Comprehensive genetic study of malignant middle ear paraganglioma

Whole exome sequencing data for the report of a case of malignant MEPGL accompanied by the comprehensive genetic analysis of primary tumor and metastasis. Based on this data, germline pathogenic mutation p.R230H in the SDHB gene was found in a patient. Analysis of somatic mutation spectra revealed five novel variants in different genes, including a potentially deleterious variant in UNC13C that is common for tumor and metastasis. Identified somatic variants clustered in SBS1 and SBS5 mutational signatures.