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.