Pathology最新文献

{"title":"p53 immunohistochemistry staining is a rapid screening method for TP53 mutation in myeloid malignancies suitable for integration into routine diagnostic laboratory practice.","authors":"Ricky Nelles, Michael R Tallack, Courtney Tate, Stewart Hunt, Hnin Aung, Andrea Henden, Lee Jones, Louise Seymour","doi":"10.1016/j.pathol.2024.11.011","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.11.011","url":null,"abstract":"<p><p>TP53 mutations are a recognised poor prognostic marker across myeloid malignancies associated with inferior overall survival. Immunohistochemistry (IHC) for p53 represents a promising adjunctive test with rapid turn-around; however, controversy exists around its utility and optimal positive staining threshold. The aims of this study were to determine the diagnostic testing characteristics and optimal threshold of positive staining for p53 IHC in comparison to next-generation sequencing (NGS) results across myeloid malignancies and compare haematopathologist review to digital analysis. A total of 117 bone marrow samples, including TP53 wild-type (n=50) and TP53 mutant (n=67) based on NGS results, were independently assessed by two blinded haematopathologists and analysed using image analysis software with reliability assessment. A receiver operating characteristic curve was used to determine the optimal cut-off for predicting TP53 mutation. There was high reliability between reviewers [intraclass correlation (ICC) 0.84; confidence interval (CI) 0.783-0.891] and between average reviewer and analysis software (ICC 0.794; CI 0.715-0.853). The area under the curve was similar (p=0.818) for computer versus average reviewer. The optimal cut-off for reviewer assessment was 2% strong positive staining with adequate sensitivity (70%) and specificity (90%). p53 IHC has adequate test characteristics to be considered as a rapid screen to identify cases of TP53 mutation. Issues remain in identifying truncating and some splicing mutations.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586617","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}

{"title":"Digital image analysis of gland-to-stroma ratio by CD10 objectively differentiates between low-grade endometrioid carcinoma and atypical hyperplasia on endometrial biopsy.","authors":"Joshua J X Li, Johnny Y Y Ho, Conrad H C Lee, Joanna K M Ng, Jacqueline H S Lee, Carol S Y Yeung, Philip P C Ip","doi":"10.1016/j.pathol.2024.11.012","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.11.012","url":null,"abstract":"<p><p>Distinguishing between endometrial atypical hyperplasia/endometrial intraepithelial neoplasia (EAH/EIN) and grade 1 endometrial endometrioid carcinoma (EEC) requires the evaluation of gland-to-stromal ratio, presence of stromal invasion, extent of epithelial proliferation and nuclear alterations. In small biopsies, stromal invasion may not always be sampled, so other features become more important. However, assessing of some of these features may be subjective. Digital analysis improves diagnostic uniformity, and when combined with CD10 immunostain, it can potentially become a useful objective parameter. Endometrial biopsies with a diagnosis of EAH/EIN or EEC matched were retrieved with subsequent hysterectomy for reference diagnosis. CD10 immunohistochemistry was applied to the biopsies, followed by scanning and annotation. Pixel-accurate stromal percentages were deduced from digitised whole-slide images from a test cohort. An optimal stromal percentage cut-off, thus gland-to-stroma ratio, was extrapolated from the receiver operating characteristic curve. A separate cohort was used to validate the diagnostic performance of the determined gland-to-stroma cut-off. Seventy endometrial biopsies were included in the test cohort, comprising 48 grade 1 EECs and 22 EAH/EINs. The mean stromal percentage was 15.69% for EEC and 33.65% for EAH/EIN (all endometrial tissue annotated/analysed) and 14.77% for EEC and 31.88% for EAH/EIN (only lesional tissue annotated/analysed). The corresponding gland-to-stroma ratio was 5:1 for EEC and 2:1 for EAH/EIN. The areas under curve were 0.758 (p=0.001) (all endometrial tissue) and 0.761 (p=0.001) (only lesional tissue), (p=0.001). In the validation cohort, a cut-off of 30% CD10-stained stroma (7:3 gland-to-stroma ratio) was superior in diagnostic performance than the H&E diagnosis (p=0.042). Evaluation of gland-to-stroma ratio using CD10 immunostain and digital image analysis is a robust and objective method for distinguishing between grade 1 EEC and EAH/EIN in small biopsies. A cut-off >7:3 is highly indicative of EEC.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573638","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}

{"title":"Pleural-based primary thoracic Epstein–Barr virus-associated lymphoepithelial carcinoma","authors":"James A. Rickard ,&nbsp;Elena Tarasenko ,&nbsp;Jared Mathai ,&nbsp;Khashayar Asadi ,&nbsp;Sagun Parakh","doi":"10.1016/j.pathol.2024.06.016","DOIUrl":"10.1016/j.pathol.2024.06.016","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 1","pages":"Pages 128-131"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142522557","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}

{"title":"CDK4 gene copy number increase and concurrent genetic changes in acral melanoma of a Chinese cohort","authors":"Leyuan Yang ,&nbsp;Yan Liu ,&nbsp;Ruiping Guo ,&nbsp;Juan Du ,&nbsp;Lingchao Liu ,&nbsp;Xiaolong Liu ,&nbsp;Jianfang Zhao ,&nbsp;Fang Shi ,&nbsp;Xin Zhang ,&nbsp;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}

{"title":"Liver pathology","authors":"Richard Standish","doi":"10.1016/j.pathol.2024.12.014","DOIUrl":"10.1016/j.pathol.2024.12.014","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":"143092111","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}

{"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}

{"title":"Advancing precision diagnosis in haematological malignancies","authors":"Jessica Wright ,&nbsp;Tamaryn J. Knezovitch ,&nbsp;Mark G. Williams ,&nbsp;Ritesh Chatrapati ,&nbsp;Pauline Higgins ,&nbsp;Amanda Goh ,&nbsp;Abhijit Kulkarni ,&nbsp;Edward Chew","doi":"10.1016/j.pathol.2024.12.085","DOIUrl":"10.1016/j.pathol.2024.12.085","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S16"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143096929","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}

{"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}

{"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}

{"title":"Florid xanthogranulomatous reaction to breast implants: an unusual presentation of Erdheim-Chester disease","authors":"Rose-Lynn McCarthy ,&nbsp;Christina Brown ,&nbsp;Sandra O’Toole ,&nbsp;Timothy Fielder ,&nbsp;Sunaina Anand ,&nbsp;Sanjay Warrier ,&nbsp;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}