Introduction: Up to 60% of pheochromocytoma (PCC) and paraganglioma (PGL) are associated with mutations in established PCC and PGL susceptibility loci. A majority of unexplained cases are characterized by an increased activity of the RAS/RAF/ERK signalling pathway. Mutations in RAS subtypes H, K and N are common in human cancers, however, previous studies have been inconsistent regarding the mutational status of RAS in PCC and PGL.
Materials and methods: Four benign and sporadic PCC and PGL tumors were subjected to whole exome sequencing using the Illumina HiSeq Platform. Sequences were processed by CLC genomics 4.9 bioinformatics software and the acquired list of genetic variants was filtered against the Catalogue of Somatic Mutations in Cancer (COSMIC) database. Findings were validated in an additional 78 PCC and PGL tumor lesions that were screened for mutations in SDHB, SDHC, SDHD, SDHAF2, VHL, RET, TMEM127 and MAX.
Conference: 10th Annual ENETS Conference 2013 (2013)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Joakim Crona
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