TY - JOUR
T1 - Distinct Gene Mutations Are Associated With Clinicopathologic Features in Urachal Carcinoma an analysis of 30 cases by next-generation Sequencing
AU - Zaleski, Michael P.
AU - Chen, Hui
AU - Roy-Chowdhuri, Sinchita
AU - Patel, Keyur P.
AU - Luthra, Rajyalakshmi
AU - Routbort, Mark J.
AU - Kamat, Ashish M.
AU - Gao, Jianjun
AU - Siefker-Radtke, Arlene
AU - Czerniak, Bogdan
AU - Guo, Charles C.
N1 - Publisher Copyright:
© the author(s) 2022.
PY - 2022/8/1
Y1 - 2022/8/1
N2 - 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.
AB - 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.
KW - GNAS
KW - KRAS
KW - TP53
KW - Gene mutations
KW - Next-generation sequencing
KW - Urachal carcinoma
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U2 - 10.1093/AJCP/AQAC039
DO - 10.1093/AJCP/AQAC039
M3 - Article
C2 - 35467000
AN - SCOPUS:85135597960
SN - 0002-9173
VL - 158
SP - 263
EP - 269
JO - American journal of clinical pathology
JF - American journal of clinical pathology
IS - 2
ER -