Pathology最新文献

{"title":"Immature platelet fraction levels predict the development of prolonged thrombocytopenia after haematopoietic stem cell transplantation","authors":"Jun Cao ,&nbsp;Jun Qiu ,&nbsp;Jieyu Jin ,&nbsp;Sheng Zhang ,&nbsp;Jiahui Qu ,&nbsp;Mingyue Wang ,&nbsp;Longwei Qiao ,&nbsp;Yuting Liang","doi":"10.1016/j.pathol.2024.04.014","DOIUrl":"10.1016/j.pathol.2024.04.014","url":null,"abstract":"<div><div>Prolonged thrombocytopenia (PT) is a serious complication after haematopoietic stem cell transplantation (HSCT). PT has been suggested to be associated with an increased platelet transfusion requirement and poor outcomes after transplantation. Due to the complex mechanism of PT development, it is difficult to diagnose in the early post-transplant period. Our study aimed to identify an early predictive marker for PT after HSCT. Previous studies showed that the clinical utility of immature platelet fraction (IPF) predicts platelet recovery after chemotherapy and successful engraftment. However, the relationship between IPF and PT after HSCT remains unclear. Fifty-two patients with malignant haematological diseases who underwent HSCT were included in the study. We observed the kinetics of recovery of haematological parameters after transplantation and performed receiver operating characteristics (ROC) curve analysis using data from the 52 HSCT patients.</div><div>The days to rise and peak of IPF, absolute IPF count (A-IPF) and highly fluorescent IPF (H-IPF) were almost synchronised in all patients, at day 10 and day 15, respectively. The begin to rise levels of IPF, H-IPF and A-IPF were all significantly lower in the PT group than in the good engraftment (GE) group (<em>p</em>=0.0016, <em>p</em>=0.0094, <em>p</em>=0.0086, respectively). The peak levels of IPF were significantly lower in the PT group than the GE group (<em>p</em>=0.0036). However, the peaks of H-IPF and A-IPF were not statistically significant between the two groups (<em>p</em>=0.3383, <em>p</em>=0.0887, respectively). The area under the ROC curve (AUC) of IPF rise was 0.739 (95% CI 0.583–0.896; <em>p</em>&lt;0.05) and the cut-off value was 3.5%, while the AUC of IPF peak was 0.800 (95% CI 0.637–0.962; <em>p</em>&lt;0.01) and the cut-off value was 8.0%. In conclusion, early low levels of IPF predict the development of PT after HSCT. These findings may help improve the management and treatment strategies for PT after HSCT.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 7","pages":"Pages 1000-1006"},"PeriodicalIF":3.6,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141713574","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}

{"title":"Adenomatoid tumour with perineural space involvement: the utility of next-generation sequencing in this diagnostic conundrum","authors":"Noni Chan ,&nbsp;Sewon Kim ,&nbsp;Vivek Rathi ,&nbsp;Warick Delprado ,&nbsp;Ashan Canagasingham ,&nbsp;Venu Chalasani ,&nbsp;Christopher Toon","doi":"10.1016/j.pathol.2024.05.003","DOIUrl":"10.1016/j.pathol.2024.05.003","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 925-927"},"PeriodicalIF":3.6,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141715430","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":"Corrigendum to “Prognostic and predictive biomarkers in head and neck cancer: something old, something new, something borrowed, something blue and a sixpence in your shoe” [Pathology 56 (2) (2024) 170–185]","authors":"Sapna Balgobind ,&nbsp;Veronica K.Y. Cheung ,&nbsp;Peter Luk ,&nbsp;Tsu-Hui Hubert Low ,&nbsp;James Wykes ,&nbsp;Raymond Wu ,&nbsp;Jenny Lee ,&nbsp;Sydney Ch'ng ,&nbsp;Carsten E. Palme ,&nbsp;Jonathan R. Clark ,&nbsp;Ruta Gupta","doi":"10.1016/j.pathol.2024.07.001","DOIUrl":"10.1016/j.pathol.2024.07.001","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Page 930"},"PeriodicalIF":3.6,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0031302524001739/pdfft?md5=4fa7f8d7b1bf03f094b2db3ccb66e226&pid=1-s2.0-S0031302524001739-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141703808","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}

{"title":"Demographic, clinical and molecular epidemiology of extended-spectrum beta-lactamase-producing Escherichia coli bloodstream infections in Central Australia","authors":"Freya Langham ,&nbsp;Danny Tsai ,&nbsp;Brian M. Forde ,&nbsp;Shayne Camilleri ,&nbsp;Patrick N.A. Harris ,&nbsp;Jason A. Roberts ,&nbsp;Fabian Chiong","doi":"10.1016/j.pathol.2024.04.013","DOIUrl":"10.1016/j.pathol.2024.04.013","url":null,"abstract":"<div><div>We describe the demographics, clinical and molecular epidemiology of extended-spectrum β-lactamase (ESBL) <em>Escherichia coli</em> bloodstream infections (BSI) in Central Australia.</div><div>All ESBL-producing <em>E. coli</em> bloodstream isolates from January 2018 to December 2020 were retrospectively identified. Demographic and clinical information was extracted by chart review. Whole-genome sequencing was performed for multi-locus sequence typing, antibiotic-resistance genes, and phylogenetic relationships.</div><div>We identified 41 non-duplicate episodes of ESBL <em>E. coli</em> BSI. Median age was 55 years (IQR 47–63), 78% were female, 93% were Aboriginal, and half came from a remote community. Infections were predominantly urinary (68%, 28/41). In the 12 months prior, 70% (26/37) of identified patients had been hospitalised and 81% (30/37) prescribed antibiotics. Meropenem and piperacillin-tazobactam susceptibility was maintained in 100% and 95% of isolates, respectively. Co-resistance to non-β-lactam antibiotics was 32% to gentamicin, 61% to trimethoprim/sulfamethoxazole, and 68% to ciprofloxacin. For sequenced isolates, 41% (16/35) were sequence type 131 (ST131). Mean acquired antibiotic-resistance genes for each isolate was 12.3 (SD 3.1). Four isolates carried an <em>OXA-1</em> gene. Only non-ST131 isolates carried AmpC and acquired quinolone-resistance genes. There was some evidence of clustering of closely related strains, but no evidence of community or healthcare admission overlap.</div><div>ESBL rates are rapidly rising in Central Australia, which is a conducive environment for antibiotic resistance development (e.g., overcrowding, socioeconomic disadvantages, high healthcare exposure and high antibiotic use). Future research is required to explore resistance-transmission dynamics in this unique setting.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 7","pages":"Pages 1012-1020"},"PeriodicalIF":3.6,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141706516","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":"Paul Craig Vincent, BSc(Med), MBBS, MD, FRACP, FRCPA, 1935–2024","authors":"","doi":"10.1016/j.pathol.2024.06.001","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.06.001","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 5","pages":"Page 762"},"PeriodicalIF":3.6,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0031302524001636/pdfft?md5=54d75a765d0140826745385935cfe381&pid=1-s2.0-S0031302524001636-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141543395","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}

{"title":"Laboratory validation and clinical utility of next-generation sequencing-based IGH/TCR clonality testing for the monitoring of measurable residual disease in acute lymphoblastic leukaemia: real-world experience at Austin Pathology","authors":"Stephen B. Ma ,&nbsp;Wendi Lin ,&nbsp;Janine Campbell ,&nbsp;Kerrie Clerici ,&nbsp;Deborah White ,&nbsp;David Yeung ,&nbsp;Malgorzata Gorniak ,&nbsp;Shaun Fleming ,&nbsp;Chun Y. Fong ,&nbsp;Rishu Agarwal","doi":"10.1016/j.pathol.2024.04.012","DOIUrl":"10.1016/j.pathol.2024.04.012","url":null,"abstract":"<div><div><span><span>Measurable residual disease (MRD) testing is an essential aspect of disease prognostication in acute lymphoblastic leukaemia<span> (ALL) and informs clinical decisions. The depth of MRD clearance is highly relevant and requires assays with sufficient sensitivity. Austin Pathology is one of the few laboratories in Australia currently utilising a fully validated and National Association of Testing Authorities (NATA)-accredited ultrasensitive next-generation sequencing (NGS) platform for MRD monitoring in ALL. This technology is based on the detection of clonal rearrangement of immunoglobulin and T cell </span></span>receptor genes in leukaemic cells, and is capable of achieving a limit of detection at least one to two logs below that of multiparametric flow cytometry (MFC). In this retrospective analysis, we report a clonotype detection rate of up to 85.7% at diagnosis, and a concordance rate of 78.7% in MRD results between NGS and MFC. Of the discordant samples, nearly all were NGS</span>⁺/MFC^–<span>, highlighting the superior sensitivity of NGS. The enhanced sensitivity is clinically relevant, as discordant MRD results often heralded fulminant relapse, and therefore offer clinicians additional lead time and a window of opportunity to initiate pre-emptive therapy. Notwithstanding a small and heterogeneous cohort, our real-world survival data indicate an intermediate relapse risk for NGS</span>⁺/MFC^–<span> patients. In light of recent approval of Medicare rebatable ALL MRD testing, we discuss how NGS can complement other techniques such as MFC in personalising management strategies. We recommend routine clonality testing by NGS at diagnosis and use a multi-modality approach for subsequent MRD monitoring.</span></div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 7","pages":"Pages 982-992"},"PeriodicalIF":3.6,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141707359","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":"Multiple myeloma masquerades as T-cell lymphoma by nodal presentation with anaplastic morphology and expression of CD3 and CD45","authors":"Sheng-Tsung Chang ,&nbsp;Hung-Chang Wu ,&nbsp;Yu-Ting Kuo ,&nbsp;Shih-Sung Chuang","doi":"10.1016/j.pathol.2024.04.011","DOIUrl":"10.1016/j.pathol.2024.04.011","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 908-909"},"PeriodicalIF":3.6,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141715197","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":"Clinical validation of an abbreviated karyotype analysis protocol for fertility evaluation","authors":"Eric Lee ,&nbsp;Kaylee Orton ,&nbsp;Meg Langton ,&nbsp;Jodi Irving ,&nbsp;Ken Evans","doi":"10.1016/j.pathol.2024.04.010","DOIUrl":"10.1016/j.pathol.2024.04.010","url":null,"abstract":"<div><p>Conventional G-banded karyotype is an essential tool for detecting chromosomal variants in patients undergoing fertility evaluation. In Australia, 15 cells are traditionally analysed or counted, to enhance detection of mosaic chromosomal variants. However, this protocol is not backed by clinical evidence. This study aims to assess the test performance of an abbreviated 5-cell karyotype analysis protocol in adult patients undergoing fertility evaluation.</p><p>A retrospective review of 53,293 blood karyotype tests, performed between 2019 and 2023, was conducted on a patient cohort primarily referred by reproductive endocrinology specialists. There were 513 variants reported in this cohort. Low level mosaic variants, where the variant was observed in less than 40% of cells, were reported in 13 cases, or one in 4,100 patients. Due to reduced sensitivity for low level mosaic variants, a 5-cell protocol is estimated to have a test sensitivity of 97.3% and a negative predictive value of 99.97%. A decision-making flowchart is proposed and we show that additional chromosome analysis and/or counts would be triggered in fewer than one in 10 cases using a 5-cell protocol, whilst remaining appropriate for detecting clinically significant mosaicism.</p><p>A 5-cell karyotype analysis protocol therefore maintains analytical and clinical validity in adult patients undergoing fertility-related blood karyotyping. Future research is recommended to validate these findings across laboratories and to explore their application to other clinical contexts.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 874-881"},"PeriodicalIF":3.6,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141722249","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":"Indeterminate measurable residual disease by multiparameter flow cytometry is associated with an intermediate risk of clinical relapse in adult patients with acute leukaemia","authors":"","doi":"10.1016/j.pathol.2024.04.009","DOIUrl":"10.1016/j.pathol.2024.04.009","url":null,"abstract":"<div><p><span><span>Measurable residual disease (MRD) is useful for prognostication and for monitoring response to treatment in patients with acute leukaemia. MRD by multiparametric flow cytometry (MFC-MRD) utilises the leukaemia-associated </span>immunophenotype (LAIP) and difference from normal (DfN) strategies to identify the leukaemic clone. Difficulties arise when the LAIP overlaps with normal regeneration, there is clonal evolution, or when the abnormal clone population is exceptionally small e.g., &lt;0.01% of CD45</span>⁺ cells. Such cases are reported as ‘indeterminate’; however, there is little international consensus on this reporting. The relationship between clinical outcomes and indeterminate MFC-MRD is unknown. Here we determine the rate of indeterminate MFC-MRD reporting, its relationship to concurrent molecular MRD results when available, and to clinical outcomes to 12 months. We performed an internal audit of all adult testing for MFC-MRD between January and December 2021. A total of 153 consecutive patients with a diagnosis of acute leukaemia were included. Successive MFC-MRD results and clinical outcomes were recorded over a 12-month period from time of inclusion into the study. In total, 460 MFC-MRD tests from 153 patients were reviewed and 73 (16%) MFC-MRD tests from 54 (35%) patients were reported as indeterminate. The majority (70%) were at low levels between 0.01–0.1% of CD45⁺<span> cells. Compared to patients with a negative result, acute myeloid leukaemia<span> (AML) was more frequent in patients who had an indeterminate MFC-MRD (70% vs 36%), and B-cell acute lymphoblastic leukaemia was less common (20% vs 55%). In patients with indeterminate MFC-MRD results, one-third had received either chemotherapy or allogeneic haemopoietic stem cell transplant<span> (aHSCT) within the preceding 3 months. Agreement between MFC and molecular MRD testing was low. Patients with indeterminate MFC-MRD had leukaemia relapse rates below patients with a positive MFC-MRD, but greater than those with negative MFC-MRD (positive 33% vs indeterminate 21% vs negative 8%, </span></span></span><em>p</em><span> = 0.038). Overall, these findings indicate that indeterminate MFC-MRD results are more common in adults with AML and also in those who have received chemotherapy or aHSCT within the previous 3 months. We report for the first time that indeterminate MFC-MRD is a finding of potential clinical significance, which associates with a numerically higher median relapse rate within 12 months when compared to a negative MFC-MRD result.</span></p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 882-888"},"PeriodicalIF":3.6,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141576833","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":"Hidrocystoma-like tumours with RET or ALK fusion: a study of four cases","authors":"","doi":"10.1016/j.pathol.2024.04.008","DOIUrl":"10.1016/j.pathol.2024.04.008","url":null,"abstract":"<div><p><span><span>Hidrocystoma is thought to be a benign retention cyst of </span>sweat ductal units. The lesion is usually located in the periorbital skin; however, lesions with similar histopathological features are rarely observed in extra-facial sites. Herein, we present four cases of hidrocystoma-like tumours in extra-facial skin sites that harboured a </span><em>RET</em> or <em>ALK</em><span> rearrangement. This study features a 67-year-old female with a 10 mm-sized digital tumour (Case 1), a 62-year-old male with an 8 mm-sized clavicular tumour (Case 2), a 61-year-old male with a 19<span> mm-sized digital tumour (Case 3), and an 11-year-old female with a 10 mm-size lower leg tumour (Case 4) as well as five control cases (Cases 5–9) of classical periorbital hidrocystoma. In Cases 1–4, multicystic tumours comprising a two-cell layer of inner cuboidal ductoglandular (p63− and SOX10+/−) and outer flat myoepithelial (p63+ and SOX10+) cells were observed. The inner ductoglandular tumour cells exhibited micropapillary projections and Roman bridging structures. No apparent atypical cells were observed. </span></span><em>NCOA4</em>::<em>RET</em> in Cases 1 and 3, <em>CCDC6</em>::<em>RET</em> in Case 2, and <em>SLC12A2</em>::<em>ALK</em><span> in Case 4 were revealed by next-generation sequencing or Sanger sequencing<span>. In contrast, control cases of classical hidrocystoma (Cases 5–9) did not show intracystic proliferation, abundant cytoplasm, ALK immunoreactivity, or </span></span><em>NCOA4</em>::<em>RET</em> detection in the tumour cells. <em>RET</em>/<em>ALK</em>-rearranged hidrocystoma-like tumours are tumour entities that can be distinguished from classical hidrocystoma. This <em>RET</em>/<em>ALK</em>-rearranged neoplasm is benign and is frequently observed in the digits. Future studies will establish the concept, detailed clinicopathological characteristics, and genetic variations of hidrocystoma-like tumours.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 865-873"},"PeriodicalIF":3.6,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141576834","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}