Association of melanoma with intraepithelial neoplasia of the pancreas in three patients

作者：Fidalgo Felipe; Gomes Elimar Elias; Facure Luciana Moredo; Da Silva Felipe Carneiro; Carraro Dirce Maria; Soares de Sa Bianca Costa; Duprat Neto Joao Pedreira; Victorino Krepischi Ana Cristina

来源：Experimental and Molecular Pathology, 2014, 97(1): 144-147.

DOI：10.1016/j.yexmp.2014.06.013

• Germline copy number variation
• CNV
• Melanoma
• Pancreatic cancer
• Intraepithelial neoplasia of pancreas

Melanoma and pancreatic cancer are two low frequency types of cancer. In this study, three patients who developed both melanoma and intraepithelial neoplasia of the pancreas were tested for CDKN2A mutations and deletions, and investigated for rare germline copy number variations (CNVs). The three patients were negative for CDKN2A point mutations and intragenic deletions. One of these patients carried two large (>300 kb) germline CNVs, both genomic duplications affecting coding sequences that are not copy number variable in the population. A second patient exhibited loss of the entire Y chromosome, an event probably coincidental related to his advanced age (79 years-old). Our data pinpoint that rare germline CNVs harboring genes can contribute to the cancer predisposition of melanoma and intraepithelial neoplasia of the pancreas.

• 出版日期2014-8