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Head and neck squamous cell carcinoma in FAMMM syndrome
Author(s) -
Vinarsky Vladimir,
Fine Robert L.,
Assaad Adel,
Qian Ying,
Chabot John A.,
Su Gloria H.,
Frucht Harold
Publication year - 2009
Publication title -
head and neck
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.012
H-Index - 127
eISSN - 1097-0347
pISSN - 1043-3074
DOI - 10.1002/hed.21050
Subject(s) - germline , head and neck squamous cell carcinoma , loss of heterozygosity , medicine , germline mutation , head and neck cancer , pancreatic cancer , tongue , cancer , melanoma , family history , locus (genetics) , oncology , cancer research , pathology , mutation , allele , biology , gene , genetics
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. © 2009 Wiley Periodicals, Inc. Head Neck, 2009