A Deadly Duet: Fanconi Anemia (FA) With Head and Neck Cancer

Fanconi anemia (FA) is a rare, inherited disorder characterized by chromosomal instability, bone marrow failure, and predisposition to malignancies, including head and neck squamous cell carcinoma (HNSCC). The treatment of HNSCC in FA is challenging due to the extreme sensitivity of these patients to DNA-damaging agents. A 39-year-old male with FA presented with odynophagia and neck swelling. Examination revealed a mass at the base of the tongue (BOT) with bilateral cervical lymphadenopathy. Histopathology confirmed moderately differentiated squamous cell carcinoma (MD-SCC) (p16 negative). He underwent induction chemotherapy but developed severe myelosuppression. In view of the unusual clinical presentation, a mitomycin stress test was performed, confirming FA. Consequently, further chemotherapy was deferred, and radiotherapy was delivered with careful monitoring and supportive care. The patient achieved a complete metabolic response post-treatment. The case highlights the importance of radiation treatment in FA patients with exaggerated chemotherapy toxicities and the need for tailored management in this patient population.