MED12L – Uterine Corpus Leiomyoma

A single case report has identified a deletion event affecting MED12L in a uterine leiomyoma, suggesting a potential role for MED12L in leiomyomagenesis (PMID:26468330). However, this initial observation was not corroborated in a larger multi‐patient study screening 362 leiomyoma tumors, where no MED12L mutations were detected (PMID:28693134). In this context, the genetic evidence is sparse with only one proband demonstrating a structural alteration and no supportive segregation data to reinforce causality.

No specific functional experiments or cellular/animal models have been reported to elucidate the mechanistic role of MED12L in uterine leiomyoma. The absence of recurrent or founder variants and the failure to replicate the mutation in independent cohorts further limits the clinical validity of this gene–disease association. Key take‑home sentence: Although a deletion impacting MED12L was observed in one leiomyoma, the overall evidence remains limited, constraining its current diagnostic utility.

References

• Molecular Cytogenetics • 2015 • A rare coincidence of different types of driver mutations among uterine leiomyomas PMID:26468330
• Oncology Letters • 2017 • Prevalence and clinical significance of mediator complex subunit 12 mutations in 362 Han Chinese samples with uterine leiomyoma PMID:28693134

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