A newly identified allelic mutation c.110C>T in the CTNNB1 gene in diffuse adenomyosis among young women—a report of two cases

This case report studied two young women with severe diffuse adenomyosis, using ultrasound/CT and surgical pathology to confirm diagnosis, followed by next-generation sequencing of uterine tissue. NGS identified the same newly reported CTNNB1 allelic mutation, c.110C>T (p.S37F in exon 3, EX3), in both patients, with no other gene mutations detected, and immunohistochemistry/immunofluorescence showed β-catenin staining restricted to the cell membrane. A major caveat is that the evidence is limited to two cases and does not include functional assays to determine how the mutation contributes to disease. Relevance to endometriosis: the paper discusses genetic and molecular alterations in adenomyosis in relation to overlapping mutational profiles reported in endometriosis, including shared features such as KRAS/PIK3CA patterns in some patients, though its primary focus is diffuse adenomyosis.

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