Detection of MED12 mutations in mesenchymal components of uterine adenomyomas.

Hum Pathol

Department of Cellular and Organ Pathology, Graduate School of Medicine, Akita University, 1-1-1 Hondo, Akita, Akita, 010-8543, Japan.

Published: March 2021

AI Article Synopsis

  • * The study investigated the genetic basis of adenomyomas by analyzing MED12 mutations, which are known to play a role in other uterine tumors, and involved examining 15 cases for genetic and histological characteristics.
  • * MED12 mutations were found in 13% of the adenomyomas, specifically in the mesenchymal part, while the epithelial part showed no mutations, indicating that not all adenomyomas are simply leiomyomas with glandular tissue. This suggests the presence of a true subset of mes

Article Abstract

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.2020.11.013DOI Listing

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