Open AccessNeuroendocrine Merkel Cell Carcinoma Is Associated with Mutations in Key DNA Repair, Epigenetic and Apoptosis Pathways: A Case-Based Study Using Targeted Massively Parallel Sequencing
Author(s) -
Christian Graves,
Ashley Jones,
Justin S. Reynolds,
Jeremy Stuart,
Lucia Pirisi,
Peter Botrous,
James W. Wells
Publication year - 2014
Publication title -
neuroendocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.493
H-Index - 101
eISSN - 1423-0194
pISSN - 0028-3835
DOI - 10.1159/000370310
Subject(s) - biology , cancer research , massive parallel sequencing , merkel cell carcinoma , synaptophysin , dna damage , epigenetics , carcinoma , genetics , dna sequencing , gene , immunology , dna , immunohistochemistry
Merkel cell carcinoma (MCC) is a rare neuroendocrine carcinoma with a poorly understood molecular etiology. We implemented a comprehensive deep sequencing approach to identify mutations in the tumor DNA from a cohort of patients treated at our institution over the past 15 years. Our results indicate mutations that may constitute therapeutic targets in MCC.