Identification and description of the genes with a high mutation frequency in vagal paragangliomas

Vladislav Pavlov¹, Anastasiya Snezhkina², George Krasnov³, Dmitry Kalinin⁴, Alexander Golovyuk⁵, Anna Kudryavtseva^6
1EIMB RAS, vladislav1pavlov@gmail.com
²EIMB RAS, leftger@rambler.ru
³EIMB RAS, gskrasnov@mail.ru
⁴A.V. Vishnevsky National Medical Research Center of Surgery, dmitry.v.kalinin@gmail.com
⁵A.V. Vishnevsky National Medical Research Center of Surgery, algolovyuk@inbox.ru
⁶EIMB RAS, rhizamoeba@mail.ru

Vagal paragangliomas (VPGLs) are rare neuroendocrine tumors of the head and neck. Germline and somatic mutations in a number of genes are associated with the development of VPGLs. The MutSigCV algorithm was implemented in a search for genes characterized by a high mutation frequency in VPGLs. For this purpose, we used the previously obtained results of the exome sequencing of 8 VPGL samples. Ten genes have been identified (ZNF717, MUC16, PKD1L2, TTN, MUC3A, MUC5AC, HYDIN, SSPO, FLG, OBSCN), that can potentially be involved in the development and progression of VPGLs. The involvement of these genes in the VPGL pathogenesis is shown for the first time.