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.
Vinarsky
Vladimir
V
Department of Medicine, Columbia University, New York Presbyterian Hospital, New York, New York, USA.
Fine
Robert L
RL
Assaad
Adel
A
Qian
Ying
Y
Chabot
John A
JA
Su
Gloria H
GH
Frucht
Harold
H
D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D004416:Dysplastic Nevus Syndrome / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics / Q000473:pathology / Q000628:therapy; D010190:Pancreatic Neoplasms / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D010375:Pedigree; D055815:Young Adult