ArticleVirchows Archiv : an international journal of pathology2019
Low-grade endometrial stromal sarcoma with a novel MEAF6-SUZ12 fusion.
Article in Virchows Archiv : an international journal of pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 29 citations in OpenAlex.
- A Challenging Diagnosis of Endometrial Stromal Sarcoma in a 50-Year-Old Patient: Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2025Article
- Metastatic endometrial stromal sarcoma with sex cord and neuroendocrine differentiation harboring a complex gene fusion.Diagnostic pathology · 2025Article
- BCOR abnormalities in endometrial stromal sarcoma.Gynecologic oncology reports · 2025Review
- Predictive Role of Cluster Bean (Genes · 2024Article
- Epigenetic Features in Uterine Leiomyosarcoma and Endometrial Stromal Sarcomas: An Overview of the Literature.Biomedicines · 2022Review
- JAZF1-SUZ12 dysregulates PRC2 function and gene expression during cell differentiation.Cell reports · 2022Article
- LG-ESSs and HG-ESSs: underlying molecular alterations and potential therapeutic strategies.Journal of Zhejiang University. Science. B · 2021Review
- MACF1 promotes osteoblast differentiation by sequestering repressors in cytoplasm.Cell death and differentiation · 2021Article
- Update on Endometrial Stromal Tumours of the Uterus.Diagnostics (Basel, Switzerland) · 2021Review
- Molecular pathogenesis and prognostication of "low-grade'' and "high-grade" endometrial stromal sarcoma.Genes, chromosomes & cancer · 2021Review
- The clinical, morphological, and genetic heterogeneity of endometrial stromal sarcoma.Virchows Archiv : an international journal of pathology · 2020Article
- Polycomb and Trithorax Group Proteins: The Long Road from Mutations in Drosophila to Use in Medicine.Acta naturaeArticle
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Endometrial stromal sarcoma (ESS) is a rare mesenchymal neoplasm. Herein, we report a low-grade ESS with a novel MEAF6-SUZ12 fusion gene. A 40-year-old woman presented with a 9.0-cm abdominal wall mass juxtaposed to the postoperative scar of surgeries for uterine "leiomyomas" and cesarean section. Histologically, mostly hypocellular and myxoid nodules were comprised of uniform spindle cells and exhibited tongue-like infiltration. Immunohistochemically, the tumor cells were positive for CD10, estrogen receptor, and CD34 (focal). There were occasional h-caldesmon-positive cohesive nests. RNA sequencing along with reverse transcriptase-polymerase chain reaction and Sanger sequencing identified an in-frame fusion of MEAF6 (exon 4) and SUZ12 (exon 2). Upon review of the previous "leiomyomas," we revised their diagnoses as low-grade ESS. The patient is alive without disease 2 years after the surgery. In addition to expanding the molecular landscape of low-grade ESS, this case highlights the challenge of diagnosing low-grade ESS in an uncommon clinicopathological setting.
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