Introduction
Head and neck squamous cell carcinomas (HNSCCs) are prevalent and have high mortality rates that have remained largely unchanged in the last decade. In contrast, outcomes for many cancers have improved as a result of increased molecular understanding and personalized management. The persistent high mortality and clinical heterogeneity of HNSCC supports the need for a similar analysis.
Hypopharyngeal squamous cell carcinoma (SCC) has the poorest prognosis of all HNSCC subsites (oral cavity, oropharynx, larynx) thought in-part due to detection at late stages. Over two-thirds of patients with a hypopharyngeal SCC present with stage IV disease.1Five-year survival is much worse for stage IV (22%) compared to stage I (63%) andf stage II (57%). Early detection of hypopharyngeal tumors is challenging due to the less accessible location and the nonspecific nature of initial symptoms, which often mimic common benign disorders such as laryngopharyngeal reflux.
Analysis of risk factors for cancer may direct more comprehensive evaluation for patients with early stage hypopharyngeal SCC. Known risk factors for hypopharyngeal SCC include tobacco use, heavy alcohol use, Plummer-Vinson Syndrome-associated iron deficiency anemia and Fanconi Anemia.1-2 To our knowledge, germline BRCA2mutations have not been previously identified as a risk factor for hypopharyngeal SCC and awareness previously-suggested associations with SCC at other head and neck subsites is limited. We present a case of hypopharyngeal SCC with a concurrent germline BRCA2 mutation and bring attention to potential diagnostic and management implications.