HEAD AND NECK SQUAMOUS CELL CARCINOMA IN FAMMM SYNDROME

Background. Germline mutations at the INK4a/p16 locus are implicated in several human cancer syndromes, including familial atypical multiple mole melanoma (FAMMM) syndrome, FAMMM-pancreatic cancer (FAMMM-PC) syndrome, and in familial head and neck cancer syndrome. Methods. We present an individual with a family history of melanoma and pancreatic cancer who had multiple dysplastic nevi, squamous cell carcinoma of the tongue at age 22, multiple melanomas, a second squamous cell cancer of the tongue at age 40, and ultimately a pancreatic cancer. Results. We demonstrate a germline mutation in INK4a and loss of heterozygosity at this locus in his HNSCC tissue. Conclusions. This report suggests that INK4a germline mutations associated with FAMMM/FAMMM-PC can also be associated with HNSCC. We conclude that HNSCC in young individuals should prompt clinicians to obtain a family history and consider that the patient may have a germline p16 defect that could predispose them to other cancers, including melanoma and pancreatic cancer. (C) 2009 Wiley Periodicals, Inc. Head Neck 31: 1524-1527, 2009