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Primary disseminated varicella infection: a mimicry of cutaneous cytotoxic T-cell lymphoma 原发性弥散性水痘感染:皮肤细胞毒性t细胞淋巴瘤的模拟。
IF 3.6 3区 医学
Pathology Pub Date : 2025-03-04 DOI: 10.1016/j.pathol.2024.12.640
An Jian Leung , Siok-Bian Ng , Meiqi May Liau , Kong Bing Tan
{"title":"Primary disseminated varicella infection: a mimicry of cutaneous cytotoxic T-cell lymphoma","authors":"An Jian Leung , Siok-Bian Ng , Meiqi May Liau , Kong Bing Tan","doi":"10.1016/j.pathol.2024.12.640","DOIUrl":"10.1016/j.pathol.2024.12.640","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 4","pages":"Pages 530-532"},"PeriodicalIF":3.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796125","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
Recycled formalin: a new tool to mitigate the environmental impact of surgical pathology in routine practice 再生福尔马林:一种新的工具,以减轻外科病理在常规实践中的环境影响。
IF 3.6 3区 医学
Pathology Pub Date : 2025-03-04 DOI: 10.1016/j.pathol.2024.12.639
Anne Rullier , Samuel Amintas , Maxime Marques , Brigitte Le Bail , Geneviève Belleannée , Pierre Dubus , Rémi Vergara , Noelle Bernard
{"title":"Recycled formalin: a new tool to mitigate the environmental impact of surgical pathology in routine practice","authors":"Anne Rullier ,&nbsp;Samuel Amintas ,&nbsp;Maxime Marques ,&nbsp;Brigitte Le Bail ,&nbsp;Geneviève Belleannée ,&nbsp;Pierre Dubus ,&nbsp;Rémi Vergara ,&nbsp;Noelle Bernard","doi":"10.1016/j.pathol.2024.12.639","DOIUrl":"10.1016/j.pathol.2024.12.639","url":null,"abstract":"<div><div>Formalin is universally acknowledged as the gold standard for tissue fixation. However, it is a dangerous toxic chemical without any realistic substitute. Therefore, decreasing its use seems to be the only way to reduce its environmental impact. We assessed the feasibility of an innovative formalin recycling circuit based on the reuse of formalin following biopsy removal and paper filtration. We also assessed the efficiency of a policy of less formalin use in routine practice without compromising work quality and security. The recycled formalin was equivalent to new formalin in terms of its chemical and molecular properties, as well as the fixation, analysis, and storage of tissue samples. Moreover, its use for fixation did not affect molecular analyses. We calculate that our process would have decreased the total consumption of formalin in 2022 by 26% compared to 2021. This corresponds to financial savings of €4620, a 2434 kg CO<sub>2</sub> equivalent reduction in greenhouse gases, and substantial decreases in toxicity to humans and freshwater. Our recycled formalin circuit is a simple, easy-to-implement, efficient way to mitigate the environmental impact of formalin in surgical pathology without compromising the quality of analysis and the safety of the pathology staff.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 4","pages":"Pages 437-442"},"PeriodicalIF":3.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788744","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
Cost-benefit analysis of two quality control approaches for infectious disease testing. 传染病检测两种质量控制方法的成本效益分析。
IF 3.6 3区 医学
Pathology Pub Date : 2025-03-03 DOI: 10.1016/j.pathol.2025.01.002
Wayne Dimech, Patricia Mitchell, Giuseppe Vincini
{"title":"Cost-benefit analysis of two quality control approaches for infectious disease testing.","authors":"Wayne Dimech, Patricia Mitchell, Giuseppe Vincini","doi":"10.1016/j.pathol.2025.01.002","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.01.002","url":null,"abstract":"&lt;p&gt;&lt;p&gt;The traditional methods for monitoring quality control (QC) results of using the mean and standard deviation of 20 external QC results to establish acceptance criteria have been widely accepted in medical pathology. The use of Westgard rules to monitor assay performance has been used by clinical chemists for decades and is now applied to infectious disease testing. However, previous reports have indicated this approach creates frequent 'false rejections' leading to a waste of time and resources. This study evaluated the true cost of false rejections in a single laboratory by mapping the QC activities over a 5-month period. From January 2023 to May 2023 inclusive, a laboratory logged all QC results that failed Westgard rules using Bio-Rad Unity software. All activities arising from those QC failures were logged and the cost calculated in Australian dollars. The costs included the cost of reagents, external quality control (EQC), kit control and calibrators, and the staff time. As each laboratory has different pricing structures, certain assumptions were made. The laboratory used the traditional methods for patient result release. Over the same period, the EQC results were submitted to EDCNet software and subjected to National Serology Reference Laborator-developed QConnect Limits. At the end of the period, the outcomes of the traditional approach to EQC monitoring were compared with QConnect Limits. The senior scientist identified which QC rejections were 'true rejections'.Over the 5-month period, there were a total of 70 flags raised across 15 of the 23 test kits used on two different test platforms. All but one of the 70 episodes resulted in repeat testing of the EQC sample. On 17 occasions, the QC sample was tested more than three times. Recalibration of the assay occurred 12 times, and the results were referred to the senior scientist six times. The acceptance criteria for the EQC were re-set seven times. After ensuing investigations, only one of the 70 flags was deemed to be a 'real error' by the senior scientist. This was also detected by QConnect Limits. The cost of EQC flag investigations over the 5-month period was calculated to be just under $12,000 for 5 months. Extrapolating this to a 12-month period, the additional cost to the laboratory for EQC follow-up was estimated to be approximately $28,700 or about $2,400 per month. Delays in the release of patient results occurred in 42 of 70 episodes. In total, over the 5-month period, the accumulated delay in patients' reports was 68 h ​or 816 min per month. The use of traditional methods for the monitoring EQC is not fit for purpose of infectious disease testing. This is because frequent, normal reagent lot-to-lot variation is expected in serology tests. These changes cause frequent 'false rejections' if the acceptance criteria are too tight, as is the case when using 20 data points to establish limits. The consequences of false rejections are the waste of resources and staff time, ad","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743594","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
Overexpression of fibroblast activation protein (FAP) in the stroma of proliferative inflammatory atrophy (PIA) and primary adenocarcinoma of the prostate. 增生性炎性萎缩(PIA)和原发性前列腺腺癌间质中成纤维细胞激活蛋白(FAP)的过表达。
IF 3.6 3区 医学
Pathology Pub Date : 2025-03-01 DOI: 10.1016/j.pathol.2024.12.637
Fernanda Caramella-Pereira, Qizhi Zheng, Jessica L Hicks, Sujayita Roy, Tracy Jones, Martin Pomper, Lizamma Antony, Alan K Meeker, Srinivasan Yegnasubramanian, Angelo M De Marzo, W Nathaniel Brennen
{"title":"Overexpression of fibroblast activation protein (FAP) in the stroma of proliferative inflammatory atrophy (PIA) and primary adenocarcinoma of the prostate.","authors":"Fernanda Caramella-Pereira, Qizhi Zheng, Jessica L Hicks, Sujayita Roy, Tracy Jones, Martin Pomper, Lizamma Antony, Alan K Meeker, Srinivasan Yegnasubramanian, Angelo M De Marzo, W Nathaniel Brennen","doi":"10.1016/j.pathol.2024.12.637","DOIUrl":"10.1016/j.pathol.2024.12.637","url":null,"abstract":"<p><p>Fibroblast activation protein (FAP) is a serine protease upregulated at sites of tissue remodelling and cancer that represents a promising therapeutic and molecular imaging target. In prostate cancer, studies of FAP expression using tissue microarrays are conflicting, such that its clinical potential is unclear. Furthermore, little is known regarding FAP expression in benign prostatic tissues. Here we demonstrated, using a novel iterative multiplex immunohistochemistry assay in standard tissue sections, that FAP was nearly absent in normal regions ​but was increased consistently in regions of proliferative inflammatory atrophy (PIA). In carcinoma, FAP was expressed in all cases ​but was highly heterogeneous. High FAP levels were associated with increased pathological stage and cribriform morphology. We verified that FAP levels in cancer correlated with CD163+ M2 macrophage density. In this first report to quantify FAP protein in benign prostate and primary tumours, using standard large tissue sections, we clarify that FAP is present in all primary prostatic carcinomas, supporting its potential clinical relevance. The finding of high levels of FAP within PIA supports the injury/regeneration model for its pathogenesis and suggests that it harbours a protumourigenic stroma, yet ​high levels of FAP in benign regions could lead to false-positive FAP-based molecular imaging results in clinically localised prostate cancer.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788728","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
The implementation of an RNA-based gene fusion assay into a diagnostic oncology department: an Australian perspective. 基于rna的基因融合检测在诊断肿瘤科的实施:澳大利亚的观点。
IF 3.6 3区 医学
Pathology Pub Date : 2025-03-01 DOI: 10.1016/j.pathol.2024.12.638
Christopher R McEvoy, Catherine Mitchell, Owen W J Prall, Huiling Xu, Andrew P Fellowes, David Y Choong, Evangeline Buela, Roxane Legaie, Jiaan Yu, Richard Lupat, Christopher M Angel, Christine Khoo, Jia-Min Pang, Cameron Snell, Stephen B Fox, Jeremy Lewin
{"title":"The implementation of an RNA-based gene fusion assay into a diagnostic oncology department: an Australian perspective.","authors":"Christopher R McEvoy, Catherine Mitchell, Owen W J Prall, Huiling Xu, Andrew P Fellowes, David Y Choong, Evangeline Buela, Roxane Legaie, Jiaan Yu, Richard Lupat, Christopher M Angel, Christine Khoo, Jia-Min Pang, Cameron Snell, Stephen B Fox, Jeremy Lewin","doi":"10.1016/j.pathol.2024.12.638","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.12.638","url":null,"abstract":"<p><p>Accurate detection of oncogenic gene fusions is important for histological diagnosis of a subset of tumours. Some fusions are also the target of precision therapies. We describe our validation and early diagnostic results for the detection of fusions using the commercially available Illumina TruSight RNA Fusion Panel (TRFP) and the Arriba fusion detection algorithm. Retrospective validation showed that this assay demonstrated high accuracy (94% positive predictive agreement) for a wide variety of fusions. Prospective diagnostic data comprised a cohort of 131 clinical samples (102 mesenchymal tumours, 29 epithelial tumours), of which 80 were excisional specimens and 51 were small specimens, predominantly core biopsies. The test failure rate was 10.7%. We detected 64 (54.7%) clinically-actionable fusions in passed samples, including 12 (10.3%) that either changed or were critical for the diagnosis and 14 (12.0%) that were potentially therapeutically targetable. Most samples (89.7%) fulfilled criteria for partial reimbursement by the Australian Government Medical Benefits Scheme. In addition to describing the utility of an RNA-based fusion assay in cancer diagnostics, it is hoped that this study will provide practical advice for other laboratories considering introducing such a test.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743595","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 comparison of phenotypic methods to demonstrate penicillin susceptibility in Staphylococcus aureus. 金黄色葡萄球菌青霉素敏感性的表型方法比较。
IF 3.6 3区 医学
Pathology Pub Date : 2025-02-22 DOI: 10.1016/j.pathol.2024.12.636
Ravin Hettiarachchi, Julie Allerton, Christopher McIver, Dianne Rafferty, Peter Taylor, Robert Stevens
{"title":"A comparison of phenotypic methods to demonstrate penicillin susceptibility in Staphylococcus aureus.","authors":"Ravin Hettiarachchi, Julie Allerton, Christopher McIver, Dianne Rafferty, Peter Taylor, Robert Stevens","doi":"10.1016/j.pathol.2024.12.636","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.12.636","url":null,"abstract":"<p><p>The aim of this study was to assess the performance of phenotypic methods to demonstrate penicillin susceptibility in Staphylococcus aureus isolates using polymerase chain reaction (PCR) as a reference. A total of 126 S. aureus isolates were categorised as penicillin-susceptible S. aureus (PSSA), methicillin-susceptible S. aureus (MSSA) and methicillin-resistant S. aureus (MRSA) using blaZ and mecA PCR. The minimum inhibitory concentration (MIC) of penicillin for each isolate was determined by broth microdilution (BMD) and agar dilution (AD) methods. Qualitative susceptibility was determined by blinded disc diffusion testing using Calibrated Dichotomous Sensitivity (CDS), Clinical Laboratory Standards Institute (CLSI) and the European Committee on Antimicrobial Susceptibility Testing (EUCAST) methods. Categorical agreement (CA) rate, major error (ME) rate and very major error (VME) rate were calculated. These isolates were characterised into 66 PSSA, 38 MSSA and 22 MRSA by molecular testing. High rates of VME (9.6%) were encountered using BMD and AD, with 20% of penicillin-resistant S. aureus isolates having a penicillin MIC ≤0.125 mg/L. There was no VME using disc diffusion methods with high level of agreement of interpretation by three separate plate readers. CA rate using CLSI was 98.6% with 1.4% ME rate, for CDS CA rate was 97.6% with 2.4% ME rate, and for EUCAST CA rate was 93.8% with 6.2% ME rate. All methods improved with consensus reporting after considering interpretation by the plate readers. Laboratories can confidently report penicillin susceptibility in the majority of clinical S. aureus isolates based on disc diffusion testing using CLSI, EUCAST or CDS methodologies. Consensus reporting by independent plate readers may improve CA of disc diffusion testing. Penicillin MIC determination should not be used to demonstrate penicillin susceptibly in S. aureus isolates without confirmation by disc diffusion or molecular methods.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743572","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
The number of potential gateways determines prognostic value of tumour deposits in colon cancer. 潜在通道的数量决定了结肠癌肿瘤沉积物的预后价值。
IF 3.6 3区 医学
Pathology Pub Date : 2025-02-22 DOI: 10.1016/j.pathol.2024.12.635
Ayse Selcen Oguz Erdogan, Nelleke P M Brouwer, Valentina Angerilli, Natasja Rutgers, Gina Brown, Femke Simmer, Iris D Nagtegaal
{"title":"The number of potential gateways determines prognostic value of tumour deposits in colon cancer.","authors":"Ayse Selcen Oguz Erdogan, Nelleke P M Brouwer, Valentina Angerilli, Natasja Rutgers, Gina Brown, Femke Simmer, Iris D Nagtegaal","doi":"10.1016/j.pathol.2024.12.635","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.12.635","url":null,"abstract":"<p><p>Tumour deposits (TD) are a crucial biomarker in colorectal cancer, closely associated with nearby structures such as blood vessels, lymphatic vessels, and peripheral nerves. These anatomical structures serve as pathways that facilitate the spread of tumour cells throughout the body. This study aims to investigate how TD access these anatomical gateways and how these variations impact patient survival. We analysed colon carcinoma patients who underwent surgery at Radboud University Medical Centre between 1986 and 2012 for the presence of TD. Using serial sections and immunohistochemistry with four different antibodies (CD34, D2-40, S100, and elastic van Gieson), we examined the presence and distribution of TD access to surrounding anatomical structures, including blood vessels, lymphatic vessels and peripheral nerves. In 127 patients, 280 TD were examined. Of these, 112 TD (40%) had multiple access points, 109 TD (39%) had a single access point, and 59 TD (21%) had no discernible access point. More than half of the TD (57%) demonstrated haematovascular invasion. Patients with TD featuring a single access point had a better prognosis compared to those with multiple access points (5-year overall survival, p=0.025; 5-year disease-free survival, p=0.005). TD are a heterogeneous biomarker characterised by various access points, with haematovascular invasion being the most common. Our study highlights a direct correlation between the number of TD access points and patient outcomes, indicating that an increase in access points is linked to a poorer prognosis.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658130","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
Progression to invasive carcinoma: cellular activities and immune-related pathways define the lepidic and acinar subtypes of lung adenocarcinoma. 发展为浸润性癌:细胞活动和免疫相关途径决定了肺腺癌的鳞状亚型和尖状亚型。
IF 3.6 3区 医学
Pathology Pub Date : 2025-02-22 DOI: 10.1016/j.pathol.2025.01.001
Ethan N Okoshi, Shiro Fujita, Kris Lami, Yuka Kitamura, Ryuta Matsuda, Andrey Bychkov, Takuro Miyazaki, Keitaro Matsumoto, Takeshi Nagayasu, Junya Fukuoka
{"title":"Progression to invasive carcinoma: cellular activities and immune-related pathways define the lepidic and acinar subtypes of lung adenocarcinoma.","authors":"Ethan N Okoshi, Shiro Fujita, Kris Lami, Yuka Kitamura, Ryuta Matsuda, Andrey Bychkov, Takuro Miyazaki, Keitaro Matsumoto, Takeshi Nagayasu, Junya Fukuoka","doi":"10.1016/j.pathol.2025.01.001","DOIUrl":"https://doi.org/10.1016/j.pathol.2025.01.001","url":null,"abstract":"<p><p>Lung adenocarcinoma (LUAD) is the most frequent subtype of thoracic malignancy, which is itself the largest contributor to cancer mortality. The lepidic subtype is a non-invasive tumour morphology, whereas the acinar subtype represents one of the invasive morphologies. This study investigates the transition from a non-invasive to an invasive subtype in the context of LUAD. Patients with pathologically confirmed mixed subtype LUAD consented to analysis of RNA sequencing data extracted from each subtype area separately. The study included 17 patients with tumours found to exhibit a lepidic-acinar transition. Eighty-seven genes were found to be differentially expressed between the lepidic and acinar subtypes, with 44 genes significantly upregulated in lepidic samples ​and 43 genes significantly upregulated in acinar samples. Gene Ontology analysis showed that many of the genes upregulated in the acinar subtype were related to immune response, whereas for the lepidic subtype, genes responsible for cellular activities were upregulated. Immune deconvolution analysis showed that there was a significantly higher proportion of M1 macrophages and total B cells in acinar areas. Immunohistochemistry showed that B cells were mainly localised to tertiary lymphoid structures in the tumour area. This is the first study to investigate the molecular features of mixed subtype lepidic-acinar transitional tumours. Immunological dynamics are presumed to be involved in this transition from lepidic to acinar subtype. Further research should be conducted to elucidate the progression of disease from non-invasive to invasive morphologies.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812111","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
Frequent PIK3CA and GNAQ mutations in solitary pulmonary capillary haemangioma and pulmonary cavernous haemangioma: genetic link to vascular malformations. 孤立性肺毛细血管瘤和肺海绵状血管瘤中PIK3CA和GNAQ的频繁突变:与血管畸形的遗传联系
IF 3.6 3区 医学
Pathology Pub Date : 2025-02-20 DOI: 10.1016/j.pathol.2024.11.016
Yi-Chen Yeh, Ping-Yuan Chu, Chia-I Lin, Shu-Ying Wang, Shin-Ying Lin, Hsiang-Ling Ho, Min-Shu Hsieh
{"title":"Frequent PIK3CA and GNAQ mutations in solitary pulmonary capillary haemangioma and pulmonary cavernous haemangioma: genetic link to vascular malformations.","authors":"Yi-Chen Yeh, Ping-Yuan Chu, Chia-I Lin, Shu-Ying Wang, Shin-Ying Lin, Hsiang-Ling Ho, Min-Shu Hsieh","doi":"10.1016/j.pathol.2024.11.016","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.11.016","url":null,"abstract":"<p><p>Pulmonary haemangiomas are rare diseases with unclear pathogenesis. The molecular alterations underlying these conditions have not yet been identified. In this study, we sought to investigate the genetic alterations in the two most common types of pulmonary haemangiomas: solitary pulmonary capillary haemangiomas (SPCH) and pulmonary cavernous haemangiomas. This study included six patients with SPCH and four patients with pulmonary cavernous haemangioma. Utilising a customised next-generation sequencing panel, we identified a high frequency of PIK3CA hotspot mutations-five of six SPCH cases and three of four pulmonary cavernous haemangiomas, totalling 80%. Additionally, GNAQ mutations were detected in one SPCH and one pulmonary cavernous haemangioma. Overall, nine of 10 (90%) of the pulmonary haemangiomas in our study harboured mutations in either the PIK3CA or GNAQ genes. The variant allele frequencies of these mutations were relatively low, ranging from 4.2% to 15.5%, which complicates detection using Sanger sequencing due to its lower sensitivity. Our study identified a high frequency of PIK3CA mutations and occasional GNAQ mutations in SPCH and pulmonary cavernous haemangioma. The high prevalence of PIK3CA mutations in pulmonary haemangiomas suggests a potential link to the vascular malformation category in the International Society for the Study of Vascular Anomalies (ISSVA) classification where PIK3CA mutations are recognised as significant causative genetic events. The findings from this research represent the first documented evidence of the molecular alterations underlying these pulmonary haemangiomas.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743580","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
Molecular testing of lung cancer in Australia: consensus best practice recommendations from the Royal College of Pathologists of Australasia in collaboration with the Thoracic Oncology Group of Australasia 澳大利亚肺癌分子检测:澳大拉西亚皇家病理学家学院与澳大拉西亚胸部肿瘤学小组合作的共识最佳实践建议。
IF 3.6 3区 医学
Pathology Pub Date : 2025-02-14 DOI: 10.1016/j.pathol.2025.02.001
Wendy A. Cooper , Benhur Amanuel , Caroline Cooper , Stephen B. Fox , Jon W.A. Graftdyk , Peter Jessup , Sonja Klebe , Wei-Sen Lam , Trishe Y-M. Leong , Zarnie Lwin , Rachel Roberts-Thomson , Benjamin J. Solomon , Rebecca Y. Tay , Rebecca Trowman , Janney L. Wale , Nick Pavlakis
{"title":"Molecular testing of lung cancer in Australia: consensus best practice recommendations from the Royal College of Pathologists of Australasia in collaboration with the Thoracic Oncology Group of Australasia","authors":"Wendy A. Cooper ,&nbsp;Benhur Amanuel ,&nbsp;Caroline Cooper ,&nbsp;Stephen B. Fox ,&nbsp;Jon W.A. Graftdyk ,&nbsp;Peter Jessup ,&nbsp;Sonja Klebe ,&nbsp;Wei-Sen Lam ,&nbsp;Trishe Y-M. Leong ,&nbsp;Zarnie Lwin ,&nbsp;Rachel Roberts-Thomson ,&nbsp;Benjamin J. Solomon ,&nbsp;Rebecca Y. Tay ,&nbsp;Rebecca Trowman ,&nbsp;Janney L. Wale ,&nbsp;Nick Pavlakis","doi":"10.1016/j.pathol.2025.02.001","DOIUrl":"10.1016/j.pathol.2025.02.001","url":null,"abstract":"<div><div>Molecular testing plays a critical role in guiding optimal treatment decisions for lung cancer patients across a variety of clinical settings. While guidelines for biomarker testing exist in other jurisdictions, to date no best practice guidelines have been developed for the Australian setting. To address this need, the Royal College of Pathologists of Australasia collaborated with the Thoracic Oncology Group of Australasia to identify state-based pathologists, oncologists and consumer representatives to develop consensus best practice recommendations. Sixteen recommendations were established encompassing appropriate biomarkers, lung cancer subtype, tumour stage, specimen types, assay selection and quality assurance protocols that can inform and standardise best practice in molecular testing of lung cancer. These multidisciplinary evidence-based recommendations are designed to standardise and enhance molecular testing practices for lung cancers and should help ensure laboratories provide high-quality molecular testing of lung cancer for all Australians, including those from regional or remote communities.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 4","pages":"Pages 425-436"},"PeriodicalIF":3.6,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658129","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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