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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.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -