Evidence map›Paper›PMID 41102766›Full record

ArticleDiagnostic pathology2025

Metastatic endometrial stromal sarcoma with sex cord and neuroendocrine differentiation harboring a complex gene fusion.

Rayan Sibira, Katherine Cooke, Aarohi Shah, Xuan Li, Siddhartha Sen, Linda Varghese, Molly Klein

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PubMed Full text at PMC Publisher
In one paragraph

Article in Diagnostic pathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Rayan SibiraDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA. sibir001@umn.edu.ORCID http://orcid.org/0000-0002-2468-2371
Katherine CookeDepartment of Obstetrics, Gynecology and Women's Health, University of Minnesota, Minneapolis, MN, USA.
Aarohi ShahUniversity of Minnesota Medical School, Minneapolis, MN, USA.
Xuan LiDepartment of Gynecologic Oncology, University of Minnesota, Minneapolis, MN, USA.
Siddhartha SenDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.
Linda VargheseDepartment of Pathology, M Health Fairview, University of Minnesota Medical Center, Minneapolis, MN, USA.
Molly KleinDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA. meklein@umn.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLow-grade endometrial stromal sarcoma (LGESS) is a malignant stromal tumor characterized by an indolent clinical course, often with late recurrence or distant metastasis after a prolonged period of remission. These tumors can exhibit various lineage differentiations, making diagnosis challenging, especially in cases of remote recurrence. Most of these tumors are driven by fusions involving the JAZF1, SUZ12, and/or PHF1 genes. MATERIALS AND

methodsA case of metastatic endometrial stromal sarcoma was collected. Clinicopathologic and molecular features were documented.

resultsA senior lady with a remote history of an unknown uterine neoplasm. Imaging of the chest revealed bilateral, enlarging pulmonary nodules, which were histologically and immunohistochemically characterized as mesenchymal-like neoplastic cells with sex cord and neuroendocrine differentiation. RNA-based next-generation sequencing identified a complex JAZF1::DLG5::PHF1 fusion, confirming a diagnosis of metastatic endometrial stromal sarcoma with sex cord and neuroendocrine differentiation.

conclusionThis report underscores the propensity of low-grade endometrial stromal sarcoma to metastasize after a prolonged period of remission, in which the tumor exhibited sex cord and unique neuroendocrine differentiation. We also present a complex fusion in which the DLG5 gene acts as a 'filler' to maintain the in-frame configuration.

Indexed as

Endometrial NeoplasmsGene FusionLung NeoplasmsSarcoma, Endometrial StromalBiomarkers, TumorCell DifferentiationCo-Repressor ProteinsDNA-Binding ProteinsFemaleHumansMiddle AgedPolycomb-Group ProteinsTranscription FactorsTumor Suppressor ProteinsBiomarkers, TumorCo-Repressor ProteinsDNA-Binding ProteinsJAZF1 protein, humanPHF1 protein, humanPolycomb-Group ProteinsTranscription FactorsTumor Suppressor ProteinsDLG5JAZF1LGESSneuroendocrine differentiationPHF1Sex cord

Identifiers

PMID41102766
PMCPMC12532430

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.