Journal of Clinical Pathology最新文献_第2页

Star of Paraform. 天台之星。

IF 2 4区医学

Journal of Clinical Pathology Pub Date : 2026-04-17 DOI: 10.1136/jcp-2025-210193

Sarah Ruane, Nichola Gaunt, Jonathan Shanks

引用次数: 0

Malignant transformation of fibrous dysplasia in long bones: a clinicopathological and molecular study of 19 cases. 长骨纤维发育不良恶变：19例临床病理及分子分析。

IF 2 4区医学

Journal of Clinical Pathology Pub Date : 2026-04-17 DOI: 10.1136/jcp-2025-210292

Rongfang Dong, Yi Ding, Yongbin Su, Zhiping Deng, Ran Gao, Lan Li, Tingting Zhang, Wen Zhang

{"title":"Malignant transformation of fibrous dysplasia in long bones: a clinicopathological and molecular study of 19 cases.","authors":"Rongfang Dong, Yi Ding, Yongbin Su, Zhiping Deng, Ran Gao, Lan Li, Tingting Zhang, Wen Zhang","doi":"10.1136/jcp-2025-210292","DOIUrl":"10.1136/jcp-2025-210292","url":null,"abstract":"Aims: Malignant transformation of fibrous dysplasia (FD) in long bones is very rare. This study aimed to explore its clinicopathological and molecular characteristics to reveal the diagnostic features and pathogenesis.Methods: We conducted a clinicopathological analysis of 19 FD-associated sarcomas. Sanger and next-generation sequencing were used to detect molecular alterations, and clinical, radiological and histopathological features were reviewed in detail.Results: The cohort consisted of 10 female and nine male patients (mean age, 48.4 years). Eleven patients had a previous diagnosis of FD, and eight patients presented de novo with acute symptoms like pain, swelling or dysfunction. Radiologically, in the monostotic cases (n=13), osteolytic lesions were observed with ill-defined margins, cortical destruction and soft tissue masses. Polyostotic cases (n=6) had both malignant masses and classic FD features of other skeletal sites. Histopathologically, osteosarcoma was the most common (57.9%), followed by undifferentiated pleomorphic sarcoma (26.3%), grade 2 spindle cell sarcoma (not otherwise specified, 5.3%) and low-grade central osteosarcoma (10.5%). Molecular analysis revealed identical GNAS mutations in paired FD and malignant components. Next-generation sequencing identified universal CDKN2A/B alterations (100%), along with concurrent TP53 (28.6%), TERT (28.6%) and KDM6A (28.6%) mutations, indicating a potential collaborative role in the FD malignant transformation process.Conclusions: Our analysis revealed unique clinicopathological characteristics and genetic markers in FD-associated sarcomas, deepening our knowledge of the mechanisms behind malignant transformation in FD and offering diagnostic tools for enhanced pathological assessment.","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"299-306"},"PeriodicalIF":2.0,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146219946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Microglandular adenosis, triple negative breast carcinoma and DNA repair defects. 微腺腺病，三阴性乳腺癌和DNA修复缺陷。

IF 2 4区医学

Journal of Clinical Pathology Pub Date : 2026-04-17 DOI: 10.1136/jcp-2025-210512

Mariel Bedell, Edaise M da Silva, Pier Selenica, Andrea M Gazzo, Juan Blanco Heredia, Thais Basili, Esther Elishaev, Lakshmi Harinath, Emilia Diego, Nishant Tageja, Britta Weigelt, Jorge S Reis-Filho, Rohit Bhargava

{"title":"Microglandular adenosis, triple negative breast carcinoma and DNA repair defects.","authors":"Mariel Bedell, Edaise M da Silva, Pier Selenica, Andrea M Gazzo, Juan Blanco Heredia, Thais Basili, Esther Elishaev, Lakshmi Harinath, Emilia Diego, Nishant Tageja, Britta Weigelt, Jorge S Reis-Filho, Rohit Bhargava","doi":"10.1136/jcp-2025-210512","DOIUrl":"10.1136/jcp-2025-210512","url":null,"abstract":"Aims: A subset of microglandular adenosis (MGA) displays protein expression and molecular genetic alterations similar to those of synchronous triple-negative breast carcinoma (TNBC), supporting the hypothesis that MGA is a non-obligate precursor lesion to a subset of breast carcinomas. Here, we further explore this association in the context of genomic instability.Methods: We use whole-genome sequencing to investigate the genetic landscape of two unusual cases of MGA associated with carcinoma in the setting of two distinct varieties of genomic instability.Results: The first case describes a patient with Lynch Syndrome developing a low-grade TNBC of the left breast with adenoid cystic-like and MGA-like growth patterns and a contralateral, right breast MGA. Both carcinoma and contralateral MGA showed loss of MSH2 and MSH6 proteins. Molecular studies identified somatic TP53 hotspot mutation only in carcinoma. A germline MSH2 mutation was detected in all samples, and somatic MSH2 pathogenic mutation was detected only in carcinoma components, while the contralateral MGA displayed loss-of-heterozygosity of the wild-type allele, indicating distinct mechanisms of biallelic inactivation of MSH2 between the samples. The second case consists of atypical MGA and associated high-grade TNBC arising in a setting of homologous recombination deficiency (HRD) with molecular signatures suggestive of BRCA2-like/HRD-associated mutational features in addition to shared TP53 alterations.Conclusions: Genomic instability, either due to mismatch repair protein deficiency or due to HRD, may play a role in MGA, MGA-associated carcinogenesis and distinct morphological patterns.","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"307-313"},"PeriodicalIF":2.0,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147348275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Accelerated chronic lymphocytic leukaemia shows distinctive lymphocyte morphology in peripheral blood smears. 加速慢性淋巴细胞白血病在外周血涂片上表现出独特的淋巴细胞形态。

IF 2 4区医学

Journal of Clinical Pathology Pub Date : 2026-04-17 DOI: 10.1136/jcp-2025-210410

Jonathan Aldinger, Kristy Wolniak, Juehua Gao, Yi-Hua Chen, Qing Ching Chen, Hamza Tariq

{"title":"Accelerated chronic lymphocytic leukaemia shows distinctive lymphocyte morphology in peripheral blood smears.","authors":"Jonathan Aldinger, Kristy Wolniak, Juehua Gao, Yi-Hua Chen, Qing Ching Chen, Hamza Tariq","doi":"10.1136/jcp-2025-210410","DOIUrl":"10.1136/jcp-2025-210410","url":null,"abstract":"Accelerated chronic lymphocytic leukaemia (A-CLL) is an aggressive variant of chronic lymphocytic leukaemia (CLL) characterised by distinct histologic features and a higher risk pathogenetic profile compared with conventional CLL (C-CLL). Although well recognised histologically, peripheral blood (PB) morphology of A-CLL is not well studied. In this study, we compared the PB lymphocyte morphology between 22 cases of biopsy-confirmed A-CLL and 60 cases of biopsy-confirmed C-CLL. PBs in A-CLL had a significantly lower percentage of typical CLL cells (mean: 51.28% vs 86.73%; p<0.001) and a higher percentage of classical prolymphocytes (12.11% vs 3.69%; p=0.021), non-classical prolymphocytes (17.48% vs 5.59%; p<0.001) and other atypical forms (cleaved, Downey-like and flower-shaped cells). Our data ties this distinct PB lymphocyte morphology in A-CLL with aggressive histology and a high-risk pathogenetic profile. Recognising the morphologic spectrum of PB lymphocytosis in A-CLL can facilitate earlier identification of this aggressive variant and help avoid misdiagnosis as other types of lymphoma/leukaemias.","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"356-360"},"PeriodicalIF":2.0,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145482304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Gastrointestinal stromal tumour with ETV6 rearrangement: a report of two cases and including a novel ETV6 and MOCS1/LRFN2 intergenic region fusion. 胃肠道间质瘤伴ETV6重排：2例报告，包括一种新的ETV6与MOCS1/LRFN2基因间区融合。

IF 2 4区医学

Journal of Clinical Pathology Pub Date : 2026-04-17 DOI: 10.1136/jcp-2025-210408

Yahan Zhang, Xin He, Min Chen, Hongying Zhang

引用次数: 0

Synchronous two-nodule hepatocellular carcinoma without satellite nodules is associated with better survival outcomes compared with satellite-nodule hepatocellular carcinoma. 无卫星结节的同步双结节肝细胞癌与卫星结节肝细胞癌相比具有更好的生存结果。

IF 2 4区医学

Journal of Clinical Pathology Pub Date : 2026-04-17 DOI: 10.1136/jcp-2025-210607

Yu-Han Wu, Yu-Fen Tseng, Yu-Jou Yang, Wei-Ting Hung, Yung-Ming Jeng

{"title":"Synchronous two-nodule hepatocellular carcinoma without satellite nodules is associated with better survival outcomes compared with satellite-nodule hepatocellular carcinoma.","authors":"Yu-Han Wu, Yu-Fen Tseng, Yu-Jou Yang, Wei-Ting Hung, Yung-Ming Jeng","doi":"10.1136/jcp-2025-210607","DOIUrl":"10.1136/jcp-2025-210607","url":null,"abstract":"Aims: Multifocal hepatocellular carcinoma (HCC) is traditionally classified as multicentric occurrence (MO) or intrahepatic metastasis, a distinction that is difficult to apply in routine practice and not reflected in current staging systems. We aimed to assess the prognostic significance of different multifocal HCC patterns using simple, clinically applicable criteria.Methods: We retrospectively analysed 153 patients with synchronous multifocal HCC who underwent surgical resection, including cases with two discrete nodules, more than two nodules and satellite nodules. 76 patients with solitary HCC served as controls. Histological classification based on Liver Cancer Study Group of Japan criteria was supplemented with TERT promoter mutation analysis in selected cases. Overall survival (OS) and recurrence-free survival (RFS) were evaluated using Kaplan-Meier and Cox regression analyses.Results: Histologic criteria alone failed to classify a substantial proportion of two-nodule HCCs. Although TERT promoter analysis allowed partial reclassification, patients with undetermined two-nodule HCC had survival outcomes comparable to those classified as MO. In contrast, HCCs with satellite nodules showed significantly poorer OS and RFS. Multivariate analysis identified microvascular invasion and the presence of satellite nodules-but not two-nodule multifocality-as independent adverse prognostic factors. Notably, patients with two discrete nodules without satellite lesions did not show a statistically significant difference in OS or RFS compared with those with solitary HCC.Conclusions: Synchronous two-nodule HCC without satellite nodules represents a prognostically favourable subgroup distinct from satellite-nodule HCC. A simplified morphology-based stratification may better reflect clinical outcomes in multifocal HCC.","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"332-339"},"PeriodicalIF":2.0,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146220012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Impact of concurrent autoimmune conditions on clinical outcomes and leukaemic transformation in chronic myelomonocytic leukaemia. 并发自身免疫性疾病对慢性髓细胞白血病临床结局和白血病转化的影响

IF 2 4区医学

Journal of Clinical Pathology Pub Date : 2026-04-17 DOI: 10.1136/jcp-2025-210517

Tarinee Rungjirajittranon, Ben Ponvilawan, Sanya Sukpanichnant, Weerapat Owattanapanich

{"title":"Impact of concurrent autoimmune conditions on clinical outcomes and leukaemic transformation in chronic myelomonocytic leukaemia.","authors":"Tarinee Rungjirajittranon, Ben Ponvilawan, Sanya Sukpanichnant, Weerapat Owattanapanich","doi":"10.1136/jcp-2025-210517","DOIUrl":"10.1136/jcp-2025-210517","url":null,"abstract":"Aims: Chronic myelomonocytic leukaemia (CMML) is a rare overlap syndrome between myelodysplastic neoplasms and myeloproliferative neoplasms. One distinct associated condition is systemic inflammatory and autoimmune disorders (SIADs).Methods: We conducted a retrospective cohort study of newly diagnosed CMML patients at our institution between January 2006 and December 2020, comparing those with and without SIADs. Clinical characteristics, laboratory findings, molecular profiles, survival outcomes and leukaemic transformation rates were analysed.Results: A total of 108 patients were included, of whom 26.9% had SIADs. Immune cytopenia was the most common SIAD, with 51.7% diagnosed concurrently with CMML. Most patients (93.5%) were classified as CMML-1, and 61.1% had the myeloproliferative phenotype. The most frequent mutation was TET2 (25.0%). Patients with SIADs showed a trend toward lower frequencies of ASXL1 (p=0.078) and NRAS (p=0.080) mutations. The median overall survival (OS) was 14.1 months, with a 1-year survival rate of 54%. The 1-year cumulative incidence of leukaemic transformation was 19.3%, and the 1-year leukaemia-free survival (LFS) rate was 49%. Patients with SIADs showed a trend towards longer OS (32.7 vs 9.9 months; p=0.058) and a significantly better LFS (32.7 vs 8.1 months; p=0.017). After adjusting for ASXL1 and NRAS mutations and haemoglobin <10 g/dL, SIADs remained protective against leukaemic transformation (HR, 0.13; p=0.038).Conclusions: SIADs occur in a substantial subset of CMML patients and are associated with significantly better LFS and reduced risk of leukaemic transformation, with a trend towards improved OS.Trial registration number: TCTR20210810003.","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"315-324"},"PeriodicalIF":2.0,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13151462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147355292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Mediastinal paravertebral Müllerian cyst identified in a male patient. 男性纵隔椎旁<s:1>勒氏囊肿一例。

IF 2 4区医学

Journal of Clinical Pathology Pub Date : 2026-04-17 DOI: 10.1136/jcp-2025-210214

Daiki Mihara, Mao Yoshikawa, Machiko Hotta, Masahiro Takatani, Hiroyuki Tao

引用次数: 0

Investigating tumour heterogeneity in a melanoma arising in congenital melanocytic nevus using in situ spatial gene expression analysis. 利用原位空间基因表达分析研究先天性黑素细胞痣中黑色素瘤的肿瘤异质性。

IF 2 4区医学

Journal of Clinical Pathology Pub Date : 2026-04-17 DOI: 10.1136/jcp-2025-210509

Jutapak Jenkitkonchai, Kittiporn Punuch, Teerapat Paringkarn, Teerapat Wannawittayapa, Manop Pithukpakorn, Panitta Sitthinamsuwan, Manasmon Chairatchaneeboon, Varodom Charoensawan

引用次数: 0

AI triage of duodenal biopsies improves workflow. 十二指肠活检的人工智能分诊改善了工作流程。

IF 2 4区医学

Journal of Clinical Pathology Pub Date : 2026-04-15 DOI: 10.1136/jcp-2026-210658

Frederick George Mayall, Charles Mayall, Ian Bodger, Henry Mayall

{"title":"AI triage of duodenal biopsies improves workflow.","authors":"Frederick George Mayall, Charles Mayall, Ian Bodger, Henry Mayall","doi":"10.1136/jcp-2026-210658","DOIUrl":"https://doi.org/10.1136/jcp-2026-210658","url":null,"abstract":"Aims: To develop, deploy and evaluate artificial intelligence (AI) for triaging duodenal biopsies within a National Health Service (NHS) histopathology laboratory, with the aim of improving reporting turnaround times for clinically significant diagnoses.Methods: The pathway was developed in the UK in an NHS laboratory. Rule-based automation software was used to find all newly scanned duodenal biopsy slides. Those with case numbers ending in an odd number were exported for AI triage and if they had significant AI predicted abnormalities they were prioritised for reporting. The cases with even numbers followed the routine reporting pathway.Results: 313 cases (517 duodenal slides) were processed by the routine pathway, and 329 cases (533 duodenal slides) were processed by the AI triage pathway. AI processing took about 70 s per slide. The AI classifier had a sensitivity and positive predictive value (PPV) as follows: normal small bowel: 99.6%, 95.7%; coeliac disease: 86.7%, 100%; gastric heterotopia: 84.6%, 95.7%; adenoma: 88.9%, 88.9%; adenocarcinoma: 50.0%, 100%. In the AI triage workstream coeliac disease, and non-neoplastic abnormalities as a group, were reported quicker than in the standard workstream (6 days vs 10 days and 7 days vs 10 days, respectively, both p<0.005), but neoplastic lesions were not reported quicker. The cost of deployment and operation was reasonable.Conclusions: An NHS histopathology laboratory successfully developed and implemented an AI-based triage system for duodenal biopsies, achieving high diagnostic accuracy and significantly improving turnaround times for coeliac disease and non-neoplastic abnormalities as a group. This study demonstrates the feasibility and clinical value of locally developed AI tools within routine diagnostic practice.","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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