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Pancreatic carcinoma surveillance in patients with familial melanoma.
Arch Dermatol 2003; 139(8):1019-25AD

Abstract

OBJECTIVE

To determine the optimal methods for pancreatic adenocarcinoma surveillance in high-risk patients with familial melanoma and cyclin-dependent kinase inhibitor 2A (CDKN2A) mutations.

DESIGN

Case report with pedigree analysis and literature review, with an emphasis on guideline development for high-risk kindreds with familial pancreatic adenocarcinoma.

SETTING

A university-affiliated familial melanoma research clinic. Patients The proband was referred as a participant in a research clinic protocol and was found to carry a germline CDKN2A mutation and have a history of melanoma and pancreatic adenocarcinoma. A total of 179 family members were identified through the Utah Population Database and underwent evaluation for history of melanoma and pancreatic adenocarcinoma.Intervention/

METHODS

Comprehensive family history and pedigree analysis performed by means of personal interview, medical record review, and use of cancer registry and population database records. Mutation status was confirmed by results of DNA sequence analysis. Tumor identity was confirmed with immunohistochemical markers.

MAIN OUTCOME MEASURES

Estimated risk for pancreatic adenocarcinoma in a high-risk family with CDKN2A-positive melanoma. Guidelines for surveillance in these families were based on review of the literature.

RESULTS

Sequence analysis confirmed a CDKN2A mutation, and immunohistochemical evaluation confirmed the diagnoses of metastatic melanoma and metastatic pancreatic adenocarcinoma. Pedigree analysis showed an observed-expected ratio of 8.9 to 12.6 for pancreatic adenocarcinoma and 16.4 to 20.8 for melanoma in this family. Guidelines used for surveillance of kindreds at high risk for pancreatic adenocarcinoma were applied to families with CDKN2A melanoma. Conclusion Patients with melanoma and a germline CDKN2A mutation should be considered for pancreatic adenocarcinoma surveillance that is based on the most recent published studies.

Authors+Show Affiliations

Department of Dermatology and Huntsman Cancer Institute and the Divisions of Gastroenterology and Oncology, University of Utah, Salt Lake City, Utah 84112, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Evaluation Study
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

12925390

Citation

Parker, Jana Foley, et al. "Pancreatic Carcinoma Surveillance in Patients With Familial Melanoma." Archives of Dermatology, vol. 139, no. 8, 2003, pp. 1019-25.
Parker JF, Florell SR, Alexander A, et al. Pancreatic carcinoma surveillance in patients with familial melanoma. Arch Dermatol. 2003;139(8):1019-25.
Parker, J. F., Florell, S. R., Alexander, A., DiSario, J. A., Shami, P. J., & Leachman, S. A. (2003). Pancreatic carcinoma surveillance in patients with familial melanoma. Archives of Dermatology, 139(8), pp. 1019-25.
Parker JF, et al. Pancreatic Carcinoma Surveillance in Patients With Familial Melanoma. Arch Dermatol. 2003;139(8):1019-25. PubMed PMID: 12925390.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pancreatic carcinoma surveillance in patients with familial melanoma. AU - Parker,Jana Foley, AU - Florell,Scott R, AU - Alexander,April, AU - DiSario,James A, AU - Shami,Paul J, AU - Leachman,Sancy A, PY - 2003/8/20/pubmed PY - 2003/9/4/medline PY - 2003/8/20/entrez SP - 1019 EP - 25 JF - Archives of dermatology JO - Arch Dermatol VL - 139 IS - 8 N2 - OBJECTIVE: To determine the optimal methods for pancreatic adenocarcinoma surveillance in high-risk patients with familial melanoma and cyclin-dependent kinase inhibitor 2A (CDKN2A) mutations. DESIGN: Case report with pedigree analysis and literature review, with an emphasis on guideline development for high-risk kindreds with familial pancreatic adenocarcinoma. SETTING: A university-affiliated familial melanoma research clinic. Patients The proband was referred as a participant in a research clinic protocol and was found to carry a germline CDKN2A mutation and have a history of melanoma and pancreatic adenocarcinoma. A total of 179 family members were identified through the Utah Population Database and underwent evaluation for history of melanoma and pancreatic adenocarcinoma.Intervention/ METHODS: Comprehensive family history and pedigree analysis performed by means of personal interview, medical record review, and use of cancer registry and population database records. Mutation status was confirmed by results of DNA sequence analysis. Tumor identity was confirmed with immunohistochemical markers. MAIN OUTCOME MEASURES: Estimated risk for pancreatic adenocarcinoma in a high-risk family with CDKN2A-positive melanoma. Guidelines for surveillance in these families were based on review of the literature. RESULTS: Sequence analysis confirmed a CDKN2A mutation, and immunohistochemical evaluation confirmed the diagnoses of metastatic melanoma and metastatic pancreatic adenocarcinoma. Pedigree analysis showed an observed-expected ratio of 8.9 to 12.6 for pancreatic adenocarcinoma and 16.4 to 20.8 for melanoma in this family. Guidelines used for surveillance of kindreds at high risk for pancreatic adenocarcinoma were applied to families with CDKN2A melanoma. Conclusion Patients with melanoma and a germline CDKN2A mutation should be considered for pancreatic adenocarcinoma surveillance that is based on the most recent published studies. SN - 0003-987X UR - https://www.unboundmedicine.com/medline/citation/12925390/Pancreatic_carcinoma_surveillance_in_patients_with_familial_melanoma_ L2 - https://jamanetwork.com/journals/jamadermatology/fullarticle/vol/139/pg/1019 DB - PRIME DP - Unbound Medicine ER -