Somatic Mutations of Thymic Epithelial Tumors Identified in the Prospective THYMOGENE Trial.

ABSTRACT:

Background

The molecular landscape of thymic epithelial tumors has been partially elucidated. GTF2I mutation drives the pathogenesis in approximately 50% of tumors; however, the key molecular aberrations in the other cases remain unclear.

Methods

We designed a panel including the most frequently mutated genes in thymic epithelial tumors and sequenced tumor and normal DNA from 70 patients prospectively accrued at a single institution in the Thymogene trial. Moreover, 19 neoplastic samples were dissociated to isolate tumor cells using flow cytometry.

Results

GTF2I mutations were the most common, being present in 41% of patients. GTF2I mutations were prevalent in type A and AB thymomas, in Stage I-II tumors, and in patients without myasthenia gravis. The unique pattern o

SUBMITTER: Pardini E 

PROVIDER: S-EPMC12709650 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature