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

IF 0.7 Q4 OBSTETRICS & GYNECOLOGY

Case Reports in Women's Health Pub Date : 2025-06-27 DOI:10.1016/j.crwh.2025.e00727

Chester Chiah , Lucy Grant , Jason Yap , Fong Lien Kwong

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Abstract

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.

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范可尼贫血女性外阴鳞状细胞癌治疗的挑战：1例报告和文献复习

范可尼贫血的妇女由于其DNA修复机制的固有缺陷，在很小的时候就容易在下生殖道发展为鳞状细胞癌。本病例报告讨论了一名年轻处女座完整女性的临床和心理方面的管理，她表现为hpv独立的鳞状细胞癌和对侧阴唇单独的高级别外阴上皮内瘤变。它还讨论了潜在的分子变化，使这些妇女易患鳞状细胞癌，并强调了在这一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，患有此病的妇女应由具有处理下生殖道肿瘤经验的妇科医生领导的多学科小组进行治疗。年轻成人癌症支持团体的参与至关重要，因为治疗可能对年轻女性产生持久的性心理影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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