The online version of this article (doi:10.1186/s12885-017-3233-5) contains supplementary material, which is available to authorized users.
Distinct characteristic features categorize Merkel cell carcinoma (MCC) into two subgroups according to the Merkel cell polyomavirus infection. Many mutational studies on MCC have been carried out in recent years without identifying a prominent driver mutation. However, there is paucity reporting the expression of cancer genes at the RNA level in MCC tumors. In this study, we studied the RNA expression profiles of 26 MCC tumors, with a goal to identify prospective molecular targets that could improve the treatment strategies of MCC.
RNA expression of 50 cancer-related genes in 26 MCC tumors was analyzed by targeted amplicon based next-generation sequencing using the Ion Torrent technology and the expression compared with that of normal, non-cancerous skin samples. Sequencing data were processed using Torrent Suite™ Software. Expression profiles of MCV-negative and MCV-positive tumors were compared. Fluorescence in situ hybridization was performed to study ALK rearrangements and immunohistochemistry to study ALK expression in tumor tissue.
ALK, CDKN2A, EZH2 and ERBB4 were overexpressed, and EGFR, ERBB2, PDGFRA and FGFR1 were underexpressed in MCC tumors compared to normal skin. In the MCV-negative tumors, MET, NOTCH1, FGFR3, and SMO were overexpressed and JAK3 and NPM1 were under-expressed compared to the MCV-positive tumors.
High expression of ALK, CDKN2A and EZH2 was recorded in MCC tumors. No ALK fusion was seen by FISH analysis. Overexpression of EZH2 suggests its potential as a drug target in MCC.
Additional file 1: Table S1. Ion AmpliSeq™ RNA Cancer Panel target genes. The table presents the 50 genes that were investigated in this study. (DOCX 12 kb)12885_2017_3233_MOESM1_ESM.docx
Additional file 2: Table S2. The normalized RNA expression data. The table presents the normalized RNA expression data recorded in this study. (XLSX 30 kb)12885_2017_3233_MOESM2_ESM.xlsx
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- Aberrant expression of ALK and EZH2 in Merkel cell carcinoma
Virinder Kaur Sarhadi
- BioMed Central
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