Pathology最新文献

{"title":"Unlocking the power of laboratory medicine: creating virtual biorepositories in the electronic health record to improve sepsis detection","authors":"Octavia Peck Palmer","doi":"10.1016/j.pathol.2024.12.032","DOIUrl":"10.1016/j.pathol.2024.12.032","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S7"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143104817","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":"TOF mass spectrometry of proteins: variant identification, glycosylation and glycation","authors":"Jordyn A. Moore","doi":"10.1016/j.pathol.2024.12.034","DOIUrl":"10.1016/j.pathol.2024.12.034","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S7"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143104819","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":"From the marrow to the blood: optimising the diagnosis of iron deficiency in the setting of inflammation","authors":"David Richardson ,&nbsp;Karryn Brown ,&nbsp;Jody Rusch ,&nbsp;Estelle Verburgh ,&nbsp;Vernon Louw ,&nbsp;Jessica Opie","doi":"10.1016/j.pathol.2024.06.015","DOIUrl":"10.1016/j.pathol.2024.06.015","url":null,"abstract":"<div><div>Iron deficiency (ID) is a common condition with readily available treatment but can be challenging to diagnose. Traditional biomarkers of ID are acute-phase reactants, which complicate diagnosis in patients with co-existent inflammation. This study aimed to establish optimal biomarker diagnostic thresholds for ID diagnosis using bone marrow (BM) iron stores as the gold standard and the C-reactive protein (CRP) as an inflammatory marker. A cross-sectional study was carried out in the haematology department of a tertiary academic hospital. Patients undergoing BM biopsies for any reason were recruited for inclusion. Retrospective case finding was used to enrich the data for cases with confirmed BM ID. Laboratory markers including red cell indices, reticulocyte haemoglobin and iron studies were evaluated to establish optimal cut-offs for ID diagnosis. A CRP of &gt;5 mg/L was used as a marker of inflammation. The study included 139 patients. Forty-two had BM ID, with a median serum ferritin (SF) of 48.5 μg/L. Ninety-six of 134 (72%) had inflammation with a CRP &gt;5 mg/L. An SF of &lt;80 μg/L had optimal sensitivity (69%) and specificity (94%) for ID diagnosis in the whole group (odds ratio 23.5; 95% confidence interval 4.3–129). In patients without inflammation, an SF cut-off of 80 μg/L had high sensitivity (93%) and specificity (96%). An SF &lt;200 μg/L indicated ID in those with inflammation (sensitivity 78%, specificity 74%). A transferrin saturation of &lt;13% in those with inflammation increased the diagnostic specificity (92%). The reticulocyte haemoglobin was unhelpful in diagnosing ID in this setting. In this hospital population, SF was the best parameter to diagnose ID, even in the presence of inflammation. The CRP was useful to identify populations with inflammation in whom higher SF thresholds could be used together with the transferrin saturation to accurately diagnose ID.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 1","pages":"Pages 87-93"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","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 ,&nbsp;Silvia Pérez-Debén ,&nbsp;Saray Porcar-Saura ,&nbsp;Germán Casabó-Vallés ,&nbsp;Miguel Martínez-Rodríguez ,&nbsp;María José Garzón ,&nbsp;Eva García-López ,&nbsp;Valery Naranjo ,&nbsp;Carlos Monteagudo","doi":"10.1016/j.pathol.2024.08.002","DOIUrl":"10.1016/j.pathol.2024.08.002","url":null,"abstract":"<div><div>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 <em>BRAF</em> 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.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 1","pages":"Pages 40-48"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare case of coccidioidomycosis in Singapore and challenges faced with laboratory diagnosis in a non-endemic area","authors":"Shireen Yan Ling Tan ,&nbsp;Dorothy Hui Lin Ng ,&nbsp;Mei Gie Tan ,&nbsp;Geraldine Xue Qin Goh ,&nbsp;Delphine Yan Hong Cao ,&nbsp;Ai Ling Tan ,&nbsp;Yen Ee Tan","doi":"10.1016/j.pathol.2024.08.009","DOIUrl":"10.1016/j.pathol.2024.08.009","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 1","pages":"Pages 109-112"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625655","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":"Aztreonam and ceftazidime–avibactam overlay in extensively drug-resistant blaNDM-5, blaKPC-2 and blaOXA-181 carbapenemase-producing ​Klebsiella pneumoniae","authors":"Georgia Koos ,&nbsp;Sophia Rizzo ,&nbsp;Steven Siarakas ,&nbsp;John Merlino","doi":"10.1016/j.pathol.2024.07.003","DOIUrl":"10.1016/j.pathol.2024.07.003","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 1","pages":"Pages 107-109"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591113","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":"Pathologists' integration of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome","authors":"Gelareh Farshid ,&nbsp;S. Jan Ibbetson ,&nbsp;Malcolm Pradhan ,&nbsp;Nicholas David Manton ,&nbsp;Andrew Dubowsky ,&nbsp;Nicola Kazia Poplawski","doi":"10.1016/j.pathol.2024.08.003","DOIUrl":"10.1016/j.pathol.2024.08.003","url":null,"abstract":"<div><div>PTEN hamartoma tumour syndrome (PHTS) is a rare cancer predisposition syndrome, caused chiefly by pathogenic and likely pathogenic (P/LP) variants in in the <em>PTEN</em> gene. Carriers have substantially elevated risks of various malignancies and develop benign lesions in multiple organ systems. The rarity of this disease, the decades-long unfolding of its clinical features, involvement of multiple sites and the absence of distinguishing features of each lesion hamper the identification of this condition, limiting opportunities for screening of affected individuals and their families. Given laboratory information systems are the repositories of patients' biopsies, we are interested in whether PHTS patients' prior biopsies may serve as clues to the possibility of this syndrome. With ethics committee approval, through a collaboration amongst our state-wide Adult Genetics Unit and all pathology laboratories in our state, we have undertaken a 28-year longitudinal survey (1990–2018) of the biopsy histories of 12 women known to have P/LP <em>PTEN</em> variants. Only one woman had a family history of Cowden syndrome, with the remaining 11 patients' mutations being discovered later. The earliest biopsy was at age 19. The most common finding was the development of multiple benign mucocutaneous lesions, with 10 women presenting with these, including a range of benign vascular lesions (eight patients), various fibromatous lesions of the skin and mucosal sites (six patients), a ganglioneuroma and a juvenile polyp. Ten women developed breast cancer, only four before the age of 40. Seven women developed a second breast cancer, two synchronously and five at intervals of 3–11 years. Other neoplasms included endometrial carcinoma (two patients) and dysplastic cerebellar gangliocytoma (three patients). Integrating the biopsy histories of <em>PTEN</em> P/LP variant carriers over time may assist in raising the possibility of an underlying cancer susceptibility syndrome, so appropriate clinical and genetic counselling and evaluation may be considered.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 1","pages":"Pages 65-71"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682376","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":"Cribriform intraductal carcinoma of the prostate may be more aggressive than cribriform conventional/acinar prostatic adenocarcinoma: counterintuitive finding needs validation","authors":"Murali Varma ,&nbsp;Theodorus H. van der Kwast","doi":"10.1016/j.pathol.2024.10.001","DOIUrl":"10.1016/j.pathol.2024.10.001","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 1","pages":"Pages 1-2"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142740036","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":"Aviation deaths – standards and clinical guidance for medical evidence","authors":"Kate Manderson ,&nbsp;Cheryl Charlwood","doi":"10.1016/j.pathol.2024.12.069","DOIUrl":"10.1016/j.pathol.2024.12.069","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Pages S13-S14"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143132078","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":"Non-coding variants in rare disease","authors":"Nicola Whiffin","doi":"10.1016/j.pathol.2024.12.002","DOIUrl":"10.1016/j.pathol.2024.12.002","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"57 ","pages":"Page S1"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143090602","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}