Journal of Clinical Pathology最新文献

{"title":"The road ahead: a brief guide to navigating the 2022 WHO classification of endocrine and neuroendocrine tumours.","authors":"Carl Christofer Juhlin","doi":"10.1136/jcp-2023-209060","DOIUrl":"10.1136/jcp-2023-209060","url":null,"abstract":"<p><p>The most recent WHO classification of endocrine and neuroendocrine tumours has brought about significant changes in the diagnosis and grading of these lesions. For instance, pathologists now have the ability to stratify subsets of thyroid and adrenal neoplasms using various histological features and composite risk assessment models. Moreover, novel recommendations on how to approach endocrine neoplasia involve additional immunohistochemical analyses, and the recognition and implementation of these key markers is essential for modernising diagnostic capabilities. Additionally, an improved understanding of tumour origin has led to the renaming of several entities, resulting in the emergence of terminology not yet universally recognised. The adjustments in nomenclature and prognostication may pose a challenge for the clinical team, and care providers might be eager to engage in a dialogue with the diagnosing pathologist, as treatment guidelines have not fully caught up with these recent changes. Therefore, it is crucial for a surgical pathologist to be aware of the knowledge behind the implementation of changes in the WHO classification scheme. This review article will delve into the most significant diagnostic and prognostic changes related to lesions in the parathyroid, thyroid, adrenal glands and the gastroenteropancreatic neuroendocrine system. Additionally, the author will briefly share his personal reflections on the clinical implementation, drawing from a couple of years of experience with these new algorithms.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"1-10"},"PeriodicalIF":2.5,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11671914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563530","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":"Sunitinib induced glomerular thrombotic microangiopathy in a patient with refractory pancreatic neuroendocrine tumour.","authors":"Aisha Khan, Margarita Consing Gangelhoff, Simon Moubarak, Sandra Herrmann, Karim Nooruddin, Mariam Alexander","doi":"10.1136/jcp-2024-209851","DOIUrl":"https://doi.org/10.1136/jcp-2024-209851","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824200","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":"Cholangiocarcinoma classification: current approach, relevance and challenges.","authors":"Benjamin Goeppert, Yoh Zen, Juan Valle, David Klimstra, Vikram Deshpande","doi":"10.1136/jcp-2024-209708","DOIUrl":"https://doi.org/10.1136/jcp-2024-209708","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824182","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":"Clinicopathological characteristics of light chain proximal tubulopathy: a multicentre case series.","authors":"Yao Lin, Guolan Xing, Ruimin Hu, Shaojun Liu, Guisen Li, Ping Zhang, Feng Xu, Dandan Liang, Xiaodong Zhu, Mingchao Zhang, Fan Yang, Xinchen Yao, Feng Liu, Yujie Wang, Shihui Dong, Shaoshan Liang, Caihong Zeng","doi":"10.1136/jcp-2024-209620","DOIUrl":"https://doi.org/10.1136/jcp-2024-209620","url":null,"abstract":"<p><strong>Aims: </strong>Light chain proximal tubulopathy (LCPT) is a rare complication of paraprotein-related diseases. We report a case series to present the clinicopathological characteristics and outcomes of LCPT.</p><p><strong>Methods: </strong>A multicentre retrospective case series of 47 patients with LCPT, consisting of 36 crystalline, three non-crystalline, and eight mixed LCPTs, was studied between January 2007 and December 2023.</p><p><strong>Results: </strong>The median age at diagnosis was 57 years. Presentations included proteinuria (100%), renal insufficiency (62%) and Fanconi syndrome (68%). The underlying haematological diagnoses were monoclonal gammopathy of renal significance in 81% and multiple myeloma in 19%. Monoclonal light chain (LC) was detected in all cases using serum/urine-free LC assays or immunofixation electrophoresis. Among 36 crystalline LCPTs, 34 were κ-restricted and 2 λ-restricted. Three non-crystalline LCPTs were all λ-restricted. In mixed LCPTs, seven were κ-restricted and one was λ-restricted. Notably, 66% frozen-section immunofluorescence failed to reveal restricted LC, requiring paraffin-immunofluorescence or immunoelectron microscopy. The appearance of inclusions displayed intraindividual homogeneity but interindividual heterogeneity in 42 patients and notable intraindividual heterogeneity in the remaining 5 patients. Haematological complete response, very good partial response and partial response occurred in 61%. Kidney function improved or remained stable in 84%, worsened in 8% and progressed to end-stage renal disease in 8%.</p><p><strong>Conclusions: </strong>Proteinuria and kidney dysfunction are the most common but less-specific renal manifestations of LCPTs, with most featuring Fanconi syndrome. Crystalline LCPT, primarily associated with κ-LC, is the predominant form. Most inclusions displayed intraindividual homogeneity and interindividual heterogeneity by electron microscopy. Most achieved haematological responses and favourable renal outcomes.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818184","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":"Formulation of workplace-based assessments (WBAs) and entrustable professional activities (EPAs) for postgraduate medical trainees in clinical biochemistry.","authors":"Tahir S Pillay, Lena Jafri, Rivak Punchoo","doi":"10.1136/jcp-2024-209796","DOIUrl":"https://doi.org/10.1136/jcp-2024-209796","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818195","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":"Clinicopathological characterisation of <i>MTAP</i> alterations in gastrointestinal cancers.","authors":"Gianluca Mauri, Giorgio Patelli, Laura Roazzi, Emanuele Valtorta, Alessio Amatu, Giovanna Marrapese, Erica Bonazzina, Federica Tosi, Katia Bencardino, Gabriele Ciarlo, Elisa Mariella, Silvia Marsoni, Alberto Bardelli, Emanuela Bonoldi, Andrea Sartore-Bianchi, Salvatore Siena","doi":"10.1136/jcp-2023-209341","DOIUrl":"10.1136/jcp-2023-209341","url":null,"abstract":"<p><strong>Background: </strong>Methylthioadenosine phosphorylase (MTAP) is an essential metabolic enzyme in the purine and methionine salvage pathway. In cancer, <i>MTAP</i> gene copy number loss (<i>MTAP</i> loss) confers a selective dependency on the related protein arginine methyltransferase 5. The impact of <i>MTAP</i> alterations in gastrointestinal (GI) cancers remains unknown although hypothetically druggable. Here, we aim to investigate the prevalence, clinicopathological features and prognosis of <i>MTAP</i> loss GI cancers.</p><p><strong>Methods: </strong>Cases with <i>MTAP</i> alterations were retrieved from The Cancer Genome Atlas (TCGA) and a real-world cohort of GI cancers profiled by next-generation sequencing. If <i>MTAP</i> alterations other than loss were found, immunohistochemistry was performed. Finally, we set a case-control study to assess <i>MTAP</i> loss prognostic impact.</p><p><strong>Results: </strong>Findings across the TCGA dataset (N=1363 patients) and our cohort (N=508) were consistent. Gene loss was the most common <i>MTAP</i> alteration (9.4%), mostly co-occurring with <i>CDKN2A/B</i> loss (97.7%). Biliopancreatic and gastro-oesophageal cancers had the highest prevalence of <i>MTAP</i> loss (20.5% and 12.7%, respectively), being mostly microsatellite stable (99.2%). In colorectal cancer, <i>MTAP</i> loss was rare (1.1%), while most <i>MTAP</i> alterations were mutations (5/7, 71.4%); among the latter, only <i>MTAP-CDKN2B</i> truncation led to protein loss, thus potentially actionable. <i>MTAP</i> loss did not confer worse prognosis.</p><p><strong>Conclusions: </strong><i>MTAP</i> alterations are found in 5%-10% of GI cancers, most frequently biliopancreatic and gastro-oesophageal. <i>MTAP</i> loss is the most common alteration, identified almost exclusively in MSS, <i>CDKN2A/B</i> loss, upper-GI cancers. Other <i>MTAP</i> alterations were found in colorectal cancer, but unlikely to cause protein loss and drug susceptibility.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139729782","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":"Lymphoid enhancer-binding factor 1 (LEF1) immunostaining as a surrogate for β-catenin (<i>CTNNB1</i>) mutations.","authors":"Ekkehard Hewer, Pascal David Fischer, Erik Vassella, Laura Knabben, Sara Imboden, Michael D Mueller, Tilman T Rau, Matthias S Dettmer","doi":"10.1136/jcp-2024-209695","DOIUrl":"https://doi.org/10.1136/jcp-2024-209695","url":null,"abstract":"<p><strong>Aims: </strong>Mutations affecting exon 3 of the β-catenin (<i>CTNNB1</i>) gene result in constitutive activation of WNT signalling and are a diagnostic hallmark of several tumour entities including desmoid-type fibromatosis. They also define clinically relevant tumour subtypes within certain entities, such as endometrioid carcinoma. In diagnostics, β-catenin immunohistochemistry is widely used as a surrogate for <i>CTNNB1</i> mutations. Yet, it is often difficult to assess in practice, given that the characteristic nuclear translocation may be focal or hard to distinguish from the spillover of the normal membranous staining.</p><p><strong>Methods: </strong>We therefore examined lymphoid enhancer-binding factor 1 (LEF1) immunostaining, a nuclear marker of WNT activation that serves as a potential surrogate for <i>CTNNB1</i> mutations.</p><p><strong>Results: </strong>In a cohort of endometrial carcinomas with known mutation status (n=130) LEF1 was 85% accurate in predicting <i>CTNNB1</i> mutation status (64% sensitivity, 90% specificity) while β-catenin was 76% accurate (72% sensitivity; 77% specificity). Across a variety of entities characterised by <i>CTNNB1</i> mutations as putative drivers, we found diffuse and strong expression of LEF1 in 77% of cases. LEF1 immunostaining proved easier to interpret than β-catenin immunostaining in 54% of cases, more difficult in 1% of cases and comparable in the remaining cases.</p><p><strong>Conclusion: </strong>We conclude that LEF1 immunostaining is a useful surrogate marker for <i>CTNNB1</i> mutations. It favourably complements β-catenin immunohistochemistry and outperforms the latter as a single marker.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142800809","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":"Surgical pathology and sustainable development: international landscape and prospects.","authors":"Rémi Vergara, Ivan Théate, Peter Boor, Ilyssa O Gordon, Jonathan West, Selma Abdelmoula, Cyprien Tilmant, Roque Gabriel Wiseman Pinto, Lucie Gaillot-Durand, Sheri Scott, Alexis Trecourt, Anne Rullier","doi":"10.1136/jcp-2024-209555","DOIUrl":"10.1136/jcp-2024-209555","url":null,"abstract":"<p><p>The healthcare sector significantly contributes to global greenhouse gas emissions, with surgical pathology (SP) playing a notable role. This review explores the ecological transformation of SP, offering a global overview of existing challenges and sustainable initiatives worldwide.While some countries, such as the UK and France, have developed national strategies to reduce the carbon footprint of healthcare, including SP, many regions remain at an early stage of implementing green practices. Several studies have assessed the carbon footprint of SP, focusing on key aspects such as laboratory operations, pathology procedures and functional units, highlighting materials and transportation as major contributors to emissions. The integration of digital pathology and artificial intelligence (AI) presents opportunities to enhance efficiency and address medical deserts but also poses challenges due to the associated energy consumption.Local initiatives such as the 'Transformation Ecologique en Anatomie et Cytologie Pathologiques' (Ecological transformation in SP) or TEAP collective in France, Belgium's 'Green Team' and sustainable practices in Tunisia and New Zealand demonstrate the global effort to reduce the environmental impact of SP. Key strategies discussed include ecodesign of care, circular economy practices, green AI and partnerships with industry. However, achieving meaningful reductions in SP's environmental impact requires international cooperation and support from national health policies. This review emphasises the importance of collaborative efforts to implement sustainable solutions without compromising the quality and safety of healthcare services.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785915","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":"Characterisation of metastases in parotid gland lesions: clinical and cytological insights.","authors":"Federica Policardo, Angela Feraco, Pietro Tralongo, Federica Vegni, Antonino Mule', Liron Pantanowitz, Esther Diana Rossi","doi":"10.1136/jcp-2024-209663","DOIUrl":"https://doi.org/10.1136/jcp-2024-209663","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142754929","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":"Postoperative Hirschsprung's associated enterocolitis (HAEC): transition zone as putative histopathological predictive factor.","authors":"Miriam Duci, Luisa Santoro, Angelo Paolo Dei Tos, Greta Loss, Claudia Mescoli, Piergiorgio Gamba, Francesco Fascetti Leon","doi":"10.1136/jcp-2023-209129","DOIUrl":"10.1136/jcp-2023-209129","url":null,"abstract":"<p><strong>Aims: </strong>Hirschsprung's-associated enterocolitis (HAEC) is the most severe complication of Hirschsprung disease (HD), and its pathogenesis is still unknown. Length of transition zone (TZ) interposed between aganglionic and normal bowel has been poorly explored as predictor for postoperative HAEC (post-HAEC). This study aimed to identify potential predictive factors for post-HAEC, with a particular focus on histopathological findings.</p><p><strong>Methods: </strong>Data from Hirschsprung patients treated in a single Italian centre between 2010 and 2022 with a follow-up >6 months were collected. Thorough histopathological examination of the resected bowel was conducted, focusing on length of TZ and aganglionic bowel.The degree of inflammatory changes in ganglionic resected bowel was further obtained. Ultra-long HD, total colonic aganglionosis and ultra-short HD were excluded. Bivariate and multivariate regression analysis were performed.</p><p><strong>Results: </strong>Thirty-one patients were included; 5 experienced preoperative HAEC (pre-HAEC) and later post-HAEC (16.1%), further 10 patients developed post-HAEC (total post-HAEC 48.38%). Pre-HAEC-history and a TZ<2.25 cm correlated with an early development of post-HAEC. Multivariate analysis identified a TZ<2.25 cm as an independent post-HAEC predictive factor (p=0.0096). Inflammation within the ganglionic zone and a TZ<2.25 cm correlated with higher risk of post-HAEC (p=0.0074, 0.001, respectively). Severe post-HAEC more frequently occurred in patients with pre-HAEC (p=0.011), histological inflammation (p=0.0009) and short TZ (p=0.0015).</p><p><strong>Conclusions: </strong>This study suggests that TZ<2.25 cm predicts the risk of post-HAEC. Preoperative clinical and histopathology inflammation may predispose to worst post-HAEC. Readily available histopathological findings might help identifying patients at higher risk for HAEC and implementing prevention strategies.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138487648","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}