ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2016
Exploring chromosomal abnormalities and genetic changes in uterine smooth muscle tumors.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Frequency of MED12 Mutation in Relation to Tumor and Patient's Clinical Characteristics: a Meta-analysis.Reproductive sciences (Thousand Oaks, Calif.) · 2022Pooled it
- Molecular genetic analysis of pulmonary benign metastasizing leiomyoma and intravenous leiomyomatosis: a comparative study using whole exome sequencing.Discover oncology · 2025Article
- Genomic characterization and histologic analysis of uterine leiomyosarcoma arising from leiomyoma with bizarre nuclei.The Journal of pathology · 2025Article
- The Functional Role of the Long Non-Coding RNA LINCMD1 in Leiomyoma Pathogenesis.International journal of molecular sciences · 2024Article
- The Effect of Race/Ethnicity and MED12 Mutation on the Expression of Long Non-Coding RNAs in Uterine Leiomyoma and Myometrium.International journal of molecular sciences · 2024Article
- The Role of Pathogenesis Associated with the Tumor Microclimate in the Differential Diagnosis of Uterine Myocytic Tumors.Journal of clinical medicine · 2023Article
- Molecular-Based Immunohistochemical Algorithm for Uterine Leiomyosarcoma Diagnosis.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023Article
- Differential Expression of MED12-Associated Coding RNA Transcripts in Uterine Leiomyomas.International journal of molecular sciences · 2023Article
- Differential Expression of Super-Enhancer-Associated Long Non-coding RNAs in Uterine Leiomyomas.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Leiomyoma with nuclear atypia: Rare diseases that present a common diagnostic problem.Seminars in diagnostic pathology · 2022Review
- Emerging Roles of Long Non-coding RNAs in Uterine Leiomyoma Pathogenesis: a Review.Reproductive sciences (Thousand Oaks, Calif.) · 2022Review
- Leiomyoma with Bizarre Nuclei: A Current Update.International journal of women's health · 2022Review
- Cytogenomic Profile of Uterine Leiomyoma: In Vivo vs. In Vitro Comparison.Biomedicines · 2021Article
- Long Noncoding RNA MIAT Modulates the Extracellular Matrix Deposition in Leiomyomas by Sponging MiR-29 Family.Endocrinology · 2021Article
- Parity associates with chromosomal damage in uterine leiomyomas.Nature communications · 2021Article
- Integrated histologic and molecular analysis of uterine leiomyosarcoma and 2 benign variants with nuclear atypia.Cancer science · 2021Article
- Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- Leiomyoma with Bizarre Nuclei: a Study of 108 Cases Focusing on Clinicopathological Features, Morphology, and Fumarate Hydratase Alterations.Pathology oncology research : POR · 2020Article
- Understanding Obesity as a Risk Factor for Uterine Tumors Using Drosophila.Advances in experimental medicine and biology · 2019Review
- Fumarate Hydratase Mutations and Alterations in Leiomyoma With Bizarre Nuclei.International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists · 2018Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Smooth muscle tumors of the uterus are a diagnostically challenging group of tumors. Molecular surrogate markers reliably distinguishing between benign and malignant tumors are not available. Therefore, the diagnosis is based on morphologic criteria. The aim was to investigate a well-characterized group of challenging uterine smooth muscle tumors consisting of 20 leiomyomas, 13 leiomyomas with bizarre nuclei, and 14 leiomyosarcomas for copy number alterations, MED12 mutations and FH deletions to search for potential diagnostically useful surrogate markers. MED12 mutations were detected in 47, 15, and 25% of leiomyomas, leiomyomas with bizarre nuclei and leiomyosarcomas, respectively. MED12 mutations in leiomyomas with bizarre nuclei were detected outside the hotspot region. FH-deletions were seen in 27, 30.8, and 25% of leiomyomas, leiomyomas with bizarre nuclei and leiomyosarcomas, respectively. By using copy number alteration profiling a clear separation of leiomyomas, leiomyomas with bizarre nuclei and leiomyosarcomas could not be observed. Copy number alterations revealed clear genetic similarities between leiomyomas with bizarre nuclei and leiomyosarcomas. Leiomyosarcomas showed a similar pattern of gains and losses as leiomyomas with bizarre nuclei, with additional copy number alterations and more homozygous losses and high-level amplifications compared to leiomyomas with bizarre nuclei. In conclusion, this study demonstrates that known FH-deletions, a recurrent molecular change in leiomyomas, occur in morphologically challenging variants of leiomyomas, leiomyomas with bizarre nuclei and leiomyosarcomas. Although MED12 mutations are common in leiomyomas, they infrequently occur in leiomyomas with bizarre nuclei and leiomyosarcomas. The genetic similarities between leiomyomas with bizarre nuclei and leiomyosarcomas raise the intriguing possibility that uterine leiomyomas with bizarre nuclei and leiomyosarcomas are closely related and challenge the traditional concept that leiomyoma with bizarre nuclei is a tumor with just marked 'degenerative' cellular changes. These findings support the hypothesis that tumor progression within uterine smooth muscle tumors might occur.
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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.