The challenges of managing vulval squamous cell cancer in women with Fanconi anaemia: A case report and literature review

Women with Fanconi anaemia are predisposed to developing squamous cell carcinoma in the lower genital tract at a very young age due to inherent defects in their DNA repair mechanisms. This case report discusses the clinical and psychological aspects of the management of a young virgo intacta woman who presented with an HPV-independent squamous cell carcinoma and a separate high-grade vulvar intraepithelial neoplasia on the contralateral labium. It also discusses the underlying molecular changes that predispose these women to squamous cell carcinoma and highlights the challenges in implementing screening for neoplasia of the lower genital tract in this population. Owing to the rarity of Fanconi anaemia, women with the condition should be managed by a multidisciplinary team led by gynaecologists experienced in managing neoplasia in the lower genital tract. The involvement of a young adult cancer support group is essential, as treatment can have enduring psychosexual consequences for young women.