Vol 53(2019) N 4 p. 547-559; DOI 10.1134/S0026893319040137
A.V. Snezhkina1*, E.N. Lukyanova1, M.S. Fedorova1, D.V. Kalinin2, N.V. Melnikova1, O.A. Stepanov1,3, M.V. Kiseleva3, A.D. Kaprin3, E.A. Pudova1, A.V. Kudryavtseva1
Novel Genes Associated with the Development of Carotid Paragangliomas1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991 Russia
2Vishnevsky Institute of Surgery, Ministry of Health of the Russian Federation, Moscow, 117997 Russia
3National Medical Research Radiological Center, Ministry of Health of the Russian Federation, Moscow, 125284 Russia
Received - 2018-10-11; Revised - 2019-02-19; Accepted - 2019-02-19
Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors of the head and neck. "Germline" and somatic mutations in a number of genes were shown to be associated with the development of CPGLs; however, molecular mechanisms of the tumor pathogenesis have not been fully understood. In the work, we have used whole exome sequencing data of 52 CPGLs obtained earlier. Using MutSigCV, the search for genes with high mutation rate was performed. Thirty four genes (MADCAM1, SARM1, ZFPM1, CTDSP2, DSPP, POTED, ANP32B, FRG2B, BAGE3, CCDC89, ACOT2, KRTAP10-1, ATXN1, GXYLT1, MUC2, AQP7, TMPRSS13, KRTAP4-3, PRR21, PSPH, PLBD1, ZNF595, IGSF3, PRR16, FAM157A, KCNJ12, HYDIN, IGFBP2, KIAA1671, DISC1, MUC6, XKR3, HRNR, and MUC4) potentially associated with the CPGL initiation and progression were revealed. The involvement of these genes in the pathogenesis of CPGLs was first shown, and possible mechanisms of their participation in that were discussed.
carotid paragangliomas, tumor-associated genes, exome, high-throughput sequencing