Vaginal Angiomyofibroblastoma in a Patient With W arkany Syndrome (Mosaic Trisomy 8): A Case Report

Abstract

ABSTRACT Warkany syndrome, or mosaic trisomy 8, is a rare chromosomal disorder characterized by craniofacial dysmorphism, skeletal anomalies, and urogenital malformations, with no previously reported association with solid mesenchymal neoplasia. Angiomyofibroblastoma is an extremely rare benign mesenchymal tumor of the lower female genital tract with a largely uncharacterized cytogenetic background. We describe a 27‐year‐old nulliparous woman with constitutionally confirmed mosaic trisomy 8, established in childhood by peripheral blood karyotype, who presented with a protruding vaginal mass. Magnetic resonance imaging demonstrated a well‐defined, homogeneously enhancing mid‐vaginal mass and incidentally revealed uterus didelphys and bilateral ureteral ectopia, both recognized urogenital features of this syndrome. Complete surgical excision was performed, and histopathology with immunohistochemistry confirmed angiomyofibroblastoma. This is, to our knowledge, the first reported co‐occurrence of angiomyofibroblastoma and Warkany syndrome. Chromosome 8 status of the tumor was not evaluated, so any biological or causal relationship between constitutional trisomy 8 and tumor development remains hypothetical, and the co‐occurrence may be coincidental.

The authors' abstract, as published at the source. Journal of obstetrics and gynaecology research, 2026 · DOI ↗