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- Title
Distinct Gene Mutations Are Associated With Clinicopathologic Features in Urachal Carcinoma.
- Authors
Zaleski, Michael P; Chen, Hui; Roy-Chowdhuri, Sinchita; Patel, Keyur P; Luthra, Rajyalakshmi; Routbort, Mark J; Kamat, Ashish M; Gao, Jianjun; Siefker-Radtke, Arlene; Czerniak, Bogdan; Guo, Charles C
- Abstract
<bold>Objectives: </bold>To investigate the gene mutational profile of urachal carcinoma in correlation with its clinicopathologic features.<bold>Methods: </bold>We analyzed genetic mutations in 30 cases of urachal carcinoma by next-generation sequencing (NGS) test. Histologic slides and clinical data were reviewed.<bold>Results: </bold>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).<bold>Conclusions: </bold>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.
- Publication
American Journal of Clinical Pathology, 2022, Vol 158, Issue 2, p263
- ISSN
0002-9173
- Publication type
journal article
- DOI
10.1093/ajcp/aqac039