1. Distinct Gene Mutations Are Associated With Clinicopathologic Features in Urachal Carcinoma.
- Author
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Zaleski MP, Chen H, Roy-Chowdhuri S, Patel KP, Luthra R, Routbort MJ, Kamat AM, Gao J, Siefker-Radtke A, Czerniak B, and Guo CC
- Subjects
- Adult, Aged, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Mutation, Proto-Oncogene Proteins p21(ras) genetics, Carcinoma, Signet Ring Cell genetics, Carcinoma, Signet Ring Cell pathology, Urinary Bladder Neoplasms genetics, Urinary Bladder Neoplasms pathology
- 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 mutations were present only in the mucinous (5/11) and signet ring cell subtypes (3/8) but not in the enteric subtype (0/10). KRAS mutations were significantly associated with cancer stage IV (P = .02) and younger patient age (P = .046). Furthermore, the presence of KRAS mutations in urachal carcinoma portended a poorer overall survival (P = .006)., Conclusions: Urachal carcinoma demonstrates frequent gene mutations that are associated with distinct clinicopathologic features. Gene mutation may underlie the development and progression of this aggressive disease., (© The Author(s) 2022. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2022
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