Faculty, Staff and Student Publications

Language

English

Publication Date

6-1-2024

Journal

Human Pathology

DOI

10.1016/j.humpath.2024.04.012

PMID

38679207

PMCID

PMC11755388

PubMedCentral® Posted Date

1-23-2025

PubMedCentral® Full Text Version

Author MSS

Abstract

Plasmacytoid urothelial carcinoma (UC) is a rare histologic subtype of bladder cancer that is associated with an aggressive clinical behavior. We analyzed the clinicopathologic and molecular features of plasmacytoid UC in 52 patients from a single institute. The patients included 44 men and 8 women, with a mean age of 64 years (range, 41-91 years). All bladder cancers were high-grade UC, and plasmacytoid component accounted for a mean of 47% of bladder tumors (range, 5-100%). Distinct gene mutations were found in most plasmacytoid UCs (n = 49); the most common mutations were TP53 (n = 30), followed by TERT (n = 20), and CDH1 (n = 18). Copy number analysis was performed in 34 patients, and 13 of them showed copy number variations. Expression of HER2 was analyzed in 18 patients by immunohistochemistry, and 3 of them showed HER2 overexpression, which was confirmed by fluorescence in situ hybridization analysis. Thirty-two patients died of disease in a median of 15 months (range, 1-45 months). No individual gene mutations were significantly associated with clinical outcome, but mutations in the mammalian target of rapamycin (mTOR) pathway, including PICK3CA and PIK3R1 mutations, were associated with a significantly shorter survival duration (p <  0.05). Plasmacytoid UC is an aggressive histologic subtype that demonstrates frequent somatic gene mutations and CNVs, which may underlie its oncogenesis and progression. Gene mutations of the mTOR pathway are associated with poor outcome in a subset of patients with plasmacytoid UC.

Keywords

Humans, Male, Aged, Middle Aged, Female, Urinary Bladder Neoplasms, Adult, Aged, 80 and over, Mutation, Biomarkers, Tumor, DNA Copy Number Variations, DNA Mutational Analysis, Immunohistochemistry, TOR Serine-Threonine Kinases, Urothelium, In Situ Hybridization, Fluorescence, Tumor Suppressor Protein p53, Telomerase, Carcinoma, Transitional Cell, Erb-b2 Receptor Tyrosine Kinases, Genetic Predisposition to Disease, Plasmacytoid urothelial carcinoma, bladder cancer, next-generation sequencing, gene mutations, mTOR

Published Open-Access

yes

Download

Share

COinS
 
 

To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.