Pathology最新文献_第2页

Pathological spectrum of sporadic Creutzfeldt-Jakob disease.

IF 3.6 3区医学

Pathology Pub Date : 2024-11-13 DOI: 10.1016/j.pathol.2024.09.005

Diane L Ritchie, Colin Smith

{"title":"Pathological spectrum of sporadic Creutzfeldt-Jakob disease.","authors":"Diane L Ritchie, Colin Smith","doi":"10.1016/j.pathol.2024.09.005","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.09.005","url":null,"abstract":"Human prion diseases are a rare group of transmissible neurodegenerative conditions which are classified according to their aetiology as sporadic, genetic or acquired forms. Creutzfeldt-Jakob disease (CJD) is the most common form of human prion disease, with the sporadic form accounting for ∼85% of all reported cases. While advances have been made in the development of clinical tools and biomarkers in the diagnosis of prion disease, allowing greater diagnostic certainty for surveillance purposes, definitive diagnosis requires neuropathological examination of the brain at postmortem. Since the 1990s, efforts have been made to develop a classification system for sporadic CJD (sCJD) based on observed differences in the clinical features and the pathological phenotype (the nature and degree of spongiform vacuolation, neuronal loss, astrogliosis and misfolded prion protein accumulation in the brain), also referred to as the 'histotype'. Six major clinicopathological subtypes of sCJD are internationally recognised, largely correlating with the combination of the two distinct types of the protease-resistant prion protein (PrPres type 1 or 2) and the methionine (M)/valine (V) polymorphism at codon 129 of the prion protein gene (PRNP): MM1/MV1, MM2-cortical, MM2-thalamic, MV2, VV1 and VV2. This classification system has been extended to recognise sCJD cases demonstrating both mixed PrPres types or mixed histotypes in the brain of the same individual, as well as including atypical or novel pathological phenotypes. In this review, we will provide an up-to-date overview of the current classification of sCJD based on the prominent neuropathological features. In addition, with levels of infectivity at their highest in the brain, we will also discuss the additional precautions that are recommended when handling and examining postmortem tissues from patients with suspected prion disease.","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":"142813990","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

Diagnostic performance of assays for urgent MPO, PR3 and GBM autoantibodies in suspected vasculitis.

IF 3.6 3区医学

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

引用次数: 0

Clinicopathological collaboration in adult muscle disease: a pragmatic pathway to approach diagnostic dilemmas.

IF 3.6 3区医学

Pathology Pub Date : 2024-11-13 DOI: 10.1016/j.pathol.2024.10.004

Monika Hofer, Stefen Brady

{"title":"Clinicopathological collaboration in adult muscle disease: a pragmatic pathway to approach diagnostic dilemmas.","authors":"Monika Hofer, Stefen Brady","doi":"10.1016/j.pathol.2024.10.004","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.10.004","url":null,"abstract":"The role of muscle biopsy in the investigation of neuromuscular disease remains firmly established but has evolved. Expertise in diagnostic myopathology remains relevant and supports clinical practice. Neuromuscular disease is rare; thus clinicopathological correlation, or better, collaboration is important. The process starts in the clinic with the identification of patients for whom muscle biopsy will be beneficial for diagnosis and management in a multidisciplinary neuromuscular care setting. In this review article, we describe the current use of muscle biopsy in our adult practice and discuss several carefully selected real cases [e.g., asymmetric hand weakness, dysphagia and proximal weakness, subacute weakness with raised creatine kinase (CK), non-specific presentation], where biopsy and collaboration have been instrumental in achieving the correct diagnosis for the patient. We discuss areas of diagnostic difficulty, such as fairly common starting scenarios leading to unusual entities, atypical presentations of common diseases and novel pathological findings. We will focus on the idiopathic inflammatory myopathies (IIMs), the most common indication for adult muscle biopsies in many diagnostic settings, whereby the use of an integrated clinical-serological-pathological classification is now firmly established. We will also explore the evolving role for and continuing need of muscle biopsy in the genomic era, particularly with assessing the potential pathogenicity of reported genetic variants of uncertain significance (VUS). We describe a pragmatic approach to detecting the more common disorders, which also enables us to distinguish 'the horses from the zebras' and manage diagnostic uncertainty.","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":"142818872","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

A pathologist's guide for the diagnostic workup of paediatric central nervous system tumours.

IF 3.6 3区医学

Pathology Pub Date : 2024-11-12 DOI: 10.1016/j.pathol.2024.10.002

Colleen E D'Arcy, Cynthia E Hawkins

{"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":"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.","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}

引用次数: 0

Cribriform intraductal carcinoma of the prostate may be more aggressive than cribriform conventional/acinar prostatic adenocarcinoma: counterintuitive finding needs validation. 前列腺楔形导管内癌可能比楔形传统/尖锐前列腺腺癌更具侵袭性：这一反直觉的发现需要验证。

IF 3.6 3区医学

Pathology Pub Date : 2024-11-05 DOI: 10.1016/j.pathol.2024.10.001

Murali Varma, Theodorus H van der Kwast

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.

IF 3.6 3区医学

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

引用次数: 0

Peritoneal Enterobius vermicularis infestation associated with endometriosis.

IF 3.6 3区医学

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

引用次数: 0

Hidden identities in plurihormonal pituitary neuroendocrine tumours: expanding the spectrum of the 'silent corticogonadotroph adenoma'.

IF 3.6 3区医学

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

引用次数: 0

Chimerism detected in a healthy woman with an ABO genotype-phenotype discrepancy.

IF 3.6 3区医学

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

引用次数: 0

Cribriform intraductal carcinoma of the prostate may be more aggressive than cribriform conventional/acinar prostatic adenocarcinoma. 前列腺楔形导管内癌可能比楔形传统/尖锐前列腺腺癌更具侵袭性。

IF 3.6 3区医学

Pathology Pub Date : 2024-10-28 DOI: 10.1016/j.pathol.2024.08.012

Ying Wang, Yuki Teramoto, Hiroshi Miyamoto

{"title":"Cribriform intraductal carcinoma of the prostate may be more aggressive than cribriform conventional/acinar prostatic adenocarcinoma.","authors":"Ying Wang, Yuki Teramoto, Hiroshi Miyamoto","doi":"10.1016/j.pathol.2024.08.012","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.08.012","url":null,"abstract":"It remains to be determined if the prognostic value of cribriform morphology (Crib) associated with intraductal carcinoma of the prostate (IDC) is equivalent to that in conventional/acinar prostatic adenocarcinoma (CPA). We herein assessed radical prostatectomy findings and long-term oncologic outcomes in 732 men with Grade Group 2-4 CPA without any Gleason pattern 5. Our cases were divided into four cohorts according to the absence or presence of Crib within CPA and/or IDC: Cohort-1, no Crib (n=347; 47.4%); Cohort-2, Crib only in CPA (n=203; 27.7%); Cohort-3, Crib only in IDC (n=17; 2.3%); and Cohort-4, Crib in both CPA and IDC (n=165; 22.5%). Compared with that in CPA only (Cohort-2), Crib in both CPA and IDC (Cohort-4) was significantly associated with adverse histopathological features, including higher tumour grade/stage and larger tumour volume. Univariate analysis revealed significantly higher risks of postoperative recurrence in patients with Crib in IDC only [Cohort-3; hazard ratio (HR) 2.450, p=0.022] or both CPA and IDC (Cohort-4; HR 2.835, p<0.001) than in those with Crib in CPA only (Cohort-2), whereas the prognosis was analogous between Cohort-3 and Cohort-4 (p=0.913). In a multivariable analysis [Crib in CPA only (Cohort-2) as a reference], Crib in IDC only (Cohort-3; HR 3.821, p=0.002) or both CPA and IDC (Cohort-4; HR 1.905, p=0.004) showed significantly worse recurrence-free survival. Compared with Crib in CPA only, its presence in both CPA and IDC was thus found to be independently associated with a poorer prognosis, suggesting a potentially greater clinical impact of Crib in IDC than in CPA.","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142731716","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