Pathology最新文献

{"title":"Further case and literature review of the novel epithelioid vascular bone lesion associated with NFATC1/2 fusions","authors":"Hannah Blaikie , Claudia Di Bella , Lisa Orme , John L. Slavin , Penelope A. McKelvie","doi":"10.1016/j.pathol.2024.11.015","DOIUrl":"10.1016/j.pathol.2024.11.015","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 4","pages":"Pages 517-521"},"PeriodicalIF":3.6,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606144","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":"SS18-SSX and SSX c-terminus antibodies for identification of specific fusion oncoprotein in mesenchymal neoplasms.","authors":"Iva Brčić, Theresa Marie Godschachner, Jasminka Igrec, Susanne Scheipl, Anna Maria Smolle, Andreas Leithner, Joanna Szkandera, Bernadette Liegl-Atzwanger","doi":"10.1016/j.pathol.2024.11.013","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.11.013","url":null,"abstract":"<p><p>Chromosomal rearrangement can be identified by direct methods or by using immunohistochemistry for a component of the fusion oncoprotein as a surrogate marker. Our aim was to gain insights into the staining profile using novel SS18-SSX and SSX c-terminus antibodies in SS18 fusion tumours and to investigate their potential use in soft tissue tumours harbouring SSX fusion partner outside the spectrum of synovial sarcoma. A retrospective analysis of 310 soft tissue sarcomas [via tissue microarray (TMA)] diagnosed at our Institution between 1999 and 2019 was performed. As controls, whole tissue sections from 14 genetically confirmed synovial sarcomas and one EWSR1::SSX2 rearranged sarcoma diagnosed between 2020 and 2023 were included. Two different antibodies for SSX locus were used: SSX c-terminus and SS18-SSX. Twenty-one of 310 (6.8%) and 25 of 310 (8.1%) sarcomas on the TMA showed nuclear staining with SS18-SSX and SSX, respectively. From the 24 synovial sarcomas, 17 (70.8%) stained positive for both antibodies, and in five of these cases, nuclear staining for SSX was weak. In four (16.7%) cases, only SS18-SSX was positive, and in three (12.5%) cases, only SSX staining was found. Furthermore, SSX nuclear expression was only found in four of 62 (6.5%) myxofibrosarcomas. In the control cohort, 11 of 14 synovial sarcomas (78.6%) showed positive staining for both antibodies. The remaining three cases were negative for SS18-SSX, but demonstrated at least focally strong positivity for SSX. The EWSR1::SSX2 rearranged sarcoma showed strong nuclear positivity for SSX. SS18-SSX and SSX c-terminus antibodies are reliable diagnostic markers that can be used as a surrogate marker for identification of a specific fusion. The SS18-SSX antibody is more specific and shows strong nuclear staining in synovial sarcomas, whereas SSX can present with weak staining and is less specific. However, the latter can be used in soft tissue tumours harbouring SSX fusion partner outside the spectrum of synovial sarcoma.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701008","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":"Can residual proliferative cancer burden predict long-term outcomes following neoadjuvant chemotherapy in breast cancer?","authors":"Imen Zawati, Yousra Troujette, Olfa Adouni, Maroua Manai, Meriem Nouira, Karim Mekki, Mohamed Manai, Khaled Rahal, Amor Gamoudi","doi":"10.1016/j.pathol.2024.11.014","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.11.014","url":null,"abstract":"<p><p>Residual proliferative cancer burden (RPCB) has been suggested as a strong predictor model of long-term outcomes in breast cancer undergoing neoadjuvant chemotherapy (NACT). In our study, we aimed to compare the prognostic value of multiple post-NACT classifications for assessing residual disease. Archival surgical specimens of 97 patients with primary breast cancer who underwent NACT were evaluated for residual cancer burden (RCB). The post-operative Ki-67 proliferation index was quantified using immunohistochemistry on post-treatment surgical excision specimens with residual disease. Then, we calculated the RPCB scores by combining the anatomical RCB index with the biological post-therapeutic Ki-67 using the Cox proportional hazard model for each parameter. Using the Kaplan-Meier method, RCBIII showed an unfavourable prognosis with worse relapse-free survival (RFS) (estimated 5-year RFS rate of 38%) than RCBI, which displayed a similarly good prognosis as pathological complete response (equal to RCB0) (estimated 5-year RFS rates of 80% and 100%, respectively) (p=0.012). The RCBII showed an intermediate prognosis (estimated 5-year RFS rate of 79%). A higher post-NACT Ki-67 (greater than cut-off 20%) had a negative impact on the overall survival and RFS (p<0.0001 for both) using the Kaplan-Meier method. In multivariate analysis, the histological residual tumour size, number of affected lymph nodes, and RCB index remained independent prognostic factors for RFS. In addition, RPCBIII showed the worst prognosis (with an estimated 5-year RFS rate of 38%) compared to RPCBI (estimated 5-year RFS rate of 83%) (p=0.039) by the Kaplan-Meier method. The area under the curve of the RCB index was 0.82 compared to 0.62 for the RPCB model in terms of RFS prediction. Our study highlighted the potential stratification of RCBII cases based on the RPCB classification. Further studies with larger cohorts will be needed to validate whether the RCPB adds value to residual disease assessment.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143693090","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":"Paroxysmal cold haemoglobinuria with peculiar peripheral blood film finding","authors":"Shatha Sharaf ,&nbsp;Nahlah AlGhasham","doi":"10.1016/j.pathol.2024.12.634","DOIUrl":"10.1016/j.pathol.2024.12.634","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 4","pages":"Pages 527-529"},"PeriodicalIF":3.6,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639758","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":"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 ,&nbsp;Michael R. Tallack ,&nbsp;Courtney Tate ,&nbsp;Stewart Hunt ,&nbsp;Hnin Aung ,&nbsp;Andrea Henden ,&nbsp;Lee Jones ,&nbsp;Louise Seymour","doi":"10.1016/j.pathol.2024.11.011","DOIUrl":"10.1016/j.pathol.2024.11.011","url":null,"abstract":"<div><div><em>TP53</em> 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 <em>TP53</em> wild-type (<em>n</em>=50) and <em>TP53</em> mutant (<em>n</em>=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 <em>TP53</em> 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 (<em>p</em>=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 <em>TP53</em> mutation. Issues remain in identifying truncating and some splicing mutations.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 4","pages":"Pages 489-494"},"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 ,&nbsp;Johnny Y.Y. Ho ,&nbsp;Conrad H.C. Lee ,&nbsp;Joanna K.M. Ng ,&nbsp;Jacqueline H.S. Lee ,&nbsp;Carol S.Y. Yeung ,&nbsp;Philip P.C. Ip","doi":"10.1016/j.pathol.2024.11.012","DOIUrl":"10.1016/j.pathol.2024.11.012","url":null,"abstract":"<div><div>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 (<em>p</em>=0.001) (all endometrial tissue) and 0.761 (<em>p</em>=0.001) (only lesional tissue), (<em>p</em>=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&amp;E diagnosis (<em>p</em>=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 &gt;7:3 is highly indicative of EEC.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 4","pages":"Pages 455-460"},"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":"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}