Lan Zheng , Hui Chen , Jianping Zhao , Sinchita Roy-Chowdhuri , Ashish M. Kamat , Omar Alhalabi , Jianjun Gao , Arlene Siefker-Radtke , Donna E. Hansel , Bogdan Czerniak , Charles C. Guo
{"title":"膀胱浆细胞性尿路上皮癌--52 个病例的临床病理和分子分析","authors":"Lan Zheng , Hui Chen , Jianping Zhao , Sinchita Roy-Chowdhuri , Ashish M. Kamat , Omar Alhalabi , Jianjun Gao , Arlene Siefker-Radtke , Donna E. Hansel , Bogdan Czerniak , Charles C. Guo","doi":"10.1016/j.humpath.2024.04.012","DOIUrl":null,"url":null,"abstract":"<div><p>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 <em>TP53</em> (n = 30), followed by <em>TERT</em> (n = 20), and <em>CDH1</em> (n = 18). Copy number analysis was performed in 34 patients, and 13 of them showed copy number variations. Expression of <em>HER2</em> was analyzed in 18 patients by immunohistochemistry, and 3 of them showed <em>HER2</em> 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 (<em>mTOR</em>) pathway, including <em>PICK3CA</em> and <em>PIK3R1</em> 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 <em>mTOR</em> pathway are associated with poor outcome in a subset of patients with plasmacytoid UC.</p></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":null,"pages":null},"PeriodicalIF":2.7000,"publicationDate":"2024-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Plasmacytoid urothelial carcinoma of the urinary bladder–A clinicopathological and molecular analysis of 52 cases\",\"authors\":\"Lan Zheng , Hui Chen , Jianping Zhao , Sinchita Roy-Chowdhuri , Ashish M. Kamat , Omar Alhalabi , Jianjun Gao , Arlene Siefker-Radtke , Donna E. Hansel , Bogdan Czerniak , Charles C. Guo\",\"doi\":\"10.1016/j.humpath.2024.04.012\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>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 <em>TP53</em> (n = 30), followed by <em>TERT</em> (n = 20), and <em>CDH1</em> (n = 18). Copy number analysis was performed in 34 patients, and 13 of them showed copy number variations. Expression of <em>HER2</em> was analyzed in 18 patients by immunohistochemistry, and 3 of them showed <em>HER2</em> 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 (<em>mTOR</em>) pathway, including <em>PICK3CA</em> and <em>PIK3R1</em> 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 <em>mTOR</em> pathway are associated with poor outcome in a subset of patients with plasmacytoid UC.</p></div>\",\"PeriodicalId\":13062,\"journal\":{\"name\":\"Human pathology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2024-04-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Human pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0046817724000649\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human pathology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0046817724000649","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}
Plasmacytoid urothelial carcinoma of the urinary bladder–A clinicopathological and molecular analysis of 52 cases
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.
期刊介绍:
Human Pathology is designed to bring information of clinicopathologic significance to human disease to the laboratory and clinical physician. It presents information drawn from morphologic and clinical laboratory studies with direct relevance to the understanding of human diseases. Papers published concern morphologic and clinicopathologic observations, reviews of diseases, analyses of problems in pathology, significant collections of case material and advances in concepts or techniques of value in the analysis and diagnosis of disease. Theoretical and experimental pathology and molecular biology pertinent to human disease are included. This critical journal is well illustrated with exceptional reproductions of photomicrographs and microscopic anatomy.