Proto-oncogene mutations in middle ear cholesteatoma contribute to its pathogenesis.

ABSTRACT:

Background

Chronic inflammation causes bone destruction in middle ear cholesteatomas (MECs). However, the causes of their neoplastic features remain unknown. The present study demonstrated for the first time that neoplastic features of MEC are based on proto-oncogene mutations.

Results

DNA was extracted from MEC and blood samples of five patients to detect somatic mutations using depth-depth exome sequencing. Exons with somatic variants were analyzed using an additional 17 MEC/blood test pairs. Variants detected in MECs but not in blood were considered pathogenic variant candidates. We analyzed the correlation between proto-oncogene (NOTCH1 and MYC) variants and the presence of bone destruction and granulation tissue formation. MYC and NOTCH1 variants were detected in two an

SUBMITTER: Satoh C 

PROVIDER: S-EPMC10647096 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature