Pub Date : 2024-11-13DOI: 10.1016/j.pathol.2024.09.007
Andrew McLean-Tooke, Joanne Ong, Alexandra Kwan, Matthew Krummenacher, Christine Bundell
Rapid testing for antineutrophil cytoplasmic antibodies (ANCAs) and glomerular basement membrane (GBM) antibodies may assist in the early diagnosis of small vessel vasculitis. Clinical utility of urgent testing of these antibodies in an Australian context is not known. Our retrospective study examined the urgent test requests for ANCA and/or GBM antibodies performed over a 2-year period. Overall, urgent testing was positive in 28.6% of all requests. When cases of known ANCA-associated vasculitis or GBM disease were excluded, the urgent test positive rate remained high at 23%. The highest rates of new positivity were seen in patients with acute renal impairment and haemoptysis (71%), isolated acute renal impairment (21%) and isolated haemoptysis (18%). Dual positivity with both ANCAs and anti-GBM antibodies occurred in four patients. Our study confirms that clinicians requesting urgent testing are able to identify patients with a high pretest probability for small vessel vasculitis, thus allowing for rapid serological diagnosis.
{"title":"Diagnostic performance of assays for urgent MPO, PR3 and GBM autoantibodies in suspected vasculitis.","authors":"Andrew McLean-Tooke, Joanne Ong, Alexandra Kwan, Matthew Krummenacher, Christine Bundell","doi":"10.1016/j.pathol.2024.09.007","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.09.007","url":null,"abstract":"<p><p>Rapid testing for antineutrophil cytoplasmic antibodies (ANCAs) and glomerular basement membrane (GBM) antibodies may assist in the early diagnosis of small vessel vasculitis. Clinical utility of urgent testing of these antibodies in an Australian context is not known. Our retrospective study examined the urgent test requests for ANCA and/or GBM antibodies performed over a 2-year period. Overall, urgent testing was positive in 28.6% of all requests. When cases of known ANCA-associated vasculitis or GBM disease were excluded, the urgent test positive rate remained high at 23%. The highest rates of new positivity were seen in patients with acute renal impairment and haemoptysis (71%), isolated acute renal impairment (21%) and isolated haemoptysis (18%). Dual positivity with both ANCAs and anti-GBM antibodies occurred in four patients. Our study confirms that clinicians requesting urgent testing are able to identify patients with a high pretest probability for small vessel vasculitis, thus allowing for rapid serological diagnosis.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142795013","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}
Pub Date : 2024-11-12DOI: 10.1016/j.pathol.2024.10.002
Colleen E D'Arcy, Cynthia E Hawkins
Advances in precision medicine and our understanding of the molecular drivers of central nervous system (CNS) tumorigenesis in children have broadened the scope of diagnostic testing that is required on paediatric CNS tumour samples. The pathologist plays a central role in ensuring that the correct test is ordered, in the integration of test results into the diagnosis and in recognising therapeutic targets to guide targeted treatment planning. The diagnostic and molecular workup of many of the prototypical paediatric CNS tumours differs from that required for adult CNS tumours and can be particularly challenging when tissue is limited. Many paediatric CNS tumours are driven by Rat sarcoma virus (RAS)-mitogen-activated protein kinase (MAPK) pathway or histone alterations, a subset are fusion or single-nucleotide variant (SNV) driven, whereas others require specific molecular subgrouping for treatment planning. This review summarises the clinicopathological and molecular features of some of the more prototypical paediatric CNS tumours and provides a practical guide for the pathologist regarding the molecular workup of paediatric CNS tumours. Common diagnostic dilemmas relevant to the diagnosis of paediatric CNS tumours encountered by the paediatric neuropathologist will be explored, together with some suggested approaches to overcoming these. It is hoped this will aid the pathologist to reach a more accurate and clinically informative diagnosis for paediatric CNS tumours.
{"title":"A pathologist's guide for the diagnostic workup of paediatric central nervous system tumours.","authors":"Colleen E D'Arcy, Cynthia E Hawkins","doi":"10.1016/j.pathol.2024.10.002","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.10.002","url":null,"abstract":"<p><p>Advances in precision medicine and our understanding of the molecular drivers of central nervous system (CNS) tumorigenesis in children have broadened the scope of diagnostic testing that is required on paediatric CNS tumour samples. The pathologist plays a central role in ensuring that the correct test is ordered, in the integration of test results into the diagnosis and in recognising therapeutic targets to guide targeted treatment planning. The diagnostic and molecular workup of many of the prototypical paediatric CNS tumours differs from that required for adult CNS tumours and can be particularly challenging when tissue is limited. Many paediatric CNS tumours are driven by Rat sarcoma virus (RAS)-mitogen-activated protein kinase (MAPK) pathway or histone alterations, a subset are fusion or single-nucleotide variant (SNV) driven, whereas others require specific molecular subgrouping for treatment planning. This review summarises the clinicopathological and molecular features of some of the more prototypical paediatric CNS tumours and provides a practical guide for the pathologist regarding the molecular workup of paediatric CNS tumours. Common diagnostic dilemmas relevant to the diagnosis of paediatric CNS tumours encountered by the paediatric neuropathologist will be explored, together with some suggested approaches to overcoming these. It is hoped this will aid the pathologist to reach a more accurate and clinically informative diagnosis for paediatric CNS tumours.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142807740","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":"Real-world utility of cytogenetic testing in cases with 'suspected myelodysplastic neoplasm but insufficient morphological features for diagnosis': a Victorian Cancer Cytogenetics Service experience.","authors":"Holly Pertile, Kenneth J C Lim, Chong Chyn Chua, Merrole Cole-Sinclair, Karen Dun, Slavisa Ninkovic","doi":"10.1016/j.pathol.2024.09.003","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.09.003","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142786397","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}
Pub Date : 2024-11-02DOI: 10.1016/j.pathol.2024.09.004
Yin Li Cindy Khu, Namraj Goire, Andrew McIntyre, Andrew Mahony, Varsha Baldwa, Linda Dreyer
{"title":"Peritoneal Enterobius vermicularis infestation associated with endometriosis.","authors":"Yin Li Cindy Khu, Namraj Goire, Andrew McIntyre, Andrew Mahony, Varsha Baldwa, Linda Dreyer","doi":"10.1016/j.pathol.2024.09.004","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.09.004","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142786395","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}
Pub Date : 2024-11-02DOI: 10.1016/j.pathol.2024.08.015
Noni Chan, Daniel Madani, Rodney S Allan, Joanne Sy, Laveniya Satgunaseelan
{"title":"Hidden identities in plurihormonal pituitary neuroendocrine tumours: expanding the spectrum of the 'silent corticogonadotroph adenoma'.","authors":"Noni Chan, Daniel Madani, Rodney S Allan, Joanne Sy, Laveniya Satgunaseelan","doi":"10.1016/j.pathol.2024.08.015","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.08.015","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780667","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}
Pub Date : 2024-10-26DOI: 10.1016/j.pathol.2024.08.014
Meilong Wu, Ying Xiao, Yan Wang, Lingna Deng, Xiaojuan Wang, Tailai An
According to previous studies, vessels encapsulating tumour clusters (VETC) could promote metastasis of hepatocellular carcinoma (HCC) in a manner independent from epithelial-mesenchymal transition (EMT). However, the prognostic significance of VETC among patients undergoing curative hepatectomy has not been fully explored. This study was performed to assess the prognostic significance of VETC among patients with HCC undergoing curative hepatectomy. A total of 81 patients were included in this study. A predictive model based on VETC was established, then this model was compared with the American Joint Committee on Cancer, Tumor Node Metastasis (AJCC TNM) stage and Barcelona Clinic Liver Cancer (BCLC) system. It was revealed by multivariate Cox regression analysis that a high neutrophil-to-lymphocyte ratio (NLR) [p=0.013, hazard ratio (HR)=6.175, 95% confidence interval (CI) 1.468-25.977], number of tumours (p<0.001, HR=4.119, 95% CI 1.886-8.995) and VETC positivity (p=0.010, HR=2.440, 95% CI 1.235-4.821) were independent predictive factors for disease-free survival (DFS). Additionally, by Kaplan-Meier analysis, we revealed that VETC positivity was associated with worse DFS (p=0.018). The clinical predictive model combining the NLR, number of tumours, and VETC was compared with AJCC TNM stage and BCLC classification system by performing time-dependent receiver operating curve (td-ROC) analysis, revealing that the clinical predictive model was superior to AJCC TNM stage and BCLC system at different timepoints. Additionally, we demonstrated that the clinical model could well predict DFS by plotting calibration curves. VETC could be utilised as an efficient prognostic factor for HCC and the clinical predictive model combining the NLR, number of tumours, and VETC was superior to AJCC TNM stage and BCLC system in predicting cancer recurrence.
{"title":"Establishment of a clinical model based on vessels encapsulating tumour clusters that could efficiently predict recurrence of patients with hepatocellular carcinoma after curative hepatectomy.","authors":"Meilong Wu, Ying Xiao, Yan Wang, Lingna Deng, Xiaojuan Wang, Tailai An","doi":"10.1016/j.pathol.2024.08.014","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.08.014","url":null,"abstract":"<p><p>According to previous studies, vessels encapsulating tumour clusters (VETC) could promote metastasis of hepatocellular carcinoma (HCC) in a manner independent from epithelial-mesenchymal transition (EMT). However, the prognostic significance of VETC among patients undergoing curative hepatectomy has not been fully explored. This study was performed to assess the prognostic significance of VETC among patients with HCC undergoing curative hepatectomy. A total of 81 patients were included in this study. A predictive model based on VETC was established, then this model was compared with the American Joint Committee on Cancer, Tumor Node Metastasis (AJCC TNM) stage and Barcelona Clinic Liver Cancer (BCLC) system. It was revealed by multivariate Cox regression analysis that a high neutrophil-to-lymphocyte ratio (NLR) [p=0.013, hazard ratio (HR)=6.175, 95% confidence interval (CI) 1.468-25.977], number of tumours (p<0.001, HR=4.119, 95% CI 1.886-8.995) and VETC positivity (p=0.010, HR=2.440, 95% CI 1.235-4.821) were independent predictive factors for disease-free survival (DFS). Additionally, by Kaplan-Meier analysis, we revealed that VETC positivity was associated with worse DFS (p=0.018). The clinical predictive model combining the NLR, number of tumours, and VETC was compared with AJCC TNM stage and BCLC classification system by performing time-dependent receiver operating curve (td-ROC) analysis, revealing that the clinical predictive model was superior to AJCC TNM stage and BCLC system at different timepoints. Additionally, we demonstrated that the clinical model could well predict DFS by plotting calibration curves. VETC could be utilised as an efficient prognostic factor for HCC and the clinical predictive model combining the NLR, number of tumours, and VETC was superior to AJCC TNM stage and BCLC system in predicting cancer recurrence.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818876","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}
Pub Date : 2024-09-07DOI: 10.1016/j.pathol.2024.08.001
Jane Thompson , Geoffrey Thompson , Deborah White , David Yeung
Diagnosis of Philadelphia chromosome-like acute lymphoblastic leukaemia (Ph-like ALL) in the real-world remains challenging because of definitional complexities, the diverse diagnostic techniques available and the cost, expertise and time involved. We summarise evidence for diagnosis of clinically important Ph-like ALL related genomic lesions using fluorescence in situ hybridisation (FISH) targeting only clinically important and actionable lesions, an accessible and cost-effective diagnostic technique.
Electronic databases were interrogated using broad MeSH terms for articles reporting a detailed FISH strategy for diagnosis of Ph-like ALL published since 2014, yielding 653 full text articles and abstracts. We searched the National Library of Medicine Databases including PubMed, Medline, Embase, Cochrane and relevant abstracts. We included studies with a primary aim of determining the utility of FISH for Ph-like ALL diagnosis and studies with broader aims demonstrating Ph-like ALL diagnostic algorithms which partially involved FISH.
Nineteen studies met inclusion criteria. Evidence for FISH to detect CRLF2 rearrangements in Ph-like ALL is strongly established and evidence for FISH to detect non-CRLF2 lesions is evolving rapidly. We documented 1620 cases of non-CRLF2 Ph-like lesions diagnosed by FISH. Confirmatory side-by-side methods were applied in six studies (246 samples), four of which demonstrated 100% concordance of FISH results with alternative methods, while two studies demonstrated over 70% sensitivity and specificity. Additional studies demonstrated wide utilisation of FISH in Ph-like ALL classification across diverse geographies and ethnicities, with contrasting prevalence, implicating a need for targeted FISH strategies.
In real-world cohorts, it may be clinically useful to prioritise limited early FISH in B-cell ALL (B-ALL) diagnostic algorithms to identify Ph-like abnormalities that respond to locally available kinase inhibitors to promote and prioritise broad access to effective targeted treatment. Additional studies are required to provide adequately powered validations and verifications of targeted Ph-like FISH panels to confirm sensitivity and specificity against side-by-side gold standard methods, and to define optimal local approaches.
{"title":"Judicious use of precise fluorescence in situ hybridisation panels guided by population prevalence may assist pragmatic detection of clinically targetable Philadelphia chromosome-like acute lymphoblastic leukaemia fusions: a systematic review","authors":"Jane Thompson , Geoffrey Thompson , Deborah White , David Yeung","doi":"10.1016/j.pathol.2024.08.001","DOIUrl":"10.1016/j.pathol.2024.08.001","url":null,"abstract":"<div><div>Diagnosis of Philadelphia chromosome-like acute lymphoblastic leukaemia (Ph-like ALL) in the real-world remains challenging because of definitional complexities, the diverse diagnostic techniques available and the cost, expertise and time involved. We summarise evidence for diagnosis of clinically important Ph-like ALL related genomic lesions using fluorescence <em>in situ</em> hybridisation (FISH) targeting only clinically important and actionable lesions, an accessible and cost-effective diagnostic technique.</div><div>Electronic databases were interrogated using broad MeSH terms for articles reporting a detailed FISH strategy for diagnosis of Ph-like ALL published since 2014, yielding 653 full text articles and abstracts. We searched the National Library of Medicine Databases including PubMed, Medline, Embase, Cochrane and relevant abstracts. We included studies with a primary aim of determining the utility of FISH for Ph-like ALL diagnosis and studies with broader aims demonstrating Ph-like ALL diagnostic algorithms which partially involved FISH.</div><div>Nineteen studies met inclusion criteria. Evidence for FISH to detect <em>CRLF2</em> rearrangements in Ph-like ALL is strongly established and evidence for FISH to detect non-<em>CRLF2</em> lesions is evolving rapidly. We documented 1620 cases of non-<em>CRLF2</em> Ph-like lesions diagnosed by FISH. Confirmatory side-by-side methods were applied in six studies (246 samples), four of which demonstrated 100% concordance of FISH results with alternative methods, while two studies demonstrated over 70% sensitivity and specificity. Additional studies demonstrated wide utilisation of FISH in Ph-like ALL classification across diverse geographies and ethnicities, with contrasting prevalence, implicating a need for targeted FISH strategies.</div><div>In real-world cohorts, it may be clinically useful to prioritise limited early FISH in B-cell ALL (B-ALL) diagnostic algorithms to identify Ph-like abnormalities that respond to locally available kinase inhibitors to promote and prioritise broad access to effective targeted treatment. Additional studies are required to provide adequately powered validations and verifications of targeted Ph-like FISH panels to confirm sensitivity and specificity against side-by-side gold standard methods, and to define optimal local approaches.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 7","pages":"Pages 931-941"},"PeriodicalIF":3.6,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-26DOI: 10.1016/j.pathol.2024.06.011
Maurizio Stefani, Justin Ellem, Neisha Jeoffreys, Jimmy Ng, Dominic E. Dwyer, Sharon C-A. Chen, Jen Kok
{"title":"Frequent detection of herpes simplex virus and varicella zoster virus in samples submitted for monkeypox virus testing in New South Wales, Australia during the mpox outbreak 2022–2023","authors":"Maurizio Stefani, Justin Ellem, Neisha Jeoffreys, Jimmy Ng, Dominic E. Dwyer, Sharon C-A. Chen, Jen Kok","doi":"10.1016/j.pathol.2024.06.011","DOIUrl":"10.1016/j.pathol.2024.06.011","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 7","pages":"Pages 1041-1043"},"PeriodicalIF":3.6,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142205225","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}