Pathology最新文献

{"title":"Clinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.","authors":"Gelareh Farshid, S Jan Ibbetson, Malcolm Pradhan, Lachlan Henry, Nicholas David Manton, Andrew Dubowsky, Nicola Kazia Poplawski","doi":"10.1016/j.pathol.2024.08.004","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.08.004","url":null,"abstract":"<p><p>PTEN hamartoma tumour syndrome (PHTS) is an autosomal dominant hereditary cancer syndrome, caused mostly by germline pathogenic variants in PTEN. Female carriers have an up to 80% lifetime risk of breast cancer. Pathological features of breast cancer in PHTS have seldom been reported. In a collaboration between all histopathology laboratories in our state and our statewide familial cancer service, we tracked the breast biopsies of 12 females with known PTEN pathogenic or likely pathogenic (P/LP) variants (January 1990 to January 2018). Two further cases were added by a Victorian cancer genetics unit. Breast cancer, inclusive of invasive cancer or ductal carcinoma in situ (DCIS), was diagnosed in 12 of 14 cases (85.7%). One case had a family history of PHTS, and six had a family history of breast cancer. The mean age at first breast cancer diagnosis was 41.6 years (range 27-63). Six cases developed more than one breast cancer. Five (42%) developed contralateral breast cancer. Ten of the 12 invasive cancers were of no special type, and two were reported as lobular carcinomas. None were grade 1. When reported, all cancers were hormone-receptor positive and HER2 negative. All were associated with DCIS. The DCIS spanned all grades. The two cases without breast cancer still required surgery for exuberant benign changes, including papillomas, fibroadenomatoid change, florid ductal epithelial hyperplasia, adenosis ​and stromal fibrosis. We note that the morphology and receptor profiles of breast cancer in individuals with P/LP PTEN variants are not distinctive. Contrary to prevalent beliefs, these cancers do not conform to the contemporary definition of apocrine breast carcinoma. Greater familiarity of healthcare professionals with the overall clinical and pathological findings in PHTS and the validated Cleveland Clinic PTEN calculator (http://www.lerner.ccf.org/gmi/ccscore) would improve the recognition of female PHTS individuals with breast cancer. Earlier identification of their cancer predisposition syndrome would benefit these patients and their families who are at high risk of a range of cancers.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concentration of kidney markers and detection of exosomes in urine samples collected in cotton wool balls in preterm and term neonates.","authors":"Eveline Staub, Qinghua Cao, Xin-Ming Chen, Carol Pollock","doi":"10.1016/j.pathol.2024.07.006","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.07.006","url":null,"abstract":"<p><p>Collecting urine samples in neonates by catheterisation or suprapubic puncture causes trauma, whereas self-adhesive collection bags can damage fragile skin. An alternative method is the collection of samples from urine-soaked cotton wool balls placed in diapers. The aim of this study was to compare the concentration of albumin, creatinine, neutrophil gelatinase-associated lipocalin (NGAL), and uromodulin between clean-catch urine and samples collected in cotton wool balls in neonates and assess the efficiency of exosome extraction. Standard clean-catch urine samples were assayed for albumin, creatinine, NGAL, and uromodulin using commercial enzyme-linked immunosorbent assay (ELISA) kits. Concentrations were compared to the same urine samples extracted immediately from soaked cotton wool balls (sample 2, S2) or the urine extracted from cotton wool balls placed in a diaper in a warm incubator for 2 h before extraction (sample 3, S3). Exosomes were extracted from all three samples of one patient for visualisation by electron microscopy. Twenty-six infants (17 males) of median gestational age at birth of 32+1 weeks had urine collected at a median age of 29 days at 37+6 weeks corrected age. Concentrations in S2 and S3 were within 10% of the concentration of standard samples in 46% and 35% of specimens for albumin, 69% and 58% for creatinine, 12% and 12% for NGAL, and 27% and 15% for uromodulin, respectively, without consistent positive or negative bias. Urine albumin/creatinine ratios (UACRs) were 4.3% less in S2 and 4.5% less in S3 than in standard samples. Exosomes were extracted and visualised from all three sample types. Neonatal urine samples extracted from cotton wool balls can be used to screen for relevant albuminuria ​but provide imprecise estimates of NGAL and uromodulin. The proof of exosome extraction from urine collection in cotton wool balls opens the potential to examine exosomal cargo.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of commonly used equations for sodium adjustment in hyperglycaemia.","authors":"Que Lam, Nilika Wijeratne","doi":"10.1016/j.pathol.2024.07.009","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.07.009","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142546736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beyond nest size: the clinicopathological spectrum of large nested melanocytic tumours and the value of comparative genomic hybridisation and messenger RNA expression analysis.","authors":"Andrés Mosquera-Zamudio, Silvia Pérez-Debén, Saray Porcar-Saura, Germán Casabó-Vallés, Miguel Martínez-Rodríguez, María José Garzón, Eva García-López, Valery Naranjo, Carlos Monteagudo","doi":"10.1016/j.pathol.2024.08.002","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.08.002","url":null,"abstract":"<p><p>Large nested melanomas (LNMs) are a rare subtype of naevoid melanoma consisting of large junctional melanocytic nests that are more common in older individuals and/or associated with sun damage. However, the presence of large melanocytic nests alone does not lead to a diagnosis of malignancy, ​as they can also be found in melanocytic naevi. LNMs are challenging because they lack most classic histological features of malignancy and require thorough clinicopathological evaluation. This ambiguity calls for a critical reassessment of the current diagnostic criteria for the subclassification of benign or malignant within the spectrum of large nested melanocytic tumours (LNMTs). Eighteen LNMTs and six special-site melanocytic naevi (SSMNs) ​were studied using different approaches: clinical features, dermoscopy, histopathology, immunohistochemistry, array comparative genomic hybridisation (aCGH) and messenger RNA (mRNA) sequencing analysis, with the aim of identifying novel and reproducible criteria for the recognition of LNMs.Careful clinicopathological evaluation of the 18 LNMTs led to the diagnosis of seven LNMs and 11 large nested melanocytic naevi (LNMNs). Lentiginous spread and nest bridging were significantly associated with LNMs after Holm-Bonferroni correction. Asymmetry, largest nest size, poor lateral demarcation, the number of colours and dermoscopic structures, and preferentially expressed antigen in melanoma (PRAME) immunostaining were more common in LNMs but did not reach statistical significance. Four of seven LNMs and nine of 11 LNMNs lacked the BRAF V600E mutation. Regarding aCGH, no LNMN or SSMN cases had ≥3 copy number variations (CNVs), in contrast to 50% of LNM cases. Importantly, LNM and LNMN could be distinguished by differential mRNA expression of nine genes. Our study demonstrates that there is a spectrum of LNMTs and that the clinicopathological diagnosis of LNM, for which we support the term 'late-onset nested naevoid melanomas', can be significantly strengthened by the presence of lentiginous pattern, nest bridging, gene CNV and differential mRNA expression.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Solving a diagnostic challenge with nanopore long-read sequencing: a novel Alu element exonic insertion with false positive MLPA finding in SLC25A13 for citrin deficiency.","authors":"Nike Kwai Cheung Lau, Tammy Tsz Yan Tong, Yeow Kuan Chong, Chor Kwan Ching","doi":"10.1016/j.pathol.2024.07.010","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.07.010","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142546660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent DEK::AFF2 fusion squamous cell carcinoma: prompts for diagnosis of this emerging distinct entity.","authors":"Timothy Wade, Pranav Dorwal, Richard Harvey, Jonathan Williamson, Tina Baillie, Alexandra Allende","doi":"10.1016/j.pathol.2024.07.007","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.07.007","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Presence and extent of lymphovascular invasion in surgical stage I squamous cell carcinoma of the cervix: a comprehensive, international, multicentre, retrospective clinicopathological study.","authors":"Simona Stolnicu, Douglas Allison, Basile Tessier-Cloutier, Amir Momeni-Boroujeni, Lien Hoang, Antonio Ieni, Ana Felix, Cristina Terinte, Anna Pesci, Claudia Mateoiu, Anjelica Hodgson, Esther Guerra, Louise de Brot, Ricardo R Lastra, Takako Kiyokawa, Rouba Ali-Fehmi, Mira Kheil, Pavel Dundr, Andres Roma, Oluwole Fadare, Gulisa Turashvili, Esther Oliva, Kyle M Devins, Glauco Baiocchi, David Cibula, Robert A Soslow","doi":"10.1016/j.pathol.2024.07.008","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.07.008","url":null,"abstract":"<p><p>The aim of this study was to determine whether the presence and extent of lymphovascular invasion (LVI) is prognostic in surgical stage I cervical squamous cell carcinoma (SCC). All available tumour slides and/or paraffin blocks from 426 patients with stage I cervical SCC treated surgically with curative intent were collected from 18 institutions and retrospectively analysed. Presence and extent of LVI (focal <5 spaces, extensive ≥5 spaces) were assessed on scanning magnification in large haematoxylin and eosin slide sets in 366 cases. Progression-free survival (PFS) was calculated as the time from surgery to first progression or death or last follow-up, whichever occurred first. Overall survival (OS) was defined as the time from surgery to death or last follow-up. Clinicopathological and statistical analyses were performed on 97 patients with the International Federation of Gynecology and Obstetrics (FIGO) 2018 stage IA and 329 patients with stage IB SCC of the cervix. LVI, both focal and extensive, was more frequent in stage IB than in stage IA (p<0.001). Patients with stage IB carcinomas with extensive LVI had worse PFS [hazard ratio (HR) 2.86; 95% confidence interval (CI) 1.49, 5.49; p=0.005] and OS (HR 2.88; 95% CI 1.38, 6.02; p=0.012) than those with focal or no LVI. In stage IA, in contrast, the presence and extent of LVI did not associate with PFS (p=0.926) or OS. Extensive LVI was not statistically correlated with PFS and OS in substages IA1, IA2 or IB2. PFS (HR 3.7; 95% CI 1.61, 8.46; p<0.001) and OS (HR 4.18; 95% CI 1.58, 11.04; p=0.002) in stage IB1, and PFS (HR 7.78; 95% CI 0.87, 69.82; p=0.039) in stage IB3 were diminished in the presence of extensive LVI. In conclusion, in patients with FIGO stage I cervical SCC, the presence and extent of LVI has prognostic significance in stage IB carcinoma, and quantifying LVI is recommended.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142546659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidemiology and antimicrobial resistance rates for Shigella species in a resource-rich setting.","authors":"Samuel Baumgart, Thuy Phan, Genevieve McKew","doi":"10.1016/j.pathol.2024.07.004","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.07.004","url":null,"abstract":"<p><p>Shigellosis is an acute, often dysenteric, diarrhoeal illness that is responsible for much morbidity and mortality worldwide. Increasing rates of multidrug-resistant (MDR) and extensively drug-resistant (XDR) ​Shigella species have been detected worldwide and a regular review of local epidemiological and resistance rates is necessary to help guide empirical antibiotic choice. This retrospective laboratory study of faecal isolates between 2013 and 2023 demonstrates increasing rates of resistance to third-generation cephalosporins, azithromycin and ciprofloxacin, alongside an overall increase in MDR and XDR isolates.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intestinal vascular diseases misdiagnosed as Crohn ​disease: analysis of 13 cases.","authors":"Yanyan Chen, Shuyuan Xiao, Qiu Zhao","doi":"10.1016/j.pathol.2024.07.005","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.07.005","url":null,"abstract":"<p><p>Behçet ​disease (BD), enterocolic lymphocytic phlebitis (ELP), idiopathic myointimal hyperplasia of mesenteric veins (IMHMV), and mesenteric arteriovenous dysplasia/vasculopathy (MAVD/V) are rare vascular diseases (VDs) that cause bowel ischaemia, often presenting with a histological pattern resembling chronic enteritis, leading to diagnostic confusion with Crohn ​disease (CD). In this retrospective study, we compared the clinical and pathological characteristics of these VDs with those of CD. The study cohort comprised 13 patients misdiagnosed with CD but later identified as having VDs, including five, three, two, and three patients with BD, ELP, IMHMV, and MAVD/V, respectively. Moreover, 15 patients diagnosed with CD served as the control group. Data on disease history, patient demographics, symptoms and signs, endoscopic findings, clinical diagnosis, and follow-up status were collected, and the histological features of VDs were compared with those of CD. Despite substantial overlap in clinical and pathological characteristics between VDs and CD, several histological features were helpful in differentiating the two conditions. Intestinal stenosis, multisegmental disease, transmural inflammation, inflammatory polyps, submucosal lymphangiectasia, intramural abscesses, and epithelioid granulomas were significantly more frequent in patients with CD (p<0.001). In contrast, toxic ischaemic changes and vascular lesions were significantly more frequent in patients with VDs (p<0.001). The location of diseased vessels varied widely in patients with VDs, whereas vascular changes were limited to areas with more severe inflammation in those with CD. Furthermore, inflammatory cells within diseased vessels exhibited a polarised distribution in cases of CD, manifesting in two distinct patterns: pattern 1, where the inflammatory cells are densely populated in the outer layer of the vessel wall and sparsely populated in the inner layer; pattern 2, where the inflammatory cells are densely populated on the side with the ulcer and sparsely populated on the opposite side. Vascular occlusion, which was observed in all patients with VDs, was rare in those with CD. In summary, VDs and CD can be distinguished through careful histological analysis, particularly focusing on characteristics of vascular changes, in combination with medical history.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142546737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"10.1016/j.pathol.2024.09.001","DOIUrl":"10.1016/j.pathol.2024.09.001","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 7","pages":"Pages 1067-1068"},"PeriodicalIF":3.6,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142586158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}