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Updated: Jun 24, 2026
Isolation and Characterization of a Head and Neck Squamous Cell Carcinoma Subpopulation Having Stem Cell Characteristics
Published on: May 11, 2016
Head and neck squamous cell carcinoma in FAMMM syndrome
Vladimir Vinarsky1, Robert L Fine, Adel Assaad
1Department of Medicine, Columbia University, New York Presbyterian Hospital, New York, New York, USA.
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.
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