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Head and neck squamous cell carcinoma in FAMMM syndrome.
Head Neck 2009; 31(11):1524-7HN

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.

Authors+Show Affiliations

Department of Medicine, Columbia University, New York Presbyterian Hospital, New York, New York, USA.

Pub Type(s)

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

Language

eng

PubMed ID

19360740

Citation

Vinarsky, Vladimir, et al. "Head and Neck Squamous Cell Carcinoma in FAMMM Syndrome." Head & Neck, vol. 31, no. 11, 2009, pp. 1524-7.
Vinarsky V, Fine RL, Assaad A, et al. Head and neck squamous cell carcinoma in FAMMM syndrome. Head Neck. 2009;31(11):1524-7.
Vinarsky, V., Fine, R. L., Assaad, A., Qian, Y., Chabot, J. A., Su, G. H., & Frucht, H. (2009). Head and neck squamous cell carcinoma in FAMMM syndrome. Head & Neck, 31(11), pp. 1524-7. doi:10.1002/hed.21050.
Vinarsky V, et al. Head and Neck Squamous Cell Carcinoma in FAMMM Syndrome. Head Neck. 2009;31(11):1524-7. PubMed PMID: 19360740.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Head and neck squamous cell carcinoma in FAMMM syndrome. AU - Vinarsky,Vladimir, AU - Fine,Robert L, AU - Assaad,Adel, AU - Qian,Ying, AU - Chabot,John A, AU - Su,Gloria H, AU - Frucht,Harold, PY - 2009/4/11/entrez PY - 2009/4/11/pubmed PY - 2010/2/26/medline SP - 1524 EP - 7 JF - Head & neck JO - Head Neck VL - 31 IS - 11 N2 - 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. SN - 1097-0347 UR - https://www.unboundmedicine.com/medline/citation/19360740/Head_and_neck_squamous_cell_carcinoma_in_FAMMM_syndrome_ L2 - https://doi.org/10.1002/hed.21050 DB - PRIME DP - Unbound Medicine ER -