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Diagnostic performance of assays for urgent MPO, PR3 and GBM autoantibodies in suspected vasculitis. 紧急MPO, PR3和GBM自身抗体检测在疑似血管炎中的诊断性能。
IF 3.6 3区 医学 Q1 PATHOLOGY Pub Date : 2024-11-13 DOI: 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.

快速检测抗中性粒细胞胞浆抗体(ANCAs)和肾小球基底膜抗体(GBM)可能有助于小血管炎的早期诊断。在澳大利亚的背景下,这些抗体的紧急测试的临床效用尚不清楚。我们的回顾性研究检查了2年内ANCA和/或GBM抗体的紧急检测要求。总的来说,28.6%的紧急测试是阳性的。当排除已知的anca相关血管炎或GBM疾病时,紧急检测阳性率仍高达23%。新阳性率最高的是急性肾功能损害和咯血患者(71%)、孤立性急性肾功能损害(21%)和孤立性咯血(18%)。4例患者出现anca和抗gbm抗体双重阳性。我们的研究证实,要求紧急检测的临床医生能够识别小血管炎的高检测前概率患者,从而允许快速血清学诊断。
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引用次数: 0
A pathologist's guide for the diagnostic workup of paediatric central nervous system tumours. 小儿中枢神经系统肿瘤病理诊断指南。
IF 3.6 3区 医学 Q1 PATHOLOGY Pub Date : 2024-11-12 DOI: 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.

精准医学的进步和我们对儿童中枢神经系统(CNS)肿瘤发生的分子驱动因素的理解,扩大了儿科中枢神经系统肿瘤样本所需的诊断测试范围。病理学家在确保进行正确的检查,将检查结果整合到诊断中以及识别治疗目标以指导有针对性的治疗计划方面发挥着核心作用。许多典型的儿童中枢神经系统肿瘤的诊断和分子检查不同于成人中枢神经系统肿瘤的诊断和分子检查,当组织有限时,诊断和分子检查尤其具有挑战性。许多小儿中枢神经系统肿瘤是由大鼠肉瘤病毒(RAS)-丝裂原活化蛋白激酶(MAPK)途径或组蛋白改变驱动的,一部分是融合或单核苷酸变异(SNV)驱动的,而其他肿瘤则需要特定的分子亚群来制定治疗计划。本文综述了一些较为典型的小儿中枢神经系统肿瘤的临床病理和分子特征,并为病理学家对小儿中枢神经系统肿瘤的分子检查提供了实用的指导。与儿科神经病理学家遇到的儿科中枢神经系统肿瘤诊断相关的常见诊断困境将被探讨,以及一些建议的方法来克服这些。希望这将有助于病理学家达到更准确和临床信息诊断小儿中枢神经系统肿瘤。
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引用次数: 0
Real-world utility of cytogenetic testing in cases with 'suspected myelodysplastic neoplasm but insufficient morphological features for diagnosis': a Victorian Cancer Cytogenetics Service experience. 在“疑似骨髓增生异常肿瘤但形态学特征不足以诊断”的病例中,细胞遗传学检测的实际应用:维多利亚癌症细胞遗传学服务经验。
IF 3.6 3区 医学 Q1 PATHOLOGY Pub Date : 2024-11-04 DOI: 10.1016/j.pathol.2024.09.003
Holly Pertile, Kenneth J C Lim, Chong Chyn Chua, Merrole Cole-Sinclair, Karen Dun, Slavisa Ninkovic
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引用次数: 0
Peritoneal Enterobius vermicularis infestation associated with endometriosis. 子宫内膜异位症与腹膜蛭状肠虫感染有关。
IF 3.6 3区 医学 Q1 PATHOLOGY Pub Date : 2024-11-02 DOI: 10.1016/j.pathol.2024.09.004
Yin Li Cindy Khu, Namraj Goire, Andrew McIntyre, Andrew Mahony, Varsha Baldwa, Linda Dreyer
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引用次数: 0
Hidden identities in plurihormonal pituitary neuroendocrine tumours: expanding the spectrum of the 'silent corticogonadotroph adenoma'. 多激素垂体神经内分泌肿瘤的隐藏特征:扩大“沉默的皮质促性腺腺瘤”的范围。
IF 3.6 3区 医学 Q1 PATHOLOGY Pub Date : 2024-11-02 DOI: 10.1016/j.pathol.2024.08.015
Noni Chan, Daniel Madani, Rodney S Allan, Joanne Sy, Laveniya Satgunaseelan
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引用次数: 0
Chimerism detected in a healthy woman with an ABO genotype-phenotype discrepancy. 在ABO基因型-表型差异的健康女性中检测到嵌合现象。
IF 3.6 3区 医学 Q1 PATHOLOGY Pub Date : 2024-11-02 DOI: 10.1016/j.pathol.2024.09.002
Hang Lei, Feng Shao, Chengrui Qian, Can Lou, Yuqing Wang, Jiaming Li, Xiaohong Cai
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引用次数: 0
Establishment of a clinical model based on vessels encapsulating tumour clusters that could efficiently predict recurrence of patients with hepatocellular carcinoma after curative hepatectomy. 基于血管包膜肿瘤簇的临床模型的建立,可有效预测肝细胞癌根治性肝切除术后复发。
IF 3.6 3区 医学 Q1 PATHOLOGY Pub Date : 2024-10-26 DOI: 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.

根据以往的研究,血管包裹肿瘤簇(VETC)可以独立于上皮-间质转化(EMT)的方式促进肝细胞癌(HCC)的转移。然而,VETC在治疗性肝切除术患者中的预后意义尚未得到充分探讨。本研究旨在评估VETC在行根治性肝切除术的HCC患者中的预后意义。本研究共纳入81例患者。建立基于VETC的预测模型,并将该模型与美国癌症、肿瘤淋巴结转移联合委员会(AJCC) TNM分期和巴塞罗那临床肝癌(BCLC)系统进行比较。多因素Cox回归分析显示,高中性粒细胞与淋巴细胞比值(NLR) [p=0.013,风险比(HR)=6.175, 95%可信区间(CI) 1.468 ~ 25.977]、肿瘤数量(p . 0.05)、肿瘤数量(p . 0.05)、肿瘤数量(p . 0.05)、肿瘤数量(p . 0.05)、肿瘤数量(p . 0.05)、肿瘤数量(p . 0.05)
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引用次数: 0
IF 3.6 3区 医学 Q1 PATHOLOGY Pub Date : 2024-09-20 DOI: 10.1016/j.pathol.2024.09.001
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引用次数: 0
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 以人群流行率为指导,明智地使用精确的荧光原位杂交面板,可帮助实用地检测临床上可靶向的费城染色体样急性淋巴细胞白血病融合:系统综述
IF 3.6 3区 医学 Q1 PATHOLOGY Pub Date : 2024-09-07 DOI: 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.
在现实世界中,费城染色体样急性淋巴细胞白血病(Ph-like ALL)的诊断仍然具有挑战性,因为定义复杂、诊断技术多样,而且涉及成本、专业知识和时间。我们总结了利用荧光杂交(FISH)技术诊断临床上重要的Ph-like ALL相关基因组病变的证据,该技术只针对临床上重要且可操作的病变,是一种方便且经济有效的诊断技术。
{"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 ,&nbsp;Geoffrey Thompson ,&nbsp;Deborah White ,&nbsp;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}
引用次数: 0
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 2022-2023 年澳大利亚新南威尔士州猴痘病毒爆发期间,在提交猴痘病毒检测的样本中频繁检测到单纯疱疹病毒和水痘带状疱疹病毒
IF 3.6 3区 医学 Q1 PATHOLOGY Pub Date : 2024-08-26 DOI: 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,&nbsp;Justin Ellem,&nbsp;Neisha Jeoffreys,&nbsp;Jimmy Ng,&nbsp;Dominic E. Dwyer,&nbsp;Sharon C-A. Chen,&nbsp;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}
引用次数: 0
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Pathology
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