Adenomyoma of the uterus is a biphasic nodular lesion composed of a mesenchymal component with smooth muscle differentiation and a glandular epithelium. The neoplastic nature of uterine adenomyomas has been controversial because some are considered to be nodular adenomyosis. MED12 mutations are involved in the pathogenesis of uterine smooth muscle tumors (leiomyomas and leiomyosarcomas) and biphasic tumors of the breast (fibroadenomas and phyllodes tumor). To investigate the histogenesis of uterine adenomyomas, we performed pathological and genetic analyses, including Sanger sequencing of MED12. In total, 15 cases of uterine adenomyomas were retrieved and assessed for clinicopathological factors. Immunohistochemistry for smooth muscle actin, desmin, and CD10 was performed. Exon 2 of MED12 was Sanger sequenced using DNA obtained by macrodissection of the adenomyomas. For cases that were positive for somatic MED12 mutations, we next performed microdissection of the mesenchymal and epithelial components. The DNA extracted from each component was further analyzed for MED12 mutations. MED12 mutations were detected in two adenomyomas (2/15, 13%), all in a known hot spot (codon 44). In both lesions, MED12 mutations were detected in multiple spots of the mesenchymal component. The epithelial component did not harbor MED12 mutations. The relatively low frequency of MED12 mutations suggests that not all adenomyomas are leiomyomas with entrapped glands. However, the results of our study suggest that a subset of uterine adenomyomas are true mesenchymal neoplasms.
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http://dx.doi.org/10.1016/j.humpath.2020.11.013 | DOI Listing |
Sci Rep
January 2025
Department of Pathology, Faculty of Medicine, Damascus University, Damascus, Syria.
Uterine leiomyomas (uLMs) are the most prevalent benign tumors of the female reproductive system. MED12 is one of the mediator complex subunits that has been implicated in uLMs pathogenesis. Somatic mutations in exon2-MED12 have been found in ~ 70% of uLMs.
View Article and Find Full Text PDFJCO Precis Oncol
December 2024
Duke Cancer Institute, Duke University Hospital, Durham, NC.
Medicina (Kaunas)
November 2024
Department of Gastroenterology, Yamagata City Hospital Saiseikan, 1-2-26 Nanokamachi, Yamagata 990-0042, Japan.
Development
December 2024
Department of Molecular and Cellular Medicine, College of Medicine, Texas A&M University Health Science Center, College Station, TX 77843, USA.
The Mediator complex plays a pivotal role in facilitating RNA polymerase II-dependent transcription in eukaryotes. Within this complex, the CDK8 kinase module (CKM), comprising CDK8, Cyclin C (CycC), Med12 and Med13, serves as a dissociable subcomplex that modulates the activity of the small Mediator complex. Genetic studies in Drosophila have revealed distinct phenotypes associated with mutations in CKM subunits, but the underlying mechanisms have remained unclear.
View Article and Find Full Text PDFInt J Mol Sci
October 2024
The Lundquist Institute for Biomedical Innovation, Torrance, CA 90502, USA.
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