Somatic mutations of thymic epithelial tumors with myasthenia gravis

ABSTRACT:

Background

Thymic epithelial tumors are rare malignant neoplasms that are frequently associated with paraneoplastic syndromes, especially myasthenia gravis. GTF2I is an oncogene mutated in a subgroup of thymomas that is reputed to drive their growth. However, for GTF2I wild-type tumors, the relevant mutations remain to be identified.

Methods

We performed a meta-analysis and identified 4,208 mutations in 339 patients. We defined a panel of 63 genes frequently mutated in thymic epithelial tumors, which we used to design a custom assay for next-generation sequencing. We sequenced tumor DNA from 67 thymomas of patients with myasthenia gravis who underwent resection in our institution.

Results

Among the 67 thymomas, there were 238 mutations, 83 of which were in coding

SUBMITTER: Pardini E 

PROVIDER: S-EPMC10475716 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature