Pancreatic carcinoma surveillance in patients with familial melanoma.
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.


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


METHODS
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.


METHODS
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.
Parker
Jana Foley
JF
Department of Dermatology and Huntsman Cancer Institute and the Divisions of Gastroenterology and Oncology, University of Utah, Salt Lake City, Utah 84112, USA.
Florell
Scott R
SR
Alexander
April
A
DiSario
James A
JA
Shami
Paul J
PJ
Leachman
Sancy A
SA
D000230:Adenocarcinoma / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D000328:Adult; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D006801:Humans; D008297:Male; D008545:Melanoma / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D010375:Pedigree; D011159:Population Surveillance / Q000379:methods*; D012307:Risk Factors; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*
D019941:Cyclin-Dependent Kinase Inhibitor p16