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Head and neck squamous cell carcinoma in FAMMM syndrome

✍ Scribed by Vladimir Vinarsky; Robert L. Fine; Adel Assaad; Ying Qian; John A. Chabot; Gloria H. Su; Harold Frucht

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
364 KB
Volume
31
Category
Article
ISSN
1043-3074

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✦ Synopsis

Abstract

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

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