Head and neck squamous cell carcinoma in FAMMM syndrome

Head Neck. 2009 Nov;31(11):1524-7. doi: 10.1002/hed.21050.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Carcinoma, Squamous Cell / genetics*
  • Carcinoma, Squamous Cell / pathology*
  • Carcinoma, Squamous Cell / therapy
  • Dysplastic Nevus Syndrome / genetics
  • Dysplastic Nevus Syndrome / pathology*
  • Dysplastic Nevus Syndrome / therapy
  • Head and Neck Neoplasms / genetics*
  • Head and Neck Neoplasms / pathology*
  • Head and Neck Neoplasms / therapy
  • Humans
  • Male
  • Melanoma / genetics
  • Melanoma / pathology
  • Melanoma / therapy
  • Pancreatic Neoplasms / genetics
  • Pancreatic Neoplasms / pathology*
  • Pancreatic Neoplasms / therapy
  • Pedigree
  • Young Adult