Vaginal Angiomyofibroblastoma in a Patient With Warkany Syndrome (Mosaic Trisomy 8): A Case Report.
Enas A Amaireh, Marah Marahleh, Maysa Al-Hussaini et al.
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Case in brief
A 27-year-old nulliparous woman with constitutionally confirmed mosaic trisomy 8 presented with a protruding vaginal mass. MRI showed a well-defined, homogeneously enhancing mid-vaginal lesion and incidentally identified uterus didelphys and bilateral ureteral ectopia. The mass was completely excised, and histopathology with immunohistochemistry confirmed angiomyofibroblastoma. The report does not describe subsequent clinical follow-up. Chromosome 8 status was not assessed in the tumor.
What made this case unusual
The report describes the co-occurrence of angiomyofibroblastoma and Warkany syndrome; the authors note that no prior association with solid mesenchymal neoplasia had been reported. Whether constitutional trisomy 8 is related to tumor development is unknown, and the co-occurrence may be coincidental.
Diagnostic / clinical pearl
A protruding vaginal mass in a patient with mosaic trisomy 8 may require imaging and histopathology for diagnosis; in this case, MRI characterized the lesion, while tissue examination confirmed angiomyofibroblastoma.