Pathology最新文献

{"title":"A rare case of coccidioidomycosis in Singapore and challenges faced with laboratory diagnosis in a non-endemic area.","authors":"Shireen Yan Ling Tan, Dorothy Hui Lin Ng, Mei Gie Tan, Geraldine Xue Qin Goh, Delphine Yan Hong Cao, Ai Ling Tan, 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":" ","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":"From the marrow to the blood: optimising the diagnosis of iron deficiency in the setting of inflammation.","authors":"David Richardson, Karryn Brown, Jody Rusch, Estelle Verburgh, Vernon Louw, Jessica Opie","doi":"10.1016/j.pathol.2024.06.015","DOIUrl":"10.1016/j.pathol.2024.06.015","url":null,"abstract":"<p><p>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 >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 >5 mg/L. An SF of <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 <200 μg/L indicated ID in those with inflammation (sensitivity 78%, specificity 74%). A transferrin saturation of <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.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","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":"","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, S Jan Ibbetson, Malcolm Pradhan, Nicholas David Manton, Andrew Dubowsky, Nicola Kazia Poplawski","doi":"10.1016/j.pathol.2024.08.003","DOIUrl":"10.1016/j.pathol.2024.08.003","url":null,"abstract":"<p><p>PTEN hamartoma tumour syndrome (PHTS) is a rare cancer predisposition syndrome, caused chiefly by pathogenic and likely pathogenic (P/LP) variants in in the PTEN 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 PTEN 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 PTEN 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.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","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":"Aztreonam and ceftazidime-avibactam overlay in extensively drug-resistant bla_NDM-5, bla_KPC-2 and bla_OXA-181 carbapenemase-producing ​Klebsiella pneumoniae.","authors":"Georgia Koos, Sophia Rizzo, Steven Siarakas, 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":" ","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":"Cribriform intraductal carcinoma of the prostate may be more aggressive than cribriform conventional/acinar prostatic adenocarcinoma: counterintuitive finding needs validation.","authors":"Murali Varma, 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":" ","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":"Thymic blue melanoma arising on an extracutaneous blue naevus.","authors":"Rémi Vergara, Paul Cirotteau, Marion Marty, Romain Hustache, Caroline Dutriaux, Fanny Beltzung, Arnaud de la Fouchardière","doi":"10.1016/j.pathol.2024.06.017","DOIUrl":"10.1016/j.pathol.2024.06.017","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":"134-139"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505682","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":"10.1016/j.pathol.2024.07.010","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":"116-120"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","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":"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":"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":"57-64"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","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":"Recurrent DEK::AFF2 fusion squamous cell carcinoma: prompts for diagnosis of this emerging distinct entity.","authors":"Timothy Wade, Pranav Dorwal, Richard J Harvey, Jonathan Williamson, Tina Baillie, Alexandra Allende","doi":"10.1016/j.pathol.2024.07.007","DOIUrl":"10.1016/j.pathol.2024.07.007","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":"131-134"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","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":"Epstein-Barr virus-associated smooth muscle tumour following immunosuppression for systemic lupus erythematosus.","authors":"David Patton, Andrew Carr, Winnie W Y Tong, Fiona Maclean, Julia P Low","doi":"10.1016/j.pathol.2024.08.006","DOIUrl":"10.1016/j.pathol.2024.08.006","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":"126-128"},"PeriodicalIF":3.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625677","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}