Journal of Clinical Pathology最新文献

{"title":"Clinical utility of 'Shaken' biopsies for whole-genome sequencing.","authors":"Rachel Nelan, Martina Mijuskovic, Martina Hughes, Jennifer Becq, Zoya Kingsbury, Eleni Tsogka, Miao He, Dunja Vucenovic, Clare Craig, Greg Elgar, Pauline Levey, Tamara Suaris, Emma Walsh, Mark Ross, J Louise Jones","doi":"10.1136/jcp-2024-209781","DOIUrl":"https://doi.org/10.1136/jcp-2024-209781","url":null,"abstract":"<p><strong>Aims: </strong>Whole-genome sequencing (WGS) is beginning to be applied to cancer samples in the clinical setting. This ideally requires high-quality, minimally degraded DNA of high tumour cell content, while retaining sufficient tissue with excellent morphology for histopathological diagnosis and immunohistochemistry. The aim of this study was to investigate alternative ways of handling cancer samples to fulfil both diagnostic and molecular requirements.</p><p><strong>Methods: </strong>Ex vivo biopsies were taken to investigate the feasibility of using cancer cells 'shaken' from the surface of a biopsy for WGS, while maintaining the tissue biopsy for histological diagnosis. WGS from the shaken cells was compared with the gold standard of a fresh-frozen (FF) biopsy. The procedure was piloted in the real-world setting for breast cancer samples.</p><p><strong>Results: </strong>Cells shaken from ex vivo biopsies can yield DNA of sufficient quantity and quality for WGS, while having no discernible impact on quality of tissue morphology. WGS data showed good coverage, comparable variant calls and generally higher tumour content in shaken cell samples compared with the control FF samples. For real-world biopsies, DNA yields were lower, but WGS data were of excellent quality for the cases analysed.</p><p><strong>Conclusions: </strong>Shaken biopsy sampling allows genomic sequencing from patients with cancer who may otherwise not receive a genome sequence due to limited sample availability. It represents a way of overcoming the logistics of obtaining and storing FF tissue making it a suitable technique for wider scale implementation in the clinical setting.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542179","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":"If you provide them, they will come: an observational study of online pathology report access by patients at a large, academic, tertiary care hospital in Canada.","authors":"Jacob Ranot, Pedram Noghani, Deanna Rothwell, Jason K Wasserman","doi":"10.1136/jcp-2025-210065","DOIUrl":"https://doi.org/10.1136/jcp-2025-210065","url":null,"abstract":"<p><strong>Aims: </strong>Patients of The Ottawa Hospital (TOH) are given immediate access to their pathology reports via an online patient portal. The purpose of this study was to determine how often patients accessed their reports, the sociodemographic and pathologic variables associated with access and the latency between sign out and access.</p><p><strong>Methods: </strong>This retrospective cross-sectional observational study was conducted on the first 250 consecutive pathology reports published in 2023 from 10 different subspecialties in anatomical pathology at TOH. Data regarding date/time of report publication and access, as well as demographic data, and variables related to the individual report contents were extracted from the hospital's electronic health records.</p><p><strong>Results: </strong>Of the 2500 patients included in this study, 1315 (52.6%) accessed their report online. Patients under 65 years of age, female patients and those residing within Ottawa were more likely to access their reports. Biopsies and reports with malignant diagnoses were accessed at higher rates than resections and benign cases, respectively. 463 (36.0%) patients accessed their reports within 24 hours; 822 (68.5%) accessed them within the first week. In 53% of cases, the patient accessed their report before the treating physician.</p><p><strong>Conclusions: </strong>These findings highlight that while over half of patients accessed their pathology reports online, significant differences in access rates were observed based on age, gender, location and report type. The high proportion of patients reviewing their reports before their treating physician underscores the need for patient-centred strategies to enhance understanding and support timely communication of results.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523393","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":"Revealing <i>RB1</i> loss in an emerging entity: report of two cases of PRRX1-rearranged mesenchymal tumours.","authors":"Fleur Cordier, Sharareh Fadaei, Liesbeth Ferdinande, Frederick Dochy, Lieve Vanwalleghem, Karolien Van Den Bossche, Siebe Loontiens, Joni Van der Meulen, Nadine Van Roy, Jo Van Dorpe, David Creytens","doi":"10.1136/jcp-2023-209267","DOIUrl":"10.1136/jcp-2023-209267","url":null,"abstract":"<p><strong>Aims: </strong><i>PRRX1</i>-rearranged mesenchymal tumours are a recently identified and rare subgroup of soft tissue neoplasms with distinct morphological features and genetic alterations. This study aims to further investigate the immunohistochemical profile and underlying genetic alterations in these tumours in order to get more insight on their underlying biology and the unique profile of these tumours.</p><p><strong>Methods: </strong>Two new molecular confirmed cases of <i>PRRX1</i>-rearranged mesenchymal tumours were thoroughly studied with immunohistochemical stainings (RB1, CD34, ALK and pan-TRK), fluorescence in situ hybridisation (FISH) <i>RB1/13q12</i> and RNA-based next-generation sequencing.</p><p><strong>Results: </strong>Both cases exhibited typical morphological and molecular features, confirming the diagnosis of <i>PRRX1</i>-rearranged mesenchymal tumours. Immunohistochemistry revealed RB1 loss in both cases, which was subsequently confirmed through FISH analysis. Additionally, one case showed focal positivity for CD34, ALK and pan-TRK on immunohistochemistry.</p><p><strong>Conclusions: </strong>We identified loss of <i>RB1</i> in two cases of PRRX1-rearranged mesenchymal tumours. This could suggest a potential association with <i>RB1</i>-deficient soft tissue tumours, although further research is necessary. Furthermore, the finding of focal positivity for CD34, ALK and pan-TRK on immunohistochemistry enriches the immunohistochemical profile of these tumours.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"154-160"},"PeriodicalIF":2.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139058387","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":"Indian childhood cirrhosis: a retrospective study -redefining the older myths!","authors":"Surbhi Goyal, Akanksha Singh, Shivanshu Gangwar, Aditi Goyal, Puja Sakhuja, Seema Kapoor","doi":"10.1136/jcp-2023-208934","DOIUrl":"10.1136/jcp-2023-208934","url":null,"abstract":"<p><strong>Aims: </strong>This retrospective study emphasises the need of awareness for clinicopathological attributes of Indian childhood cirrhosis (ICC) in order to enable timely diagnosis and management.</p><p><strong>Methods: </strong>This study was done on liver archival tissue of our department from the period of January 2016 to December 2022. Of these, cases of copper overload on paediatric biopsies were retrieved. The histopathological features were scrutinised independently by three pathologists, correlating with their clinico-radiological investigations.</p><p><strong>Results: </strong>Five children in infancy to middle childhood presented with features of chronic liver disease in the form of jaundice and abdominal distention, were included in the study. Characteristic firm hepatomegaly with sharp margins and transaminitis was noted in all cases. Autoimmune, viral and metabolic workup were negative in all these patients except one which showed positive autoimmunity and another whose Coomb's test was positive. Normal ceruloplasmin levels and unremarkable slit lamp examination excluded the possibility of Wilson's disease. The histological features of marked ballooning degeneration with diffuse Mallory Denk, pericellular fibrosis, absence of steatosis and panlobular copper deposits clinched the diagnosis of ICC.</p><p><strong>Conclusions: </strong>ICC once believed to be extinct has still not vanished and remains underdiagnosed in routine practice. It is a rapidly fatal disease with a debatable pattern of inheritance and controversial role of copper as etiological agent. The clinical presentation is often deceptive and lack of awareness leads to misdiagnosis. Histopathological attributes are pathognomonic and possibility of ICC should be kept in all cases of cryptogenic cirrhosis.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"161-168"},"PeriodicalIF":2.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139403111","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":"In triple-negative breast cancer, fibrotic focus, the mitotic activity index and tumour-infiltrating lymphocytes have independent prognostic value: an observational population-based cohort study with very long follow-up.","authors":"Umay Kiraz, Emma Rewcastle, Kirsten B Pettersen, Desmond M Abono, Sadia H Raghe, Einar G Gudlaugsson, Jan P A Baak, Emilius A M Janssen","doi":"10.1136/jcp-2024-209855","DOIUrl":"https://doi.org/10.1136/jcp-2024-209855","url":null,"abstract":"<p><strong>Aims: </strong>Triple-negative breast cancer (TNBC) is prognostically and therapeutically heterogeneous. The mitotic activity index (MAI) and fibrotic focus (FF) have been established as predictors in non-TNBC but not in TNBC. Late distant metastases occur in TNBC, but previous studies had short follow-up. High stromal tumour-infiltrating lymphocytes (sTILs) are prognostically favourable, but prognostic sTILs-thresholds are not well assessed. We evaluated prognostic/predictive characteristics in an observational population-based cohort of 231 consecutive TNBC patients with long follow-up.</p><p><strong>Methods: </strong>MAI, FF, sTILs and other characteristics were analysed with standard receiver operating characteristic curve analysis, percentile-derived prognostic thresholds, univariate and multivariate survival methods. A TNBC index and decision tree were assessed for distant metastasis-free survival.</p><p><strong>Results: </strong>Long follow-up was decisive: 7% of patients developed late distant metastases. In agreement with the aggressive nature of TNBC, the strongest prognostic MAI-threshold was 5 (p=0.001), lower than that for non-TNBC phenotypes. Lymph-node (LN) status (p=0.0003), FF (p=0.002), MAI5 (p=0.009) and sTILs (threshold 40%, p=0.003) were multivariable based significant and independent prognosticators, but no other characteristics (age, tumour size and grade). LN status was the strongest prognosticator, followed by FF, MAI5 and sTILs40. Subgroup analyses of patients undergoing adjuvant chemotherapy (ACT) showed that only FF and sTILs had significant prognostic value, while LN-positivity and the combination of LN-positivity and MAI≥5 could be a predictive factor for ACT outcome.</p><p><strong>Conclusions: </strong>LN status, MAI5, FF and sTILs40 are prognostic factors in TNBC patients. In TNBC patients who have undergone ACT, the combination of LN-positivity and MAI5 is predictive for response to treatment.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449107","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":"Dissociation in hepatic vein pressure gradient, liver stiffness measurement and complications in histological subtypes of porto-sinusoidal vascular disease.","authors":"Chhagan Bihari, Sneha Dhariwal, Saggere Murlikrishna Shasthry, Archana Rastogi, Manoj Kumar Sharma, Shiv Kumar Sarin","doi":"10.1136/jcp-2023-209321","DOIUrl":"10.1136/jcp-2023-209321","url":null,"abstract":"<p><strong>Background and aims: </strong>Portosinusoidal vascular disease (PSVD) is a broad term encompassing varied histological patterns with changes in portal tracts and sinusoids without cirrhosis. We aimed to assess whether there is any clinical and pathological difference among the various histological categories of PSVD.</p><p><strong>Patients and methods: </strong>This study included liver biopsy cases classified as PSVD (2020-2022). Clinical and laboratory parameters were obtained from the electronic records. PSVD cases were histologically categorised as obliterative portal venopathy (OPV), OPV with fibrosis (OPV-F), incomplete septal cirrhosis (ISC), nodular regenerative hyperplasia (NRH), mega sinusoids with fibrosis (MSF) and unclassified. Follow-up complications were recorded.</p><p><strong>Results: </strong>PSVD categories were OPV (45 (26%)), OPV-F (37 (21.4%)), ISC (20 (11.6%)), NRH (19 (11%)), MSF (19 (11%)) and unclassified (33 (19%)). Elevated hepatic venous pressure gradient (HVPG) was noted in OPV-F (10 (IQR: 12-14.7)) and ISC (12 (IQR: 9-14)) mm Hg with higher fibrosis quantity in liver tissue and elevated procollagen III aminoterminal propeptide, which correlated with HVPG. On immunohistochemistry, OPV-F and ISC showed lesser expression of ADAMT13 in liver biopsies (p<0.001). On follow-up, ascites development was more in OPV-F and ISC than in other categories (p=0.001). Higher liver stiffness measurement (LSM) values were recorded in MSF and NRH, compared with other categories, but it did not correlate with fibrosis in liver biopsy.</p><p><strong>Conclusions: </strong>OPV-F and ISC had higher HVPG, fibrosis, and more ascites development on follow-up than the other categories of PSVD, and all are not the same. In contrast, MSF and NRH have spuriously high LSM.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"169-176"},"PeriodicalIF":2.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139502499","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":"Peripheral blood smear and bone marrow findings in spontaneous tumour lysis syndrome associated with haematolymphoid malignancies.","authors":"Muthu Sudalaimuthu, Ronit Juthani, Vishva Babu, Rakhee Kar, Debdatta Basu","doi":"10.1136/jcp-2024-209456","DOIUrl":"10.1136/jcp-2024-209456","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"215-216"},"PeriodicalIF":2.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141070178","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":"Emerging fusion-associated mesenchymal tumours: a tabular guide and appraisal of five 'novel' entities.","authors":"Jinesa Moodley, Ivan Chebib","doi":"10.1136/jcp-2024-209460","DOIUrl":"10.1136/jcp-2024-209460","url":null,"abstract":"<p><strong>Aims: </strong>The field of molecular pathology has undergone significant advancements in the clinical impact of sarcoma diagnosis, resulting in challenges to nosology of bone and soft tissue tumours. The surge in molecular data has led to the identification of novel fusions and description of new 'entities'. To illustrate this, we have selected five emerging entities with novel fusions: clear cell stromal tumour of the lung with <i>YAP1::TFE3</i> fusion, <i>GAB1::ABL1</i> fusion spindle cell neoplasm, <i>NUTM1</i>-rearranged sarcomas, <i>NR1D1</i>-rearranged sarcomas and calcified chondroid mesenchymal neoplasms.</p><p><strong>Methods: </strong>Literature for the relevant case reports and case series of these five entities were reviewed and clinicopathological data was collected. Additionally, this review includes a table format of recently described fusion-associated mesenchymal neoplasms.</p><p><strong>Results: </strong>The morphological and immunohistochemical features, along with diagnostic challenges, are discussed for each entity.</p><p><strong>Conclusions: </strong>Here, we have provided a review of selected emerging mesenchymal neoplasms, which of these neoplasms will meet the threshold to be 'new entities' remains to be determined.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"145-153"},"PeriodicalIF":2.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142288256","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":"Multisite clinical cross-validation and variant interpretation of a next generation sequencing panel for lymphoid cancer prognostication.","authors":"Peter J B Sabatini, Josh Bridgers, Shujun Huang, Gregory Downs, Tong Zhang, Clare Sheen, Nicole Park, Robert Kridel, Marco A Marra, Christian Steidl, David W Scott, Aly Karsan","doi":"10.1136/jcp-2023-209262","DOIUrl":"10.1136/jcp-2023-209262","url":null,"abstract":"<p><strong>Aims: </strong>Genomic sequencing of lymphomas is under-represented in routine clinical testing despite having prognostic and predictive value. Clinical implementation is challenging due to a lack of consensus on reportable targets and a paucity of reference samples. We organised a cross-validation study of a lymphoma-tailored next-generation sequencing panel between two College of American Pathologists (CAP)-accredited clinical laboratories to mitigate these challenges.</p><p><strong>Methods: </strong>A consensus for the genomic targets was discussed between the two institutes based on recurrence in diffuse large B-cell lymphoma, follicular lymphoma, mantle cell lymphoma, chronic lymphocytic leukaemia and T-cell lymphomas. Using the same genomic targets, each laboratory ordered libraries independently and a cross-validation study was designed to exchange samples (8 cell lines and 22 clinical samples) and their FASTQ files.</p><p><strong>Results: </strong>The sensitivity of the panel when comparing different library preparation and bioinformatic workflows was between 97% and 99% and specificity was 100% when a 5% limit of detection cut-off was applied. To evaluate how the current standards for variant classification of tumours apply to lymphomas, the Association for Molecular Pathology/American Society of Clinical Oncology/CAP and OncoKB classification systems were applied to the panel. The majority of variants were assigned a possibly actionable class or likely pathogenic due to more limited evidence in the literature.</p><p><strong>Conclusions: </strong>The cross-validation study highlights the benefits of sample and data exchange for clinical validation and provided a framework for reporting the findings in lymphoid malignancies.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"187-194"},"PeriodicalIF":2.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139106193","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":"Clinicopathological analysis of BRAF and non-BRAF MAPK pathway-altered gliomas in paediatric and adult patients: a single-institution study of 40 patients.","authors":"Rola H Ali, Mohamad Almanabri, Nawal Y Ali, Ahmad R Alsaber, Nisreen M Khalifa, Rania Hussein, Mona Alateeqi, Eiman M A Mohammed, Hiba Jama, Ammar Almarzooq, Noelle Benobaid, Zainab Alqallaf, Amir A Ahmed, Shakir Bahzad, Maryam Almurshed","doi":"10.1136/jcp-2023-209318","DOIUrl":"10.1136/jcp-2023-209318","url":null,"abstract":"<p><strong>Aims: </strong>Mitogen-activated protein kinase (MAPK) pathway alteration is a major oncogenic driver in paediatric low-grade gliomas (LGG) and some adult gliomas, encompassing BRAF (most common) and non-BRAF alterations. The aim was to determine the frequency, molecular spectrum and clinicopathological features of MAPK-altered gliomas in paediatric and adult patients at our neuropathology site in Kuwait.</p><p><strong>Methods: </strong>We retrospectively searched the data of molecularly sequenced gliomas between 2018 and 2023 for MAPK alterations, revised the pathology in view of the 2021 WHO classification and evaluated the clinicopathological data for possible correlations.</p><p><strong>Results: </strong>Of 272 gliomas, 40 (15%) harboured a MAPK pathway alteration in 19 paediatric (median 9.6 years; 1.2-17.6) and 21 adult patients (median 37 years; 18.9-89.2), comprising 42% and 9% of paediatric and adult cases, respectively. Pilocytic astrocytoma and glioblastoma were the most frequent diagnoses in children (47%) and adults (43%), respectively. BRAF V600E (n=17, 43%) showed a wide distribution across age groups, locations and pathological diagnoses while KIAA1549::BRAF fusion (n=8, 20%) was spatially and histologically restricted to cerebellar paediatric LGGs. Non-V600E variants and BRAF amplifications accompanied other molecular aberrations in high-grade tumours. Non-BRAF MAPK alterations (n=8) included mutations and gene fusions involving FGFR1, NTRK2, NF1, ROS1 and MYB. Fusions included KANK1::NTRK2, GOPC::ROS1 (both infant hemispheric gliomas), FGFR1::TACC1 (diffuse LGG), MYB::QKI (angiocentric glioma) and BCR::NTRK2 (glioblastoma). Paradoxical H3 K27M/MAPK co-mutations were observed in two LGGs.</p><p><strong>Conclusion: </strong>The study provided insights into MAPK-altered gliomas in Kuwait highlighting the differences among paediatric and adult patients and providing a framework for planning therapeutic polices.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"177-186"},"PeriodicalIF":2.5,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139403110","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}