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Spilled gallstones: an unusual mimic of adenocarcinoma in a urachal remnant 胆结石外溢:一种罕见的模仿腺癌的尿路残余
IF 3 3区 医学 Q1 PATHOLOGY Pub Date : 2026-02-01 Epub Date: 2026-02-20 DOI: 10.1016/j.pathol.2026.01.093
Paul McGreal, Mark Dagger
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引用次数: 0
Histopathological associations, molecular findings and clinical outcomes of patients with non-small cell lung carcinoma with MET alterations: a 3-year retrospective Australian case series 非小细胞肺癌MET改变患者的组织病理学关联、分子表现和临床结果:澳大利亚3年回顾性病例系列
IF 3 3区 医学 Q1 PATHOLOGY Pub Date : 2026-02-01 Epub Date: 2025-10-24 DOI: 10.1016/j.pathol.2025.07.009
Jing Jing Li , Jawad Saab , Victoria Bray , Jonathan Williamson , Abhijit Pal , Po Yee Yip , Pei Ding , Shalini K. Vinod , Bruce French , Chee Lee , Ruta Gupta , Wendy A. Cooper , Bin Wang , C. Soon Lee
MET exon 14 skipping mutation (METex14) is a key oncogenic driver in 2% of non-small cell lung carcinoma (NSCLC) and is enriched in sarcomatoid carcinoma (SAC). However, the prevalence and significance of METex14 NSCLC in the Australian population is not known. We evaluated the incidence, clinical, molecular, and histopathological features of METex14 and SAC cases in an Australian tertiary referral centre. We retrospectively analysed clinical, molecular, histopathological, and immunohistochemical data of NSCLC cases undergoing DNA and/or RNA fusion panel next-generation sequencing (NGS) between 1 July 2021 and 15 May 2024. Among 1267 NSCLC, 880 (69%) cases had DNA NGS only, 359 (28%) cases had both DNA NGS and RNA fusion panel, and 28 (2%) cases had RNA fusion panel only. Overall, 29 (2.3%) cases had METex14, 14 (1.1%) had MET amplification, and 10 (0.8%) had MET R988C. Of the 29 METex14 patients, 15 (52%) were women and 14 (48%) were men. METex14 patients were older than those who were MET wild-type, or with EGFR or KRAS mutations (median age 76 vs 71, 69, and 71, respectively) and were less likely to be smokers than KRAS-mutated cases (58% vs 92%, p<0.0001). Most METex14 cases were adenocarcinomas (76%), with 14% classified as SAC. Programmed death-ligand 1 (PD-L1) expression was higher in METex14 than in EGFR-mutated cases. Median survival for METex14 patients was 26 months (stage I), not reached (stage II), 8 months (stage III), and 3.5 months (stage IV). Among 28 SAC cases, 57% harboured oncogenic mutations, including KRAS (18%), METex14 (14%), BRAF V600E (7%), and EGFR exon 19 deletion (4%). SAC exhibited significantly higher PD-L1 expression (mean tumour proportion score 71 vs 30, p<0.0001) and a greater proportion of high PD-L1 expressors (82% vs 30%, p<0.0001) than other NSCLC subtypes. Stage IV SAC patients had a median survival of only 2 months. In summary, in our cohort of NSCLC, METex14 mutation was found in 2% of cases using DNA NGS alone ​and up to 3% when both DNA NGS and RNA fusion panel testing were employed. METex14 mutations were more common in elderly patients, with an equal gender distribution and a high proportion of non-smokers. While most cases were adenocarcinomas, SAC was enriched for METex14. SAC was an aggressive NSCLC subtype, with KRAS and METex14 as the most common driver mutations. Given the high prevalence of PD-L1 expression in SAC, further research on immunotherapy efficacy in this group is warranted.
MET外显子14跳变(METex14)在2%的非小细胞肺癌(NSCLC)中是一个关键的致癌驱动因素,并且在肉瘤样癌(SAC)中富集。然而,澳大利亚人群中METex14 NSCLC的患病率和意义尚不清楚。我们评估了澳大利亚三级转诊中心的METex14和SAC病例的发病率、临床、分子和组织病理学特征。我们回顾性分析了2021年7月1日至2024年5月15日期间接受DNA和/或RNA融合面板下一代测序(NGS)的NSCLC病例的临床、分子、组织病理学和免疫组织化学数据。1267例NSCLC中,仅DNA NGS 880例(69%),DNA NGS和RNA融合板359例(28%),RNA融合板28例(2%)。总体而言,29例(2.3%)有METex14, 14例(1.1%)有MET扩增,10例(0.8%)有MET R988C。29例METex14患者中,15例(52%)为女性,14例(48%)为男性。METex14患者比MET野生型、EGFR或KRAS突变患者年龄更大(中位年龄分别为76岁对71岁、69岁和71岁),吸烟的可能性低于KRAS突变患者(58%对92%,p
{"title":"Histopathological associations, molecular findings and clinical outcomes of patients with non-small cell lung carcinoma with MET alterations: a 3-year retrospective Australian case series","authors":"Jing Jing Li ,&nbsp;Jawad Saab ,&nbsp;Victoria Bray ,&nbsp;Jonathan Williamson ,&nbsp;Abhijit Pal ,&nbsp;Po Yee Yip ,&nbsp;Pei Ding ,&nbsp;Shalini K. Vinod ,&nbsp;Bruce French ,&nbsp;Chee Lee ,&nbsp;Ruta Gupta ,&nbsp;Wendy A. Cooper ,&nbsp;Bin Wang ,&nbsp;C. Soon Lee","doi":"10.1016/j.pathol.2025.07.009","DOIUrl":"10.1016/j.pathol.2025.07.009","url":null,"abstract":"<div><div><em>MET</em> exon 14 skipping mutation (<em>MET</em>ex14) is a key oncogenic driver in 2% of non-small cell lung carcinoma (NSCLC) and is enriched in sarcomatoid carcinoma (SAC). However, the prevalence and significance of <em>MET</em>ex14 NSCLC in the Australian population is not known. We evaluated the incidence, clinical, molecular, and histopathological features of <em>MET</em>ex14 and SAC cases in an Australian tertiary referral centre. We retrospectively analysed clinical, molecular, histopathological, and immunohistochemical data of NSCLC cases undergoing DNA and/or RNA fusion panel next-generation sequencing (NGS) between 1 July 2021 and 15 May 2024. Among 1267 NSCLC, 880 (69%) cases had DNA NGS only, 359 (28%) cases had both DNA NGS and RNA fusion panel, and 28 (2%) cases had RNA fusion panel only. Overall, 29 (2.3%) cases had <em>MET</em>ex14, 14 (1.1%) had <em>MET</em> amplification, and 10 (0.8%) had <em>MET</em> R988C. Of the 29 <em>MET</em>ex14 patients, 15 (52%) were women and 14 (48%) were men. <em>MET</em>ex14 patients were older than those who were <em>MET</em> wild-type, or with <em>EGFR</em> or <em>KRAS</em> mutations (median age 76 vs 71, 69, and 71, respectively) and were less likely to be smokers than <em>KRAS</em>-mutated cases (58% vs 92%, <em>p</em>&lt;0.0001). Most <em>MET</em>ex14 cases were adenocarcinomas (76%), with 14% classified as SAC. Programmed death-ligand 1 (PD-L1) expression was higher in <em>MET</em>ex14 than in <em>EGFR</em>-mutated cases. Median survival for <em>MET</em>ex14 patients was 26 months (stage I), not reached (stage II), 8 months (stage III), and 3.5 months (stage IV). Among 28 SAC cases, 57% harboured oncogenic mutations, including <em>KRAS</em> (18%), <em>MET</em>ex14 (14%), <em>BRAF</em> V600E (7%), and <em>EGFR</em> exon 19 deletion (4%). SAC exhibited significantly higher PD-L1 expression (mean tumour proportion score 71 vs 30, <em>p</em>&lt;0.0001) and a greater proportion of high PD-L1 expressors (82% vs 30%, <em>p</em>&lt;0.0001) than other NSCLC subtypes. Stage IV SAC patients had a median survival of only 2 months. In summary, in our cohort of NSCLC, <em>MET</em>ex14 mutation was found in 2% of cases using DNA NGS alone ​and up to 3% when both DNA NGS and RNA fusion panel testing were employed. <em>MET</em>ex14 mutations were more common in elderly patients, with an equal gender distribution and a high proportion of non-smokers. While most cases were adenocarcinomas, SAC was enriched for <em>MET</em>ex14. SAC was an aggressive NSCLC subtype, with <em>KRAS</em> and <em>MET</em>ex14 as the most common driver mutations. Given the high prevalence of PD-L1 expression in SAC, further research on immunotherapy efficacy in this group is warranted.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 1","pages":"Pages 41-51"},"PeriodicalIF":3.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145557336","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 value of a second expert opinion in histopathological diagnosis of bone and soft tissue sarcoma: a systematic review 第二专家意见在骨和软组织肉瘤组织病理学诊断中的价值:系统综述。
IF 3 3区 医学 Q1 PATHOLOGY Pub Date : 2026-02-01 Epub Date: 2025-11-17 DOI: 10.1016/j.pathol.2025.09.005
Jennifer Vu , Claudia Petrucco , Cristina Vargas , Susie Bae , Richard Carey Smith , Jayesh Desai , Andrew Johnston , Marianne Phillips , Stephen Thompson , Smaro Lazarakis , Jasmine Mar , Angela M. Hong , Fiona Maclean
Accurate subtype diagnosis of sarcoma is crucial for optimal patient management, requiring integration of clinical, radiological, morphological, immunohistochemical, and molecular findings. This systematic review examines the value of expert second opinions in the histopathological diagnosis of bone and soft tissue sarcomas. The review was conducted using the population, intervention, comparison, and outcome model over a 32-year timeframe. Notably, five studies reported major discrepancy rates exceeding 20%, impacting patient management or prognosis. Given these findings, we recommend referring all suspected sarcoma cases to specialised sarcoma centres for expert second opinions to ensure accurate diagnosis and optimal care. While all studies broadly addressed diagnostic discrepancy during second opinion review, there were difficulties in comparing the data from various studies. These difficulties related to the lack of standardised definitions of what constitutes (1) a second opinion, (2) a specialist pathologist in sarcoma, and (3) a discordant diagnosis.
准确的肉瘤亚型诊断对于优化患者管理至关重要,需要综合临床、放射学、形态学、免疫组织化学和分子检查结果。这篇系统的综述检查了专家第二意见在骨和软组织肉瘤的组织病理学诊断中的价值。本综述采用32年的人口、干预、比较和结果模型进行。值得注意的是,五项研究报告的主要差异率超过20%,影响了患者的管理或预后。鉴于这些发现,我们建议所有疑似肉瘤病例转诊到专门的肉瘤中心接受专家的第二意见,以确保准确的诊断和最佳的治疗。虽然所有的研究都在第二意见审查中广泛地解决了诊断差异,但比较不同研究的数据存在困难。这些困难与以下内容缺乏标准化定义有关:(1)第二意见,(2)肉瘤的专业病理学家,(3)不一致的诊断。
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引用次数: 0
Mycobacterium genavense duodenitis with iron deficiency anaemia in new diagnosis of acquired immunodeficiency syndrome genavense分枝杆菌十二指肠炎合并缺铁性贫血在获得性免疫缺陷综合征中的新诊断。
IF 3 3区 医学 Q1 PATHOLOGY Pub Date : 2026-02-01 Epub Date: 2025-09-30 DOI: 10.1016/j.pathol.2025.07.005
Alexander Youssef , Shirin Salimi , Wendy Cooper , Lisa Horgan , Ken Liu
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引用次数: 0
A contemporary analysis of solid-phase antiphospholipid antibody testing: implications for classification or diagnosis of antiphospholipid syndrome 固相抗磷脂抗体检测的当代分析:对抗磷脂综合征的分类或诊断的意义。
IF 3 3区 医学 Q1 PATHOLOGY Pub Date : 2026-02-01 Epub Date: 2025-10-01 DOI: 10.1016/j.pathol.2025.07.003
Caitlin Thirunavukarasu , Leonardo Pasalic , Emmanuel J. Favaloro
Antiphospholipid antibody (aPL) testing is required for diagnosis of antiphospholipid syndrome (APS). Although they have different uses, clinicians sometimes (inappropriately) use APS classification criteria as diagnostic criteria. We evaluated interlaboratory performance of testing for anticardiolipin (aCL) and anti-beta-2-glycoprotein (aβ2GPI) from participants of the Royal College of Pathologists of Australasia Quality Assurance Programs Immunology program over the last 3 years, from information in the final reports. We analysed data for aCL immunoglobulin (Ig)G, aCL IgM and aβ2GPI IgG testing, as representing the main aPL assays. These were assessed according to reagent type and subtyped into enzyme-linked immunosorbent assay (ELISA) versus non-ELISA solid-phase assays. We assessed results for interlaboratory consensus regarding aPL-positive versus aPL-negative samples and quantitative data, including mean, median, coefficient of variation (CV), and standard deviation. Universal consensus was only achieved in approximately one-third (39%) of samples over the reporting period, while 80% participant agreement occurred in 87.5% of tests overall, with results comparable between analytes (22/24=92% IgG aCL; 19/24=79% IgM aCL; 22/24=92% IgG aβ2GPI). CVs were often above 50% for aPL-positive samples for most ELISA assays, but often <20% for non-ELISA methods, with the poorest overall harmonisation for aCL IgM testing. There was an emerging trend for reduced usage of ELISA-based assays, with currently fewer than 25% of participants using these assays. In conclusion, variability persists in the reporting of aCL and aβ2GPI, with limited consensus and an emerging trend to uptake of non-ELISA solid-phase reagents, with reduced CV trends, highlighting the disconnect between APS classification and diagnostic criteria. Further harmonisation of solid-phase testing for real-world diagnostic applications is also required.
抗磷脂抗体(aPL)检测是诊断抗磷脂综合征(APS)的必要条件。尽管它们有不同的用途,临床医生有时(不恰当地)使用APS分类标准作为诊断标准。我们根据最终报告中的信息,评估了过去3年来澳大拉西亚皇家病理学院质量保证计划免疫学项目参与者的抗心磷脂(aCL)和抗β -2糖蛋白(a - β 2gpi)的实验室间检测性能。我们分析了aCL免疫球蛋白(Ig)G、aCL IgM和a - β 2gpi IgG检测数据,作为主要的aPL检测。根据试剂类型和酶联免疫吸附测定法(ELISA)与非ELISA固相测定法的亚型进行评估。我们评估了apl阳性与apl阴性样本的实验室间共识结果和定量数据,包括平均值、中位数、变异系数(CV)和标准差。在报告期内,只有大约三分之一(39%)的样本达成了普遍共识,而80%的参与者在87.5%的测试中达成了一致,分析物之间的结果具有可比性(22/24=92% IgG aCL; 19/24=79% IgM aCL; 22/24=92% IgG aβ2GPI)。大多数酶联免疫吸附试验中,apl阳性样品的CVs值通常在50%以上
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引用次数: 0
Atypical presentation of gastrointestinal adenocarcinoma: a rare and ominous intracranial presentation 胃肠道腺癌的不典型表现:一种罕见且不祥的颅内表现
IF 3 3区 医学 Q1 PATHOLOGY Pub Date : 2026-02-01 Epub Date: 2026-02-20 DOI: 10.1016/j.pathol.2026.01.075
Ashley Cha Yin Lim, David Wong
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引用次数: 0
Superficial mucosal gastric amyloidosis: an unusual pattern 浅表粘膜胃淀粉样变:一种不寻常的类型
IF 3 3区 医学 Q1 PATHOLOGY Pub Date : 2026-02-01 Epub Date: 2026-02-20 DOI: 10.1016/j.pathol.2026.01.060
Sulagna Gupta, Khalid Jaber, Stephen Peyton
{"title":"Superficial mucosal gastric amyloidosis: an unusual pattern","authors":"Sulagna Gupta,&nbsp;Khalid Jaber,&nbsp;Stephen Peyton","doi":"10.1016/j.pathol.2026.01.060","DOIUrl":"10.1016/j.pathol.2026.01.060","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 ","pages":"Page S13"},"PeriodicalIF":3.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147394660","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
Ink-ognito: tattoo pigment in a lymph node mimicking calcification on mammography 墨迹:乳房x光检查中淋巴结中模仿钙化的纹身色素
IF 3 3区 医学 Q1 PATHOLOGY Pub Date : 2026-02-01 Epub Date: 2026-02-20 DOI: 10.1016/j.pathol.2026.01.100
Eimhear Mulhare, Sam Harding-Forrester, Donna Lenghaus
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引用次数: 0
Stafne’s bone defect: a case report 斯塔芬的骨缺损:一个病例报告
IF 3 3区 医学 Q1 PATHOLOGY Pub Date : 2026-02-01 Epub Date: 2026-02-20 DOI: 10.1016/j.pathol.2026.01.068
Jami Jarvis, Archana Sudarsan
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引用次数: 0
Phosphaturic mesenchymal tumour with malignant transformation: a rare case report 磷化间充质瘤伴恶性转化1例
IF 3 3区 医学 Q1 PATHOLOGY Pub Date : 2026-02-01 Epub Date: 2026-02-20 DOI: 10.1016/j.pathol.2026.01.066
Yuchen Hu , Kathleen Soeyland , Antony Kaufman
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引用次数: 0
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Pathology
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