ArticleDiagnostic pathology2019
Leiomyoma with KAT6B-KANSL1 fusion: case report of a rapidly enlarging uterine mass in a postmenopausal woman.
Article in Diagnostic pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- Article
- Uterine sarcoma with KAT6B/A::KANSL1 fusion: an evolving entity.Virchows Archiv : an international journal of pathology · 2026Article
- Uterine sarcoma with KAT6B/A::KANSL1 fusion: a molecular and clinicopathological study on 9 cases.Virchows Archiv : an international journal of pathology · 2025Article
- In Vitro Effect of Estrogen and Progesterone on Cytogenetic Profile of Uterine Leiomyomas.International journal of molecular sciences · 2024Article
- Uterine mesenchymal tumours harboring the KAT6B/A::KANSL1 gene fusion represent a distinct type of uterine sarcoma based on DNA methylation profiles.Virchows Archiv : an international journal of pathology · 2024Article
- Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases.Virchows Archiv : an international journal of pathology · 2024Article
- A View on Uterine Leiomyoma Genesis through the Prism of Genetic, Epigenetic and Cellular Heterogeneity.International journal of molecular sciences · 2023Review
- Protracted clinical course of an AFF1 fusion positive uterine smooth muscle tumor causing diagnostic confusion over a course of 15 years.Gynecologic oncology reports · 2021Article
- Integrated mutational landscape analysis of uterine leiomyosarcomas.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Article
- Molecular and clinicopathologic characterization of intravenous leiomyomatosis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
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10 authors at 2 institutions in 1 country.
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Abstract
backgroundUterine leiomyomas, in contrast to sarcomas, tend to cease growth following menopause. In the setting of a rapidly enlarging uterine mass in a postmenopausal patient, clinical distinction of uterine leiomyoma from sarcoma is difficult and requires pathologic examination. CASE PRESENTATION: A 74-year-old woman presented with postmenopausal bleeding and acute blood loss requiring transfusion. She was found to have a rapidly enlarging uterine mass clinically suspicious for sarcoma. An abdominal hysterectomy and bilateral salpingo-oophorectomy were performed. A 15.5 cm partially necrotic intramural mass was identified in the uterine corpus. The tumor was classified as a cellular leiomyoma. RNA sequencing identified a KAT6B-KANSL1 fusion that was confirmed by RT-PCR and Sanger sequencing. After 6 months of follow-up, the patient remains asymptomatic without evidence of disease.
conclusionPrior studies of uterine leiomyomas have identified KAT6B (previously MORF) rearrangements in uterine leiomyomas, but this case is the first to identify a KAT6B-KANSL1 gene fusion in a uterine leiomyoma. While alterations of MED12 and HMGA2 are most common in uterine leiomyomas, a range of other genetic pathways have been described. Our case contributes to the evolving molecular landscape of uterine leiomyomas.
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