Epidermoid carcinoma in the neovagina of a patient with Mayer-Rokitansky-Küster-Hauser syndrome. Case report and literature review

• Published in: Revista colombiana de obstetricia y ginecología Vol. 70; no. 4; pp. 266 - 276
• Main Authors: Fernández-Ruiz, Marta, Pantoja-Garrido, Manuel, Frías-Sánchez, Zoraida, Rodríguez-Jiménez, Inmaculada, Aguilar-Martín, María Del Valle
• Format: Journal Article
• Language: English; Spanish
• Published: Colombia 01.12.2019
• Subjects: 46, XX Disorders of Sex Development - surgery; Adenocarcinoma - pathology; Biopsy; Carcinoma, Squamous Cell - diagnosis; Carcinoma, Squamous Cell - pathology; Carcinoma, Squamous Cell - virology; Congenital Abnormalities - surgery; Female; Humans; Middle Aged; Mullerian Ducts - abnormalities; Mullerian Ducts - surgery; Nucleic Acid Amplification Techniques; Papillomavirus Infections - complications; Papillomavirus Infections - diagnosis; Surgically-Created Structures - pathology; Vagina - pathology; Vagina - surgery; Vaginal Neoplasms - diagnosis; Vaginal Neoplasms - pathology; Vaginal Neoplasms - virology; HPV infection; squamous-cell carcinoma; Congenital abnormalities; clinical case; mullerian aplasia; vaginal neoplasms
• ISSN: 2463-0225
• DOI: 10.18597/rcog.3328

To present the case of a squamous carcinoma in the neovagina of a patient with Mayer-Rokitansky-Küster-Hauser syndrome and review of the literature related to treatment and prognosis of vaginal neoplasms or HPV infection in transgender women or with MRKH syndrome. A 56-year-old woman consulted to the Hospital Universitario of Sevilla (Spain). During the clinical examination, a exophytic tumor at the bottom of the vagina was found and the biopsy reported squamous carcinoma and positive nucleic acid amplification test for human papilloma (HPV) type 16. A literature search of case reports, case series and observational studies published from 2000 to October 2019 in English and Spanish was performed in Medline via PubMed, with the follow- ing terms: "congenital abnormalities"; "Mullerian aplasia"; "neovagina"; "Vaginal neoplasms"; "Squamous carcinoma"; "HPV infection" was performed. 14 studies were finally included; seven corresponded to squamous cell carcinoma, three to adenocarcinoma and four reported HPV infection only. All of the squamous cell carcinomas were at advanced stages due to local or lymphatic compro- mise and received radiotherapy with concomitant chemotherapy or radical surgery. The prognosis was bad in three of the cases. Patients with adenocarcinoma also presented with advanced lesions due to local extensión and received surgical treatment and two cases received concomitant chemotherapy. Only one patient was followed-up for five years or more. HPV infection is common in women who underwent neovagina reconstruction. Patients with neovagina are susceptible to develope squamous carcinomas or adenocarcinomas depending if skin or intestinal tissue grafts are used. According to local compromise at the time of diagnosis, radical or combined treatments are required. Which screening strategies for HPV, squamous cell carcinomas and adenocarcinoma is to be investigated.