Distinct Gene Mutations Are Associated With Clinicopathologic Features in Urachal Carcinoma.

ABSTRACT:

Objectives

To investigate the gene mutational profile of urachal carcinoma in correlation with its clinicopathologic features.

Methods

We analyzed genetic mutations in 30 cases of urachal carcinoma by next-generation sequencing (NGS) test. Histologic slides and clinical data were reviewed.

Results

The patients included 21 men and 9 women, with a mean age of 53 years (range, 24-75 years). The urachal carcinomas included mucinous (11), enteric (10), signet ring cell (8), and high-grade neuroendocrine (1) subtypes. Targeted NGS analysis demonstrated genetic mutations in all the urachal tumors (mean, 2; range, 1-4). TP53 was the most mutated gene (25), followed by KRAS (9) and GNAS (8) genes. TP53 mutations were more common in the signet ring cell subtype (7/8), and GNAS

SUBMITTER: Zaleski MP 

PROVIDER: S-EPMC9350833 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature