensus was taken as 70% agreement. Consensus was achieved in 59% (26/44) cases. However, there were many areas of disagreement, which included variability in the diagnosis of Sertoli cell and Leydig cell tumors, particularly in malignant lesions, and difficulty in the assignation of fibrothecomas or myoid gonadal stromal tumors, as well as variability in the diagnosis of granulosa cell tumors and in the diagnosis of rarer pediatric tumors. Pathologists placed different weights on positivity with some markers, particularly beta-catenin, S100, and SMA. Some pathologists diagnosed novel diagnostic entities, such as inflammatory and nested testicular sex cord tumors, not currently in the World Health Organization classification. Recommendations to assist in the construction of a new classification to achieve more concordance and better treatment of these rare tumors are included.

Modern PathologyVol. 38(9)
Indiana University Health (US), Brigham and Women's Hospital (US), The University of Sydney (AU), Cleveland Clinic (US), Mayo Clinic (US), Memorial Sloan Kettering Cancer Center (US), Harvard University (US), University of Miami (US), Vita-Salute San Raffaele University (IT), Aichi Medical University (JP), Queen Mary University of London (GB), Hospital Universitario La Paz (ES), Massachusetts General Hospital (US), Douglass Hanly Moir Pathology (AU), Azienda Ospedaliero-Universitaria Careggi (IT), Mayo Clinic in Arizona (US), Biopticka Laborator (Czechia) (CZ), Johns Hopkins Hospital (US), HealthPartners (US), Indiana University – Purdue University Indianapolis (US), Universidad Autónoma de Madrid (ES), Medical University of Vienna (AT)
Gender equality
Openalex Percentile: Top 2%
Testicular diseases and treatments
10.03
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