Journal of Clinical Pathology最新文献

{"title":"<i>NKX2-1</i> gene variants in solid tumours: the spectrum of gene variants and potential impact in surgical pathology diagnosis.","authors":"Ju-Yoon Yoon, Farah El-Sharkawy Navarro, Qiang Ding, Jason Rosenbaum, Salvatore Priore","doi":"10.1136/jcp-2024-209860","DOIUrl":"https://doi.org/10.1136/jcp-2024-209860","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142687132","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":"Benchmarking digital displays (monitors) for histological diagnoses: the nephropathology use case.","authors":"Giorgio Cazzaniga, Francesco Mascadri, Stefano Marletta, Alessandro Caputo, Gabriele Guidi, Giovanni Gambaro, Albino Eccher, Angelo Paolo Dei Tos, Fabio Pagni, Vincenzo L'Imperio","doi":"10.1136/jcp-2024-209418","DOIUrl":"10.1136/jcp-2024-209418","url":null,"abstract":"<p><strong>Aim: </strong>The digital transformation of the pathology laboratory is being continuously sustained by the introduction of innovative technologies promoting whole slide image (WSI)-based primary diagnosis. Here, we proposed a real-life benchmark of a pathology-dedicated medical monitor for the primary diagnosis of renal biopsies, evaluating the concordance between the 'traditional' microscope and commercial monitors using WSI from different scanners.</p><p><strong>Methods: </strong>The College of American Pathologists WSI validation guidelines were used on 60 consecutive renal biopsies from three scanners (Aperio, 3DHISTECH and Hamamatsu) using pathology-dedicated medical grade (MG), professional grade (PG) and consumer-off-the-shelf (COTS) monitors, comparing results with the microscope diagnosis after a 2-week washout period.</p><p><strong>Results: </strong>MG monitor was faster (1090 vs 1159 vs 1181 min, delta of 6-8%, p<0.01), with slightly better performances on the detection of concurrent diseases compared with COTS (κ=1 vs 0.96, 95% CI=0.87 to 1), but equal concordance to the commercial monitors on main diagnosis (κ<i>=</i>1). Minor discrepancies were noted on specific scores/classifications, with MG and PG monitors closer to the reference report (r=0.98, 95% CI=0.83 to 1 vs 0.98, 95% CI=0.83 to 1 vs 0.91, 95% CI=0.76 to 1, κ=0.93, 95% CI=077 to 1 vs 0.93, 95% CI=0.77 to 1 vs 0.86, 95% CI=0.64 to 1, κ=1 vs 0.50, 95% CI=0 to 1 vs 0.50, 95% CI=0 to 1, for IgA, antineutrophilic cytoplasmic antibody and lupus nephritis, respectively). Streamlined Pipeline for Amyloid detection through congo red fluorescence Digital Analysis detected amyloidosis on both monitors (4 of 30, 13% cases), allowing detection of minimal interstitial deposits with slight overestimation of the Amyloid Score (average 6 vs 7).</p><p><strong>Conclusions: </strong>The digital transformation needs careful assessment of the hardware component to support a smart and safe diagnostic process. Choosing the display for WSI is critical in the process and requires adequate planning.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140305764","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":"Primary melanoma of the urinary tract: a clinicopathological study of cases and literature review.","authors":"Lisha Wang, Mohammed Wali, Yue Sun","doi":"10.1136/jcp-2024-209684","DOIUrl":"https://doi.org/10.1136/jcp-2024-209684","url":null,"abstract":"<p><strong>Aim: </strong>Primary malignant melanomas in the bladder or urethra are exceedingly rare. Diagnosing these tumours presents substantial challenges due to their close resemblance in gross appearance and histology to urothelial carcinomas.</p><p><strong>Methods: </strong>A retrospective review of our department archives from 2000 to 2023 identified four cases of primary malignant melanoma in the urinary tract. Demographic and clinical data were extracted from electronic medical records.</p><p><strong>Results: </strong>This retrospective case series investigates the clinical presentations, histopathological characteristics, immunohistochemical profiles and molecular features of four unique cases of primary malignant melanoma in the bladder or urethra.</p><p><strong>Conclusion: </strong>Our analysis aims to deepen the understanding of the diagnostic and management strategies for this extremely rare disease.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142687136","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":"Idiopathic granulomatous mastitis: a 5-year retrospective review of cases in a tertiary centre in Dublin, Ireland.","authors":"Elaine Houlihan, Katherine Ryan, Jennifer Mannion, Grace Hennessy, Barbara Dunne, Elizabeth Connolly, Brian O'Connell","doi":"10.1136/jcp-2023-209028","DOIUrl":"10.1136/jcp-2023-209028","url":null,"abstract":"<p><strong>Aims: </strong>Idiopathic granulomatous mastitis (IGM) is a rare, benign, inflammatory breast disorder of unknown aetiology usually affecting women of reproductive age. It classically presents as a unilateral painful breast mass. It is frequently mistaken for carcinoma or other inflammatory breast diseases. Diagnostic investigations include clinical examination, appropriate imaging and tissue sampling. A link between IGM and infection with the <i>Corynebacterium</i> species in particular <i>Corynebacterium kroppenstedtii</i> has been described.</p><p><strong>Methods: </strong>A retrospective single-centre cohort study was conducted over a 5-year period (2017-2022); all cases of IGM were identified.</p><p><strong>Results: </strong>Forty-one patients were diagnosed with IGM. Breast lump was the most common presenting complaint (n=29). The average age was 45 years. Eighteen patients had samples sent for culture and sensitivity, 11 of which had positive microbiology results indicative of <i>Corynebacterium</i> spp infection.An 82% resolution rate (27 of 33) was recorded in those who received either a short-antibiotic course or none at all. Eight patients reported persistent disease at 3 months, five of which had evidence of <i>Corynebacterium</i> spp.</p><p><strong>Discussion: </strong>This 5-year review highlights the impact of IGM in a tertiary centre in Dublin, Ireland. Although no treatment guidelines exist, options include antibiotics, immunomodulators and surgery. Due to risk of fistulae and unfavourable cosmetic outcomes, surgery should be reserved for refractory IGM. We suspect that there may be a subset of patients where prolonged antibiotic therapy should be considered. Defining this subgroup requires further study, but likely includes those with cystic neutrophilic granulomatous mastitis, relapsing disease and in whom <i>Corynebacterium</i> spp is recovered.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"835-841"},"PeriodicalIF":2.5,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10214746","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":"Performance evaluation of a CRISPR Cas9-based selective exponential amplification assay for the detection of KRAS mutations in plasma of patients with advanced pancreatic cancer.","authors":"Yue Shen, Xiaoling Zhang, Liyi Zhang, Zuoying Zhang, Bao Lyu, Qian Lai, Qinglin Li, Yuhua Zhang, Jieer Ying, Jinzhao Song","doi":"10.1136/jcp-2023-208974","DOIUrl":"10.1136/jcp-2023-208974","url":null,"abstract":"<p><strong>Aims: </strong>Pancreatic ductal adenocarcinoma (PDAC) is highly malignant, with shockingly mortality rates. KRAS oncoprotein is the main molecular target for PDAC. Liquid biopsies, such as the detection of circulating tumour DNA (ctDNA), offer a promising approach for less invasive diagnosis. In this study, we aim to evaluate the precision and utility of programmable enzyme-based selective exponential amplification (PASEA) assay for rare mutant alleles identification.</p><p><strong>Methods: </strong>PASEA uses CRISPR-Cas9 to continuously shear wild-type alleles during recombinase polymerase amplification, while mutant alleles are exponentially amplified, ultimately reaching a level detectable by Sanger sequencing. We applied PASEA to detect KRAS mutations in plasma ctDNA. A total of 153 patients with stage IV PDAC were enrolled. We investigated the relationship between ctDNA detection rates with various clinical factors.</p><p><strong>Results: </strong>Our results showed 91.43% vs 44.83% detection rate in patients of prechemotherapy and undergoing chemotherapy. KRAS ctDNA was more prevalent in patients with liver metastases and patients did not undergo surgical resection. Patients with liver metastases prior to chemotherapy showed a sensitivity of 95.24% (20/21) with PASEA. Through longitudinal monitoring, we found ctDNA may be a more accurate biomarker for monitoring chemotherapy efficacy in PDAC than CA19-9.</p><p><strong>Conclusions: </strong>Our study sheds light on the potential of ctDNA as a valuable complementary biomarker for precision targeted therapy, emphasising the importance of considering chemotherapy status, metastatic sites and surgical history when evaluating its diagnostic potential in PDAC. PASEA technology provides a reliable, cost-effective and minimally invasive method for detecting ctDNA of PDAC.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"853-860"},"PeriodicalIF":2.5,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10183369","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":"Optimal carcinoembryonic antigen (CEA) cutoff values in the diagnosis of neoplastic mucinous pancreatic cysts differ among assays.","authors":"David Kim, Elizabeth Margolskee, Abha Goyal, Momin T Siddiqui, Jonas J Heymann, Rema Rao, Joshua Hayden","doi":"10.1136/jcp-2023-209136","DOIUrl":"10.1136/jcp-2023-209136","url":null,"abstract":"<p><strong>Aim: </strong>Pancreatic cyst fluid carcinoembryonic antigen (CEA) is a pivotal test in the diagnosis and management of neoplastic mucinous cysts (NMC) of the pancreas. Cyst fluid CEA levels of 192 ng/mL have been widely used to identify NMC. However, CEA values are unique to and significantly differ between individual assays with various optimal cutoffs reported in the literature for NMC. Here, we investigate the optimal CEA cut-off value of pancreatic cysts from two different assays to identify differences in thresholds.</p><p><strong>Methods: </strong>Pancreatic cyst fluid CEA levels, CEA assay platform (Beckman Dxl (BD) or Siemens Centaur XP (SC)), and clinical/pathological information were retrospectively collected. Cases were categorised into either NMC or non-NMC. Optimal CEA cut-off values were calculated via a receiver operator characteristic curve. Cut-off values were then identified separately by assay platform.</p><p><strong>Results: </strong>In total, 149 pancreatic cystic lesions with concurrent CEA values (SC: n=47; BD: n=102) were included. Histological correlation was available for 26 (17%) samples. The optimal CEA cut-off value for all samples at the study institution was 45.9 ng/mL (area under the curve (AUC)=86, Sn=85.7%, Sp=73.8%). When analysed separately by CEA assay, the cut-off values were 45.9 ng/mL (AUC=84.27, Sn=89.7%, Sp=71.4%) for BD and 24.4 ng/mL (AUC=77, Sn=81.8%, Sp=75%) for SC (p=0.48).</p><p><strong>Conclusions: </strong>This study showed an optimal pancreas cyst CEA cut-off threshold of 45.9 ng/mL, which is lower than commonly cited literature with different cutoffs on the two separate platforms (BD: 45.9 ng/mL, SC: 24.4 ng/mL).</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"848-852"},"PeriodicalIF":2.5,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71521613","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":"Low interobserver agreement among subspecialised breast pathologists in evaluating HER2-low breast cancer.","authors":"Gulisa Turashvili, Yuan Gao, Di Andy Ai, Abdulwahab M Ewaz, Sandra Gjorgova Gjeorgjievski, Qun Wang, Thi T A Nguyen, Chao Zhang, Xiaoxian Li","doi":"10.1136/jcp-2023-209055","DOIUrl":"10.1136/jcp-2023-209055","url":null,"abstract":"<p><strong>Aims: </strong>Metastatic HER2-low breast cancer (HLBC) can be treated by trastuzumab deruxtecan. Assessment of low levels of HER2 protein expression suffers from poor interobserver reproducibility. The aim of the study was to evaluate the interobserver agreement among subspecialised breast pathologists and develop a practical algorithm for assessing HLBC.</p><p><strong>Methods: </strong>Six breast pathologists (4 juniors, 2 seniors) evaluated 106 HER2 immunostained slides with 0/1+expression. Two rounds (R1, R2) of ring study were performed before and after training with a modified Ki-67 algorithm, and concordance was assessed.</p><p><strong>Results: </strong>Agreement with 5% increments increased from substantial to almost perfect (R1: 0.796, R2: 0.804), and remained substantial for three categories (<1% vs 1%-10% vs >10%) (R1: 0.768, R2: 0.764). Seniors and juniors had almost perfect agreement with 5% increments (R1: 0.859 and 0.821, R2: 0.872 and 0.813). For the three categories, agreement remained almost perfect among seniors (R1: 0.837, R2: 0.860) and substantial among juniors (R1: 0.792, R2: 0.768). Binary analysis showed suboptimal agreement, decreasing for both juniors and seniors from substantial (R1: 0.650 and 0.620) to moderate (R2: 0.560 and 0.554) using the 1% cut-off, and increasing from moderate to substantial (R1: 0.478, R2: 0.712) among seniors but remaining moderate (R1: 0.576, R2: 0.465) among juniors using the 10% cut-off. The average scoring time per case was higher (72 vs 92 s).</p><p><strong>Conclusions: </strong>Subspecialised breast pathologists have suboptimal agreement for immunohistochemical evaluation of HLBC using the modified Ki-67 methodology. An urgent need remains for a new assay/algorithm to reliably evaluate HLBC.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"815-821"},"PeriodicalIF":2.5,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10627996","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":"My approach to assessing for colorectal polyp cancer.","authors":"Newton A C S Wong","doi":"10.1136/jcp-2024-209604","DOIUrl":"10.1136/jcp-2024-209604","url":null,"abstract":"<p><p>Assessing a locally excised colorectal adenoma for malignancy is a common but often challenging scenario. This article outlines a simple, stepwise approach to this diagnostic assessment. The first steps are to assess for high-grade dysplasia and, if present, to determine whether any neoplastic glands lie within the submucosa. If so, a distinction must then be made between epithelial misplacement and adenocarcinoma; this process is aided by certain clinical and endoscopic data together with assessment of six key histological features. If adenocarcinoma is diagnosed, a final step is to report the presence/absence of high-risk features of polyp cancers because this will then determine if further surgical resection is required for that malignancy. Caveats, uncertainties and newly introduced concepts exist at several steps of the assessment pathway presented and are therefore discussed in detail throughout the article.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"793-801"},"PeriodicalIF":2.5,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792543","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":"Tumour-infiltrating lymphocyte subsets and their individual prognostic impact in oral squamous cell carcinoma.","authors":"Aanchal Kakkar, Rishikesh Thakur, Diya Roy, Ridhi Sood, Atul Sharma, Rajeev Kumar Malhotra, Alok Thakar","doi":"10.1136/jcp-2023-208918","DOIUrl":"10.1136/jcp-2023-208918","url":null,"abstract":"<p><strong>Aims: </strong>Current understanding of oral squamous cell carcinoma (OSCC) is incomplete with regard to prognostic factors that lead to the considerable heterogeneity in treatment response and patient outcomes. We aimed to evaluate the impact of individual tumour-infiltrating lymphocyte (TIL) subsets on prognosis as a possible rationale for this, in a retrospective observational study.</p><p><strong>Methods: </strong>Immunohistochemistry was performed to quantitatively assess cell densities of CD3+, CD20+, CD4+, CD8+ and FOXP3+TIL subsets in 50 surgically treated OSCC cases. Results were correlated with disease-free survival (DFS) and overall survival (OS). Receiver operating characteristic curve analysis and Youden index were applied to determine prognostically significant cut-off values.</p><p><strong>Results: </strong>Mean counts for CD3+, CD4+, CD8+, CD20+ and FOXP3+TILs were 243, 52, 132, 53 and 116 cells per high power field, respectively. High CD8+ and low FOXP3+TIL counts, and high ratio of CD8:FOXP3 were significantly associated with longer DFS and OS, as well as with improved tumour-host interface parameters.</p><p><strong>Conclusions: </strong>Host immune response and its interaction with cancer cells have a significant impact on OSCC outcomes, with some TIL subsets being more clinically relevant than others. High cytotoxic T-cell (CD8) and low Treg (FOXP3) counts, and high cytotoxic T-cell to Treg (CD8:FOXP3) ratio are significantly associated with favourable prognosis. These results may serve as a leading point in identifying novel therapeutic agents that can redesign the tumour immune microenvironment by reducing infiltrating FOXP3-lymphocytes, and modifying their signalling pathways.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"822-828"},"PeriodicalIF":2.5,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10221094","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":"Rosai-Dorfman Disease of pancreas: rare aetiology mimicking malignancy.","authors":"Eros Qama, Carlos Castrodad Rodriguez, Radhika Sekhri, Chuanyong Lu, John McAuliffe, Amarpreet Bhalla","doi":"10.1136/jcp-2024-209412","DOIUrl":"10.1136/jcp-2024-209412","url":null,"abstract":"<p><p>Rosai-Dorfman disease (RDD) is a non-Langerhans cell histiocytosis which usually presents as painless lymphadenopathy. Extranodal involvement is known to occur in various organs, and less than ten cases with primary pancreatic involvement have been reported previously. This case report details the clinical course of an elderly female, presenting with upper abdominal discomfort and imaging suggestive of malignancy. Multiple non-diagnostic fine-needle aspirations were followed by surgical intervention. Histopathological evaluation revealed a pancreatic mass with characteristic features of RDD. The large hallmark RDD histiocytes showed pale, watery-clear cytoplasm, central round nucleus, and prominent nucleolus, with and without lymphocyte emperipolesis. The RDD histiocytes showed positive immunostaining for CD68, CD163, S100 (nuclear and cytoplasmic), OCT-2, Cyclin D1 and are negative for CD1a, Factor XIIIa, fascin and langerin. This case underscores the importance of considering RDD in the differential diagnosis of pancreatic masses alongwith comprehensive evaluation, multidisciplinary approach and pancreatic core needle biopsy evaluation.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":" ","pages":"861-864"},"PeriodicalIF":2.5,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141723668","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}