Chiah Chester, Grant Lucy, Yap Jason, Kwong Fong Lien
School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham B15 2TT, UK.
Department of Histopathology, Birmingham Women's Hospital, Mindelsohn Way, Birmingham B15 2TG, UK.
Case Rep Womens Health. 2025 Jun 27;47:e00727. doi: 10.1016/j.crwh.2025.e00727. eCollection 2025 Oct.
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.
患有范可尼贫血的女性由于其DNA修复机制存在固有缺陷，在非常年轻时就易患下生殖道鳞状细胞癌。本病例报告讨论了一名年轻处女女性的临床和心理管理方面，该女性患有与HPV无关的鳞状细胞癌以及对侧阴唇单独的高级别外阴上皮内瘤变。报告还讨论了使这些女性易患鳞状细胞癌的潜在分子变化，并强调了在该人群中实施下生殖道肿瘤筛查的挑战。由于范可尼贫血罕见，患有这种疾病的女性应由由在管理下生殖道肿瘤方面经验丰富的妇科医生领导的多学科团队进行管理。青年癌症支持小组的参与至关重要，因为治疗可能会给年轻女性带来持久的性心理后果。
