ArticleVirchows Archiv : an international journal of pathology2026
ESR1::NCOA2/3 fusions in uterine neoplasms with adenosarcoma-like morphology: clinicopathologic and molecular features of 12 cases and review of the literature.
Article in Virchows Archiv : an international journal of pathology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- A case report of uterine adenosarcoma with sarcomatous overgrowth and pulmonary metastasis.Frontiers in oncology · 2026Article
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Abstract
The molecular pathogenesis of uterine adenosarcoma (uAS; synonym: Müllerian adenosarcoma) is confounded by its pathologic heterogeneity, with DICER1 mutations and TP53 pathway alterations reported in most tumors with high-grade morphology, stromal overgrowth and/ or rhabdomyoblastic differentiation. However, a small subset of tumors harbor gene fusions, but their molecular spectrum and clinicopathological correlations have not been defined. We identified 12 uAS-like neoplasms in our files carrying ESR1 gene fusions and reviewed 4 previously reported cases (total: 16). Patient's age range was 34 - 76 years (median, 54). The tumors originated in the uterus body (5), unspecified uterus segment (5), cervix (1) and isthmus (1). Follow-up was available for 6 patients (median 44 months, range 9 months-20 years). One patient developed lung metastasis 52 months later and one had an abdominopelvic recurrence > 20 years later. Four patients were disease-free at 9-55 months. All tumors harbored in-frame ESR1 fusions (10 with ESR1::NCOA3, 1 ESR1:NCOA2 and 1 ESR1::MAMLD1). Nine tumors were low-grade and 3 high-grade. All lacked heterologous elements. Stromal overgrowth was recorded in three (all high-grade) and sex cord-like elements in 4 tumors. Phyllodiform architecture, admixed Mullerian glands, and periglandular stromal condensation distinguished the 4 tumors with sex cord-like elements from conventional uterine tumors resembling ovarian sex cord tumor (UTROSCT). This study expands the overlapping morphologic and molecular spectrum of uterine neoplasms resembling uAS showing recurrent fusions (mostly ESR1::NCOA3/2), associated with mostly low-grade histology, lack of heterologous elements and paucity of stromal overgrowth. The nosological relationship of these uAS-like tumors to UTROSCT (driven similarly by ESR1::NCOA3/2 fusions) and to fusion-negative high-grade uAS remains to be verified in future studies utilizing epigenetics and other tools.
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