ArticlePathology oncology research : POR2020
Leiomyoma with Bizarre Nuclei: a Study of 108 Cases Focusing on Clinicopathological Features, Morphology, and Fumarate Hydratase Alterations.
Article in Pathology oncology research : POR, 2020. 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, 28 citations in OpenAlex.
- Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases.Virchows Archiv : an international journal of pathology · 2024Article
- Uterine Leiomyomas with Specific Histology Features of Two Fumarate Hydratase/Succinate Dehydrogenase-Deficient Tumors: A Double Case Report.Medicina (Kaunas, Lithuania) · 2024Article
- Fumarate hydratase mutation associated uterine leiomyomas: A case report and literature review.Clinical case reports · 2024Article
- Gene variants polymorphisms and uterine leiomyoma: an updated review.Frontiers in genetics · 2024Review
- Article
- Leiomyoma with nuclear atypia: Rare diseases that present a common diagnostic problem.Seminars in diagnostic pathology · 2022Review
- Uterine cellular leiomyomas are characterized by common HMGA2 aberrations, followed by chromosome 1p deletion and MED12 mutation: morphological, molecular, and immunohistochemical study of 52 cases.Virchows Archiv : an international journal of pathology · 2022Article
- Risk of Recurrence in Uterine Leiomyoma with Bizarre Nuclei: a Systematic Review and Meta-Analysis.Geburtshilfe und Frauenheilkunde · 2021Article
- Integrated histologic and molecular analysis of uterine leiomyosarcoma and 2 benign variants with nuclear atypia.Cancer science · 2021Article
- Analysis of expression, epigenetic, and genetic changes of HNF1B in 130 kidney tumours.Scientific reports · 2020Article
- Expression, Epigenetic, and Genetic Changes of HNF1B in Colorectal Lesions: an Analysis of 145 Cases.Pathology oncology research : POR · 2020Article
- HNF1B, EZH2 and ECI2 in prostate carcinoma. Molecular, immunohistochemical and clinico-pathological study.Scientific reports · 2020Article
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10 authors at 1 institution in 1 country.
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Abstract
Leiomyoma with bizarre nuclei (LBN) is an uncommon variant of uterine smooth muscle neoplasm. Involvement of fumarate hydratase (FH) has been suggested in the pathogenesis of a subset of LBN. The goal of our study is to assess the clinicopathological, morphological, immunohistochemical and molecular findings focusing on FH in LBNs (n = 108) and compare it with the findings in usual leiomyomas (UL; n = 50) and leiomyosarcomas (LMS; n = 42). Immunohistochemically, loss of FH expression was found in 67/108 of LBN, 1/50 of UL and in no LMS. Class 4/5 FH mutations were detected in 15/53 LBN with sufficient DNA quality for molecular analysis. Pathogenic variants of the FH gene were detected in neither UL nor LMS. Local recurrence after surgery was present in 18/92 of LBN patients, 7 of which were histologically verified and 2 of which were found to be LBN. Our results confirmed that LBN behave in a benign fashion, although they may relapse. FH gene mutations were a common finding only in LBN, but not in UL and LMS. Immunohistochemistry with an antibody against FH seems to have a good sensitivity (87%) and moderate specificity (58%) with regard to predicting FH gene mutations and could be used as a screening method in tumors with features suggestive of FH alterations to identify patients who are at risk for the FH aberrations.
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