PathologyPub Date : 2025-02-01DOI: 10.1016/j.pathol.2024.06.012
Leyuan Yang , Yan Liu , Ruiping Guo , Juan Du , Lingchao Liu , Xiaolong Liu , Jianfang Zhao , Fang Shi , Xin Zhang , Jing Su
{"title":"CDK4 gene copy number increase and concurrent genetic changes in acral melanoma of a Chinese cohort","authors":"Leyuan Yang , Yan Liu , Ruiping Guo , Juan Du , Lingchao Liu , Xiaolong Liu , Jianfang Zhao , Fang Shi , Xin Zhang , Jing Su","doi":"10.1016/j.pathol.2024.06.012","DOIUrl":"10.1016/j.pathol.2024.06.012","url":null,"abstract":"<div><div>Acral melanoma (AM) is the most common subtype of melanoma in the Asian population. Abnormalities in the p16-cyclin D1-CDK4 signalling pathway play a crucial role in the development and progression of AM. However, the <em>CDK4</em> copy number variations (CNVs) in AM are under-reported. In this study, we investigated <em>CDK4</em> gene copy number and concurrent molecular changes in a Chinese cohort with AM, to explore <em>CDK4</em> CNVs and their significance in AM. We examined <em>CDK4</em> CNVs with fluorescence <em>in situ</em> hybridisation (FISH) in 31 patients with AM. Six patients with <em>CDK4</em> high-level copy number increase were examined by next-generation sequencing to detect concurrent molecular changes. Using FISH, 12 (12/31, 38.7%) cases showed <em>CDK4</em> copy number increase, with six (6/31, 19.4%) low-level copy number increase and six (6/31, 19.4%) high-level copy number increase. Five of six <em>CDK4</em> low-level copy number increase cases were accompanied by polysomy of chromosome 12, while one case was not. Two of six <em>CDK4</em> high-level copy number increase cases were accompanied by polysomy of chromosome 12, while four cases were not. <em>CDK4</em> copy number increase was significantly correlated with younger patient age. In six <em>CDK4</em> high-level copy number increase cases, one case was found to be accompanied by <em>NRAS</em> mutation, one case was accompanied by <em>HER2</em> mutation, one case was accompanied by <em>BCL2L11</em> mutation and one case was accompanied by <em>BRAF</em>, <em>HER2</em> and <em>BCL2L11</em> mutations. Our study confirmed the presence of <em>CDK4</em> copy number increase in AM cases. Detecting <em>CDK4</em> copy number increase by FISH can be reliable in the diagnosis of AM. Some <em>CDK4</em> copy number increases are the results of polysomy of chromosome 12. <em>CDK4</em> high-level copy number increase coexists with other pathogenic mutations in AM. <em>CDK4</em> appears to be a promising target for AM treatment and is expected to be combined with other targeted therapies.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 1","pages":"Pages 34-39"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142546735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PathologyPub Date : 2025-02-01DOI: 10.1016/j.pathol.2024.12.027
Matthew Ruhl
{"title":"Hyperhomocysteinaemia and the hurting hip","authors":"Matthew Ruhl","doi":"10.1016/j.pathol.2024.12.027","DOIUrl":"10.1016/j.pathol.2024.12.027","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S6"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143093018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PathologyPub Date : 2025-02-01DOI: 10.1016/j.pathol.2024.12.089
Bruce Bennetts
{"title":"Therapy ready and information for life – the TRAIL study","authors":"Bruce Bennetts","doi":"10.1016/j.pathol.2024.12.089","DOIUrl":"10.1016/j.pathol.2024.12.089","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S17"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143097352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PathologyPub Date : 2025-02-01DOI: 10.1016/j.pathol.2024.12.017
Elizabeth Demicco
{"title":"Molecular testing in soft tissue tumours: the when, why, and how","authors":"Elizabeth Demicco","doi":"10.1016/j.pathol.2024.12.017","DOIUrl":"10.1016/j.pathol.2024.12.017","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S4"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143097774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PathologyPub Date : 2025-02-01DOI: 10.1016/j.pathol.2024.12.007
Rose-Lynn McCarthy , Christina Brown , Sandra O’Toole , Timothy Fielder , Sunaina Anand , Sanjay Warrier , Wendy A. Cooper
{"title":"Florid xanthogranulomatous reaction to breast implants: an unusual presentation of Erdheim-Chester disease","authors":"Rose-Lynn McCarthy , Christina Brown , Sandra O’Toole , Timothy Fielder , Sunaina Anand , Sanjay Warrier , Wendy A. Cooper","doi":"10.1016/j.pathol.2024.12.007","DOIUrl":"10.1016/j.pathol.2024.12.007","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S2"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143098026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PathologyPub Date : 2025-02-01DOI: 10.1016/j.pathol.2024.12.009
Lavisha S. Punjabi , Clement Chun-Ho Wu , Samuel Lim Jun Ming , Albert Low Su Chong , Tony Lim Kiat Hon
{"title":"A STAT pancreatic mass aspirate","authors":"Lavisha S. Punjabi , Clement Chun-Ho Wu , Samuel Lim Jun Ming , Albert Low Su Chong , Tony Lim Kiat Hon","doi":"10.1016/j.pathol.2024.12.009","DOIUrl":"10.1016/j.pathol.2024.12.009","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Pages S2-S3"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143098028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PathologyPub Date : 2025-02-01DOI: 10.1016/j.pathol.2024.12.098
Jon Emery
{"title":"Polygenic risk scores for cancer screening","authors":"Jon Emery","doi":"10.1016/j.pathol.2024.12.098","DOIUrl":"10.1016/j.pathol.2024.12.098","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S19"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143098388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}