ArticleHuman molecular genetics2012
Expression profiling of uterine leiomyomata cytogenetic subgroups reveals distinct signatures in matched myometrium: transcriptional profilingof the t(12;14) and evidence in support of predisposing genetic heterogeneity.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 49 citations in OpenAlex.
- A systems-based approach to uterine fibroids identifies differential splicing associated with abnormal uterine bleeding.Communications medicine · 2025Article
- TRIM28 modulates nuclear receptor signaling to regulate uterine function.Nature communications · 2023Article
- A View on Uterine Leiomyoma Genesis through the Prism of Genetic, Epigenetic and Cellular Heterogeneity.International journal of molecular sciences · 2023Review
- Differential Expression of MED12-Associated Coding RNA Transcripts in Uterine Leiomyomas.International journal of molecular sciences · 2023Article
- Prevalence and clinical significance of co-existing mutations inFrontiers in reproductive health · 2023Article
- Loss of the repressor REST affects progesterone receptor function and promotes uterine leiomyoma pathogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Differential Expression of Super-Enhancer-Associated Long Non-coding RNAs in Uterine Leiomyomas.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Emerging Roles of Long Non-coding RNAs in Uterine Leiomyoma Pathogenesis: a Review.Reproductive sciences (Thousand Oaks, Calif.) · 2022Review
- Tryptophan 2,3-Dioxygenase-2 in Uterine Leiomyoma: Dysregulation by MED12 Mutation Status.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Cytogenomic Profile of Uterine Leiomyoma: In Vivo vs. In Vitro Comparison.Biomedicines · 2021Article
- Molecular and Cellular Insights into the Development of Uterine Fibroids.International journal of molecular sciences · 2021Review
- Leiomyoma with KAT6B-KANSL1 fusion: case report of a rapidly enlarging uterine mass in a postmenopausal woman.Diagnostic pathology · 2019Article
- Systematic tracking of altered modules identifies the key biomarkers involved in chronic lymphocytic leukemia.Oncology letters · 2019Article
- A novel method to identify differential pathways in uterine leiomyomata based on network strategy.Oncology letters · 2017Article
- Intravenous leiomyomatosis: an unusual intermediate between benign and malignant uterine smooth muscle tumors.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2016Article
- Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Endocrinology of uterine fibroids: steroid hormones, stem cells, and genetic contribution.Current opinion in obstetrics & gynecology · 2015Review
- MED12 and HMGA2 mutations: two independent genetic events in uterine leiomyoma and leiomyosarcoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2014Article
- Inactivation of AKT induces cellular senescence in uterine leiomyoma.Endocrinology · 2014Article
- An integrative genomic and transcriptomic analysis reveals potential targets associated with cell proliferation in uterine leiomyomas.PloS one · 2013Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Uterine leiomyomata (UL), the most common neoplasm in reproductive-age women, are classified into distinct genetic subgroups based on recurrent chromosome abnormalities. To develop a molecular signature of UL with t(12;14)(q14-q15;q23-q24), we took advantage of the multiple UL arising as independent clonal lesions within a single uterus. We compared genome-wide expression levels of t(12;14) UL to non-t(12;14) UL from each of nine women in a paired analysis, with each sample weighted for the percentage of t(12;14) cells to adjust for mosaicism with normal cells. This resulted in a transcriptional profile that confirmed HMGA2, known to be overexpressed in t(12;14) UL, as the most significantly altered gene. Pathway analysis of the differentially expressed genes showed significant association with cell proliferation, particularly G1/S checkpoint regulation. This is consistent with the known larger size of t(12;14) UL relative to karyotypically normal UL or to UL in the deletion 7q22 subgroup. Unsupervised hierarchical clustering demonstrated that patient variability is relatively dominant to the distinction of t(12;14) UL compared with non-t(12;14) UL or of t(12;14) UL compared with del(7q) UL. The paired design we employed is therefore important to produce an accurate t(12;14) UL-specific gene list by removing the confounding effects of genotype and environment. Interestingly, myometrium not only clustered away from the tumors, but generally separated based on associated t(12;14) versus del(7q) status. Nine genes were identified whose expression can distinguish the myometrium origin. This suggests an underlying constitutional genetic predisposition to these somatic changes which could potentially lead to improved personalized management and treatment.
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