Pathology最新文献

{"title":"Screening for multiple myeloma has low yield as part of a secondary osteoporosis screen","authors":"Joanna Y. Gong ,&nbsp;Sandra Iuliano ,&nbsp;Aye N. Tint ,&nbsp;Jas-mine Seah ,&nbsp;MaiAnh Nguyen ,&nbsp;Cherie Chiang","doi":"10.1016/j.pathol.2025.11.004","DOIUrl":"10.1016/j.pathol.2025.11.004","url":null,"abstract":"<div><div>Multiple myeloma (MM) is a secondary cause of osteoporosis, and universal screening is recommended post fragility fracture. However, the longitudinal yield of this approach has not been evaluated. We aimed to assess the yield of the secondary osteoporosis screen in the Austin Health Fracture Liaison Service (FLS) database between 1 June 2009 and 1 June 2014. Patient demographics, fragility fracture type, bone density, and pathology results, including serum protein electrophoresis (SPE), urine Bence Jones protein (BJP), and serum free light chains, were extracted. SPE results were classified as normal, inflammatory, or monoclonal [including monoclonal gammopathy of undetermined significance (MGUS) or MM]. Over 5 years, 1026 initial SPE results were available for 1592 confirmed fragility fractures in 1589 patients who accepted the FLS invitation. The median age was 72 years (IQR 62–81), 26% were men, and 24% sustained a hip or pelvic fracture. Screening for MM was performed a median of 7 days (IQR 3–35) post fracture and revealed 796 (78%) normal, 179 (17%) inflammatory, and 51 (5%) monoclonal results. Repeat SPE for 121 patients with initial inflammatory SPE results yielded an additional six monoclonal results. The monoclonal cohort was followed for a median of 4.4 years (IQR 2.4–7.5); this yielded 4.2% MGUS and 0.3% MM diagnoses. The total cost of universal MM screening was AUD $88,638. The yield of myeloma screening was low and associated with a significant cost. All new MM cases were already flagged by other routine pathology tests.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 2","pages":"Pages 214-219"},"PeriodicalIF":3.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146041178","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":"Stains of evolution: unusual mismatch repair immunohistochemistry patterns reveal subclonal dynamics in colorectal cancer","authors":"Fang Shen,&nbsp;Pedja Nikolic","doi":"10.1016/j.pathol.2026.01.012","DOIUrl":"10.1016/j.pathol.2026.01.012","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 ","pages":"Page S3"},"PeriodicalIF":3.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147395265","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":"Reflex FISH on FFPE tissue for diagnosis of triploidy in villous dysmorphism in first trimester products of conception","authors":"Aayushi Mathur,&nbsp;Karen Gough,&nbsp;Thomas Orschulok,&nbsp;Rohan Lourie","doi":"10.1016/j.pathol.2026.01.087","DOIUrl":"10.1016/j.pathol.2026.01.087","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 ","pages":"Page S19"},"PeriodicalIF":3.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147395424","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":"Mucoepidermoid carcinoma with unusual histology and immunophenotype: a case report","authors":"Woon Yee Chew,&nbsp;Alexander Hin Ning Tang,&nbsp;Manish Mahadeorao Bundele","doi":"10.1016/j.pathol.2026.01.038","DOIUrl":"10.1016/j.pathol.2026.01.038","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 ","pages":"Page S8"},"PeriodicalIF":3.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147410039","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":"Clear cell, clear challenge: distinguishing the rare from the mimics","authors":"Camryn McGrath ,&nbsp;Stefanie Aranza ,&nbsp;Simon Nazaretian","doi":"10.1016/j.pathol.2026.01.091","DOIUrl":"10.1016/j.pathol.2026.01.091","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 ","pages":"Page S20"},"PeriodicalIF":3.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147411246","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":"Validation and optimisation of a commercial cell-based assay for detection of nodo-paranodal antibodies","authors":"Julian Leto ,&nbsp;Judith Spies ,&nbsp;Linda Tran ,&nbsp;Irene Luo ,&nbsp;Alex Stoyanov ,&nbsp;Peter Bradhurst ,&nbsp;Nicolás Urriola","doi":"10.1016/j.pathol.2025.06.009","DOIUrl":"10.1016/j.pathol.2025.06.009","url":null,"abstract":"<div><div>A minority of patients fulfilling diagnostic criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) have been found to have autoantibodies against components of nodal and paranodal structures in peripheral nerves. These autoantibodies may confer distinct clinical features, including a lower likelihood of response to treatment with intravenous immunoglobulin (IVIg). There are currently limited options available for the detection of these autoantibodies in the diagnostic setting. We tested serum samples from 30 patients with CIDP, 40 disease controls [20 with myasthenia gravis and 20 with systemic lupus erythematosus (SLE)] and 52 healthy controls for the presence of antibodies against neurofascin 155 (NF155), neurofascin 186 (NF186), contactin-1 (CNTN1) and the contactin-1/contactin-associated protein 1 (CNTN1/CASPR1) complex using a commercial transfected HEK293 cell-based indirect immunofluorescence immunoassay (EUROImmun). We detected nodo-paranodal antibodies in six of 30 CIDP patients, including five who had previously tested positive for nodo-paranodal antibodies using enzyme-linked immunosorbent assay (ELISA). There was one positive test for anti-CNTN1 in a disease control with SLE and membranous glomerulonephritis, with no positive tests in healthy controls. We modified the manufacturer's staining protocol by using biotinylated anti-IgG and streptavidin-FITC labelling, which increased the analytical sensitivity of the assay. Our modified assay retained its robustness in the presence of interfering substances (haemolysed, lipaemic and icteric samples) and serum with high non-specific background immunofluorescent staining. We successfully modified and validated a commercial indirect immunofluorescence immunoassay for the qualitative detection of antibodies against NF155, NF186, CNTN1 and CNTN1/CASPR1. This could lead to more rapid diagnosis of patients with these autoantibodies, avoiding costly and ineffective treatments.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 1","pages":"Pages 67-75"},"PeriodicalIF":3.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145182251","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":"Perinatal autopsy reporting practices in Australian stillbirths: a quality review","authors":"Tania Marsden ,&nbsp;Teck Yee Khong ,&nbsp;Jane E. Dahlstrom ,&nbsp;Frances M. Boyle ,&nbsp;Mu Cheng ,&nbsp;Yin Ping Wong ,&nbsp;Stacey Prystupa ,&nbsp;Gretchen Pomare ,&nbsp;Joanna Perry-Keene ,&nbsp;Vicki Flenady ,&nbsp;Jessica Sexton","doi":"10.1016/j.pathol.2025.06.010","DOIUrl":"10.1016/j.pathol.2025.06.010","url":null,"abstract":"<div><div>Stillbirth continues to pose a significant public health challenge. Determining the cause of death is crucial for both prevention and providing closure to families, yet many stillbirths are not adequately investigated. Autopsy and placental assessments are recognised as the gold standard for stillbirth investigation. The utility of these procedures can vary based on the quality of the examination. The aim of this study was to determine the quality of autopsy reporting in Australia in the context of stillbirth. A total of 284 stillbirths with accompanying autopsy reports from 18 maternity hospitals across Australia between 2013 and 2018 were included. Autopsy and placental pathology reports were scored against accepted standards using a modified Vujanic–Khong tool to produce an autopsy quality score (AQS), by a double-blinded panel of assessors to the cause of death. Outcome measures were the number of autopsy reports achieving the score range, with a minimal acceptable score (MAS) of 75%. Reports were assessed based on the type of investigation (full or external), presenting clinical scenario, maceration status, and gestational age. A secondary outcome was to review the format of the autopsy reports. In total, 248 (87%) autopsy reports achieved a MAS, with 166 (58%) of reports achieving 90% of an AQS; 37 (13%) cases did not achieve a MAS, including 14 external examinations, one partial autopsy examination and 23 full autopsy examinations. Full autopsy achieved a higher score than external examinations only. External autopsy examinations were more likely not to have requested medical imaging (59%), cytogenetics (72%), or microbiology (of the placenta, 72%) when thought to be clinically indicated. There was no difference in the MAS according to clinical scenario, gestational age or degree of maceration. There was no consistent autopsy report format in this study. The overall quality of autopsy reports across Australia is high, providing confidence in the use of these reports for classifying a cause of stillbirth. Development of a structured protocol for autopsy reporting to ensure all investigations deemed clinically appropriate are performed and formatting is harmonised across the country is recommended.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 1","pages":"Pages 34-40"},"PeriodicalIF":3.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145275407","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":"Genomic features of Streptococcus pneumoniae associated with recurrent invasive pneumococcal disease","authors":"Sarah A.M. Smith ,&nbsp;Rebecca J. Rockett ,&nbsp;Shahin Oftadeh ,&nbsp;Vitali Sintchenko","doi":"10.1016/j.pathol.2025.08.012","DOIUrl":"10.1016/j.pathol.2025.08.012","url":null,"abstract":"<div><div>Invasive pneumococcal disease (IPD) is a major cause of morbidity and mortality worldwide, particularly in children and the elderly. Recurrent IPD (rIPD) is more challenging to manage and differentiate between re-infection with a new strain of <em>Streptococcus pneumoniae,</em> and relapse associated with host immunodeficiency ​or unrecognised antimicrobial resistance (AMR). This study examined genomic features of <em>S. pneumoniae</em> associated with rIPD. A set of 140 <em>S. pneumoniae</em> isolates from 67 patients with rIPD was investigated. All isolates were subjected to Quellung serotyping and whole-genome sequencing to determine episodes of rIPD relapse and reinfection and to identify AMR genes. In the first and second episodes, 33 (49%) of cases of rIPD were associated with different serotypes of <em>S. pneumoniae</em> and were classified as reinfections. In 34 cases, both presentations were caused by <em>S. pneumoniae</em> of the same serotype. Genomic comparison of pneumococci associated with these rIPD episodes indicated that a further 7% (5/67) were reinfections and the rest (29 cases of rIPD; 43%) were cases of relapse caused by genomically closely related strains. rIPD cases with over 6000 mutations between core genome in <em>S. pneumoniae</em> were classified as reinfection, while endogenous relapse cases were characterised by fewer than 34 mutations between the core genomes of <em>S. pneumoniae</em>. rIPD recurrence within a year was more likely to be a relapse than a reinfection. Relapse cases were more likely to have AMR markers present in the initial episode, with no significant evidence of AMR acquisition between episodes. These findings suggest a role for <em>S. pneumoniae</em> genome sequence analysis in differentiating endogenous relapse from exogenous reinfection in rIPD to inform clinical management and public health follow-up.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 1","pages":"Pages 89-96"},"PeriodicalIF":3.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145637393","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":"Granular cell tumour of the clitoris: an unusual location","authors":"Susan Healsmith,&nbsp;Leon Foster,&nbsp;Elizabeth Paver","doi":"10.1016/j.pathol.2026.01.062","DOIUrl":"10.1016/j.pathol.2026.01.062","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 ","pages":"Page S13"},"PeriodicalIF":3.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147394656","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":"POU2F3-associated large cell neuroendocrine carcinoma of the lung: from biopsy, to resection, to diagnosis","authors":"Bridget Hilliard,&nbsp;Helen Harris","doi":"10.1016/j.pathol.2026.01.064","DOIUrl":"10.1016/j.pathol.2026.01.064","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 ","pages":"Page S14"},"PeriodicalIF":3.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147394657","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}