Journal of Clinical Pathology最新文献

{"title":"Unravelling switch/sucrose non-fermentable (SWI-SNF) complex-deficient thoracic tumours: a clinicopathological comparative on undifferentiated tumours and non-small cell lung carcinomas with BRG1 and BRM deficiency.","authors":"Ridhi Sood, Arshi Tandon, Warisa Khatoon, Jayashimman Vasanthraman, Aruna Nambirajan, Anant Mohan, Prabhat Singh Malik, Deepali Jain","doi":"10.1136/jcp-2024-209619","DOIUrl":"10.1136/jcp-2024-209619","url":null,"abstract":"<p><strong>Aims: </strong>This study was undertaken to compare and expand the clinicopathological characteristics of SMARCA4-deficient thoracic undifferentiated tumour (SMARCA4-dUT) and switch/sucrose non-fermentable-deficient non-small cell lung carcinomas (SWI/SNF-dNSCLC) and to address cases with intermediate features.</p><p><strong>Methods: </strong>The pathology department archive was searched for all primary mediastinal, pleural and lung-based malignancies that showed aberrant expression of two SWI/SNF proteins the Brahma (BRM) aka <i>SMARCA2</i> and/or (Brahma-related gene 1 (BRG1) aka <i>SMARCA4</i>. Patient demographics, treatment and clinical outcomes were collected from records and telephonic interviews. Differences in histopathological features and immunohistochemical stains were analysed. Cases with characteristics intermediate between both tumour entities were sequenced to advance our understanding of their biology and to assign them a more accurate classification.</p><p><strong>Results: </strong>We identified 50 tumours with SMARCA4 and/or SMARCA2 deficiencies, including 23 (46%) SMARCA4-dUT, 18 (36%) SMARCA4-dNSCLC and 2 (4%) SMARCA2-dNSCLC. Dyscohesive or undifferentiated cellular morphology versus frank gland formation along with keratin, claudin-4 and expression of >1 stem cell marker helped classify the SWI/SNF deficient tumours as SMARCA4-dUT or SWI/SNF-dNSCLC (p<0.05). Seven (14%) cases with BRG1 deficiency displayed 'intermediate' features of both SMARCA4-dNSCLC and SMARCA4-dUT and had the shortest overall survival. The smoking-related gene signature was observed on sequencing in all four cases examined.</p><p><strong>Conclusion: </strong>Tumours with intermediate features between SMARCA4-dUT and SWI/SNF-dNSCLC exist and portend an equally poor prognoses. Immunostains, including keratin, claudin-4, TTF1, HepPar1, stem cell markers, along with BRG1 and BRM testing, are essential adjuncts to morphology, while molecular studies can offer supplementary evidence in challenging cases.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"370-380"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583045","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}

{"title":"<i>9p24/JAK2</i> rearrangements in myeloid neoplasms: from myelodysplastic syndromes to myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions.","authors":"Federico Scarmozzino, Marco Pizzi, Ilaria Gianesello, Laura Bonaldi, Annalisa Martines, Nicolò Danesin, Simone Zoletto, Stefano Pravato, Barbara Cassani, Umberto Gianelli, Livio Trentin, Gianni Binotto, Angelo Paolo Dei Tos","doi":"10.1136/jcp-2024-209587","DOIUrl":"10.1136/jcp-2024-209587","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"426-428"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700521","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}

{"title":"Molecular profiling of visible polypoid and invisible conventional intestinal-type low-grade dysplasia in patients with idiopathic inflammatory bowel disease.","authors":"Alexander Christakis, Jonathan Nowak, Matthew J Hamilton, John R Goldblum, Paige Parrack, Neal I Lindeman, Robert Odze, Deepa T Patil","doi":"10.1136/jcp-2024-209601","DOIUrl":"10.1136/jcp-2024-209601","url":null,"abstract":"<p><strong>Aims: </strong>Little is known about the molecular features of visible polyps with low-grade intestinal-type dysplasia in patients with inflammatory bowel disease (IBD). To better understand their origins and biological potential, we sought to genomically profile these lesions and compare them with invisible low-grade dysplasia and sporadic adenomas from non-IBD patients.</p><p><strong>Methods: </strong>22 polyps within areas of colitis, 13 polyps outside areas of colitis, 10 foci of invisible dysplasia from patients with IBD and 6 sporadic tubular adenomas from non-IBD patients were analysed using the OncoPanel assay.</p><p><strong>Results: </strong>Polyps arising in areas of colitis showed a greater spectrum of mutations, including <i>APC</i>, <i>KRAS</i>, <i>FBXW7</i>, <i>TP53</i>, <i>ARID1A</i> and <i>TCF7L2</i>. Polyps outside colitis and non-IBD sporadic adenomas showed a limited mutational profile, with <i>APC</i> and <i>CTNNB1</i> mutations. Invisible dysplasia was characterised by <i>TP53</i>, <i>CTNNB1</i> and <i>KRAS</i> alterations. Compared with dysplastic polyps, none of the invisible dysplastic foci showed <i>APC</i> alterations (73%-within colitis; p=0.0001, 92%-outside colitis; p<0.0001, 83%-sporadic adenomas; p=0.001). <i>TP53</i> mutations were significantly higher in invisible dysplasia (50%) compared with polyps within colitis (9%; p=0.02) and outside colitis (8%; p=0.03).</p><p><strong>Conclusions: </strong>Molecular alterations in visible low-grade dysplastic polyps with conventional intestinal-type dysplasia from patients with IBD and sporadic adenomas from non-IBD patients overlap significantly. <i>APC</i> alterations appear to play a major role in the development of visible low-grade dysplastic lesions in patients with IBD, regardless of background colitis. As with IBD-associated colorectal cancers, <i>TP53</i> mutations are an early event in the development of invisible, low-grade conventional intestinal-type dysplasia in patients with IBD.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"416-425"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141419314","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}

{"title":"Real-time histological evaluation of gastrointestinal tissue using non-linear microscopy.","authors":"Haihui Liao, Timothy D Weber, Rachel Yixuan Tan, Jeffrey Liu, James G Fujimoto, Seymour Rosen, Yue Sun","doi":"10.1136/jcp-2024-210031","DOIUrl":"10.1136/jcp-2024-210031","url":null,"abstract":"<p><strong>Aim: </strong>Over the past several decades, optical sectioning technologies have emerged as valuable tools for evaluating tissue histology. Unlike conventional tissue sectioning, these technologies allow for real-time intraoperative assessments and more efficient tissue triage. In the era of digital pathology, the demand for high-quality, high-throughput optical sectioning platforms is increasing, as they eliminate the need for traditional slide preparation and scanning, potentially transforming anatomical pathology workflows. While non-linear microscopy (NLM) has demonstrated promise in histological evaluation across various tissue types, its application in gastrointestinal tissue assessment remains unexplored.</p><p><strong>Methods: </strong>This study extends the use of NLM to gastrointestinal histology and develops an image atlas to highlight its potential as an automated digital pathology platform.</p><p><strong>Results: </strong>Our results indicate that NLM generates diagnostic-quality images comparable to traditional H&E slides. Moreover, NLM provides valuable three-dimensional (3D) spatial information, improving clinical evaluations of key histological features such as depth of invasion, lymphovascular and perineural invasion, tumour budding and margin assessment. Time-lapse videos further demonstrate NLM's capability to capture 3D histological structures up to a depth of approximately 100 µm.</p><p><strong>Conclusion: </strong>Our findings demonstrate that NLM can serve as an optical sectioning platform for gastrointestinal histology, providing both diagnostic-quality imaging and advanced 3D visualisation. The introduction of an NLM-based atlas has the potential to redefine anatomical pathology workflows and advance digital pathology image analysis.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"364-369"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700524","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}

{"title":"Breast phyllodes tumour with epithelioid feature predisposes to malignant transformation.","authors":"Mumin Shao, Lu Zhang, Xia Li, Jiaxin Bi, Xu Jiang, Xuewen Yu, Yingying Liang, Hua Xu, Gang Meng, Xiyu Gong","doi":"10.1136/jcp-2024-209489","DOIUrl":"10.1136/jcp-2024-209489","url":null,"abstract":"<p><strong>Aims: </strong>Phyllodes tumours (PTs) are relatively common fibroepithelial tumours comprising epithelial and stromal component. Usually, PTs show a spindle cell morphology with a fibroblast phenotype, while some tumour cells exhibit epithelioid morphological features and sarcomatoid transformation. However, the molecular characteristics of this morphology subset remain unclear. This study aimed to summarise the clinicopathological, morphological and molecular characteristics of seven cases of PT with epithelioid features.</p><p><strong>Methods: </strong>Morphological and clinicopathological characteristics were observed and retrieved. Immunohistochemistry, immunofluorescence and electron microscope were performed on seven cases of epithelioid PT to explore immunophenotypic and ultrastructural characteristics. Transcriptomic and proteomic analyses were conducted to compare differentially expressed genes and proteins between epithelioid PT and classical PT.</p><p><strong>Results: </strong>Patients with epithelioid PT exhibit a high recurrence rate (42.8%). Morphologically, in addition to having epithelioid cytological features, neoplastic stromal cells exhibit moderate to marked atypia and often exhibit sarcomatoid transformation, similar to the characteristics of borderline PT. Transcriptomic and proteomic analyses demonstrated that epithelioid PTs are distinct from classical PTs in gene expression and protein abundance levels. Immunohistochemical analysis showed that among all differentially expressed proteins, epithelioid PT showed abnormal p16/retinoblastoma expression patterns, similar to those of malignant PT.</p><p><strong>Conclusions: </strong>Epithelioid PT has unique morphological characteristics, biological behaviour and protein expression profile, which meets the diagnostic criteria of borderline PT and is prone to sarcomatoid transformation. It may be a special morphological subgroup of borderline PT and has partial characteristics of malignant PT, which should be taken seriously in pathological diagnosis and clinical management.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"390-398"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142004376","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}

{"title":"Novel and unusual <i>USP6</i> fusion partners in aneurysmal bone cyst and their role in pathogenesis and histopathological evaluation of this disease.","authors":"Jan Balko, William Golas, Ludvik Kaspar, Lenka Krskova, Martina Strnadova, Johana Kotis, Josef Zamecnik","doi":"10.1136/jcp-2023-209306","DOIUrl":"10.1136/jcp-2023-209306","url":null,"abstract":"<p><strong>Aims: </strong>The purpose of this study is to report novel and unusual <i>USP6</i> fusion partners in aneurysmal bone cysts (ABCs). These findings may be useful in routine diagnostics as well as in studying the biology of <i>USP6</i>-related disorders.</p><p><strong>Methods: </strong>A cohort of seven patients diagnosed with ABC examined between 2014 and 2023 at Motol University Hospital in Prague was included into this retrospective non-randomised study. All cases were analysed using histopathological evaluation, immunohistochemistry and Anchored multiplex RNA methods. Demographic characteristics and clinical data were also analysed.</p><p><strong>Results: </strong>We identified two novel (<i>ZFX</i> and <i>IP6K2</i>), three unusual (<i>MEF2A, EIF1</i> and <i>COL1A2</i>) and two common (<i>CDH11</i>) fusion partners with <i>USP6</i> gene among all seven cases of ABC.</p><p><strong>Conclusions: </strong>Cases in our study were diagnosed as ABCs due to characteristic clinical and morphological presentation. However, not all cases are as self-evident, and molecular testing is necessary. The identification of these gene alterations can be useful in distinction between true ABC and ABC-like changes among many benign and malignant bone tumours.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"399-403"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140012680","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}

{"title":"IASLC grading system predicts distant metastases for resected lung adenocarcinoma.","authors":"Yuezhu Wang, Margaret R Smith, Caroline B Dixon, Ralph D'Agostino, Yin Liu, Jimmy Ruiz, Michael D Chan, Jing Su, Kathryn F Mileham, Thomas Lycan, Mary E Green, Omer A Hassan, Yuming Jiang, M Khalid Khan Niazi, Wencheng Li, Fei Xing","doi":"10.1136/jcp-2024-209649","DOIUrl":"10.1136/jcp-2024-209649","url":null,"abstract":"<p><strong>Aims: </strong>The International Association for the Study of Lung Cancer (IASLC) has proposed a new histological grading system for invasive lung adenocarcinoma (LUAD). However, the efficacy of this grading system in predicting distant metastases in patients with LUAD remains unexplored. This study aims to assess the potential of the IASLC grading system in predicting the occurrence of brain and bone metastases in patients with resectable LUAD, thereby identifying individuals at high risk of post-surgery distant metastasis.</p><p><strong>Methods: </strong>We retrospectively analysed clinical data and pathological reports of 174 patients with early-stage LUAD who underwent surgical resection between 2008 and 2015 at our cancer center. Patients were monitored for 5 years, and their bone and brain metastasis-free survival rates were determined.</p><p><strong>Results: </strong>28 out of 174 patients developed distant metastases in 5 years with a median overall survival of 60 months for metastasis-free patients and 38.3 months for patients with distant metastasis. Tumour grading of all samples was evaluated by both IASLC grading and predominant pattern-based grading systems. Receiver operating characteristic (ROC) curves were used to evaluate the predictive capabilities of the IASLC grading system and tumour stage for distant metastasis. Compared with the predominant pattern-based grading system, the IASLC grading system showed a better correlation with the incidence of distant metastasis and lymphovascular invasion. ROC analyses revealed that the IASLC grading system outperformed tumour stage in predicting distant metastasis.</p><p><strong>Conclusions: </strong>Our study indicates that the IASLC grading system is capable of predicting the incidence of distant metastasis among patients with early-stage invasive LUAD.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"409-415"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842614/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017622","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}

{"title":"Re-evaluating the relevance of extensive intraductal component (EIC) in modern breast cancer management.","authors":"Seyed Reza Taha, Fouad Boulos","doi":"10.1136/jcp-2024-209973","DOIUrl":"10.1136/jcp-2024-209973","url":null,"abstract":"<p><p>The concept of extensive intraductal component (EIC), currently defined by the presence of a prominent ductal carcinoma in situ (DCIS) component within an invasive tumor and extending beyond its margins, was introduced in the 1980s as a predictor of local recurrence following breast-conserving therapy for invasive breast carcinoma. At the time, surgical excision to negative margins was not the standard of care, making EIC a valuable tool for identifying patients at risk of recurrence. However, with modern oncologic and surgical advancements, its clinical relevance has diminished. Despite its continued inclusion as a mandatory entry in the CAP synoptic checklist, studies have shown that EIC does not independently predict local recurrence when margins are negative. Instead, objective parameters such as DCIS size and nuclear grade more accurately correlate with margin status and recurrence risk. While EIC may still be useful in preoperative biopsy assessments for evaluating disease extent among other things, its routine reporting in resection specimens appears less informative. Given its vague definition and limited prognostic value, we propose that EIC reporting should be discretionary rather than mandatory, with emphasis placed on more objective and clinically relevant metrics.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"361-363"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567335","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}

{"title":"Retraction: Estimation of associations between 10 common gene polymorphisms and gastric cancer: evidence from a meta-analysis.","authors":"","doi":"10.1136/jclinpath-2019-206189ret","DOIUrl":"10.1136/jclinpath-2019-206189ret","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"432"},"PeriodicalIF":2.5,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811590","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}

{"title":"CD31 expression in human cancers: a pan-cancer immunohistochemical study.","authors":"Ayumi Ito, Yukinobu Ito, Hiroko Ikeda, Masafumi Horie, Yasufumi Omori, Akiteru Goto, Daichi Maeda","doi":"10.1136/jcp-2024-210009","DOIUrl":"https://doi.org/10.1136/jcp-2024-210009","url":null,"abstract":"<p><strong>Aims: </strong>CD31 (platelet endothelial cell adhesion molecule 1) is a transmembrane glycoprotein involved in cell adhesion and signal transduction that is primarily expressed in vascular endothelial cells, platelets, neutrophils, and certain tumour cells. We investigated CD31 expression in cancer cells by conducting a pan-cancer gene expression analysis using data from cancer cell lines as well as an immunohistochemical analysis of surgically resected cancer specimens. The goal was to elucidate the frequency and distribution of CD31 expression across cancer types and its diagnostic significance.</p><p><strong>Methods: </strong>Gene expression data from 1073 cancer cell lines were analysed to determine the frequency of CD31 expression across different cancer types. Immunohistochemical analysis was performed on 358 resected cancer specimens, focusing on adenocarcinomas and squamous cell carcinomas. The analysis compared the frequency of CD31 expression among specific cancer subtypes and between histological types.</p><p><strong>Results: </strong>In gene expression analyses, adenocarcinomas showed a higher frequency of CD31 expression than did squamous cell carcinomas. Immunohistochemically, CD31 expression was observed in breast apocrine carcinomas (40.0%), hepatocellular carcinomas (18.8%), uterine endometrioid adenocarcinomas (31.6%), ovarian high-grade serous carcinomas (20.0%), ovarian clear cell carcinomas (40.0%) and urothelial carcinomas (25.0%). No CD31 expression was detected in oesophageal, renal, prostate or cervical cancers.</p><p><strong>Conclusions: </strong>CD31 expression is more frequent in adenocarcinomas than in squamous cell carcinomas, with variability among cancer subtypes. Recognising CD31-positive cancers is critical to avoid misdiagnosing them as endothelial-derived tumours. The mechanisms underlying CD31 expression in cancer remain unclear and warrant further investigation.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132450","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}