(494) The Young Patient: Fanconi Anemia and Head and Neck Cancer

Introduction: Patients with Fanconi Anemia (FA) have an increased risk of head and neck squamous cell carcinoma (HNSCC) with a younger of the onset, yet they tend to have worse survival. Given the rarity of FA, limited literature exists. This study aims to use a scoping review of the last four years to detail the current understanding of FA and HNSCC.

Methods: Studies were included if published between 2018-2022. Inclusion criteria consisted of case reports or series of patients aged 12-80 with both FA and HNSCC. Our case attributes were combined with the literature. Data extraction included age of diagnosis of HNSCC, sex, TNM staging, cancer site, history of stem cell transplantation therapy (SCT), cancer treatment, and whether HNSCC preceded or followed FA diagnosis.

Results: We present a case of a 28-year-old female with FA presenting with T4aN2bM0 oral cavity squamous cell carcinoma (OCSCC) of the tongue treated with primary surgical resection and adjuvant chemoradiation. Treatment was prematurely discontinued due to chemotherapy related toxicity. Recurrence in lymph nodes occurred five months postoperatively and the patient died two months later.

19 cases were included from 12 publications and our case. Median age at diagnosis of HNSCC was 32 years. Of these, 42% were women and 58% were men. Tumor staging was divided as 32% T4, 16% T3, 21% T2 and 26% T1 with 5% not reporting stage. The majority (63%) of patients presented with (OCSCC) and 47% had SCT for FA prior to diagnosis of HNSCC, 37% did not, and 16% did not specify. Treatment for 68% included primary surgery with 69% of surgical patients receiving adjuvant radiation or chemotherapy. The remaining 32% received primary chemotherapy, radiation, or a combination. Diagnosis of FA prior to HNSCC was present in 79% of the cases, while 21% of patients presented first with HNSCC.

Conclusions: Patients with FA present with HNSCC at an early age. Due to the high incidence of OCSCC, patients with FA should have regular cancer screening oral exams. Diagnosis with HNSCC prior to 40 years of age or those with aggressive disease characteristics or extreme toxicities to treatment may warrant evaluation for FA.