Low-grade endometrial stroma-like sarcoma with smooth-muscle-like differentiation, DOG1 expression and JAZF1::SUZ12 fusion in a male patient

•We present the fifth described case of a Low-grade endometrial stromal sarcoma arising in a male patient.•This case presented a smooth-muscle-like differentiation and weak and patchy DOG1 expression.•As initial histology remained uncertain, RNA sequencing was key to the diagnosis by highlighting JA...

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Bibliographic Details
Published in:Human Pathology Reports Vol. 42; p. 300808
Main Authors: Allaume, Pierre, Escuer, Louis, Henno, Sébastien, Merdrignac, Aude, Berra, Cyrille, Dugay, Frédéric, Loarer, François Le, Kammerer-Jacquet, Solène-Florence, Llamas-Gutierrez, Francisco
Format: Journal Article
Language:English
Published: Elsevier Inc 01.11.2025
Elsevier
Subjects:
DOG1
Endometrial Stroma Sarcoma
JAZF1
Mesenchymal Tumor
SUZ12
SUZ12
Endometrial Stroma Sarcoma
Mesenchymal Tumor
DOG1
JAZF1
ISSN:2772-736X, 2772-736X
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Summary:•We present the fifth described case of a Low-grade endometrial stromal sarcoma arising in a male patient.•This case presented a smooth-muscle-like differentiation and weak and patchy DOG1 expression.•As initial histology remained uncertain, RNA sequencing was key to the diagnosis by highlighting JAZF1::SUZ12 fusion.•Undescribed weak and patchy DOG1 expression was found in 50% of LG-ESS arising in women, a potential diagnostic pitfall.•All occurrences of described LG-ESS in males arose in the pelvic region, potentially from para-testis or prostatic stroma. Low-grade endometrial stromal sarcoma (LG-ESS) is an uncommon mesenchymal tumor typically arising in the uterine corpus, but has been rarely described in men. We present a case of a molecularly confirmed LG-ESS in a 60-year-old male patient, presenting as a pelvic mass with oligo-symptoms. The core-needle tumor sample demonstrated histological features of a low-grade fusocellular tumor with partial smooth muscle differentiation, strongly positive for smooth muscle actin and desmin, and weak DOG1 expression. Molecular analysis identified a JAZF1::SUZ12 gene fusion, akin to LG-ESS. This case underscores the potential challenge of diagnosing LG-ESS in men, where differential diagnoses include other tumors of mesenchymal origin such as gastrointestinal stromal tumors (GISTs) and solitary fibrous tumors, among others. As DOG1 expression in LG-ESS hasn’t been reported in the literature yet, we retrospectively performed DOG1 immunohistochemistry of eight cases LG-ESS in women, finding DOG1 expression in 50% of cases with a weak and heterogeneous pattern. This novel finding highlights a potential pitfall in the diagnosis of LG-ESS especially in men, and warrants further investigations.
ISSN:2772-736X
2772-736X
DOI:10.1016/j.hpr.2025.300808