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":"https://doi.org/10.1016/j.pathol.2024.08.009","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-10-19","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":"New challenges for HIV testing in the setting of long-acting cabotegravir pre-exposure prophylaxis.","authors":"Eloise Williams, Doris Chibo, Jodie D'Costa, Suellen Nicholson, Kathy Jackson, Chuan K Lim, Deborah A Williamson","doi":"10.1016/j.pathol.2024.08.011","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.08.011","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625769","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":"Unexpected concurrent B-lymphoblastic leukaemia and untreated chronic lymphocytic leukaemia presenting as worsening thrombocytopenia: a rare case report.","authors":"Amy Song, Julie Y Li","doi":"10.1016/j.pathol.2024.08.010","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.08.010","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625770","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":"Evaluation of a customised Sensititre YeastOne plate containing isavuconazole for antifungal susceptibility testing in Singapore.","authors":"Wenjie Huang, Geraldine Xue Qin Goh, Mei Gie Tan, Jing Sen Chua, Samantha Hui Wen Tan, Yen Ee Tan","doi":"10.1016/j.pathol.2024.08.005","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.08.005","url":null,"abstract":"<p><p>This study evaluated the performance of a customised Sensititre YeastOne (SYO) plate including isavuconazole (YIT) against existing practice (comprising SYO YO10 plate and isavuconazole gradient strip) in order to streamline the workflow for antifungal susceptibility testing in a tertiary hospital in Singapore. A total of 101 (51 yeasts and 50 moulds) clinical isolates were included for analysis. Isolates included in the study were recovered from a variety of body sites and reflected the case mix encountered in daily practice. Antifungal susceptibility testing was performed using three methods: YO10, YIT and gradient diffusion strip (for isavuconazole only). Reproducibility, essential agreement (EA) and categorical agreement (CA) were calculated. When YO10 and YIT plates were compared, the reproducibility was 100% for eight common antifungals. The CA was >97% for all antifungals except for amphotericin B (89.4%), but this was attributed to seven isolates with minimum inhibitory concentrations bordering the wild-type (WT) cut-off. The EA obtained when testing isavuconazole using YIT versus gradient diffusion was 77.2% overall, 90.2% for yeasts and 64% for moulds. In conclusion, the YIT plate is suitable for antifungal susceptibility testing of yeasts in our laboratory. Its use for mould isolates needs to be monitored further.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625678","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":"https://doi.org/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":""},"PeriodicalIF":3.6,"publicationDate":"2024-10-16","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":"Immunoprecipitation assays for the detection of specific extractable nuclear antigen ​autoantibodies: a role in the modern immunology laboratory?","authors":"Dimitra Beroukas, Peter J Roberts-Thomson, Tom P Gordon, Adrian Y S Lee","doi":"10.1016/j.pathol.2024.08.008","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.08.008","url":null,"abstract":"","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":"142625683","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":"https://doi.org/10.1016/j.pathol.2024.08.006","url":null,"abstract":"","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":"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}

{"title":"Challenges of platelet electron microscopy in the diagnosis of platelet delta storage pool disorder.","authors":"Antoinette Runge, Jane Mason","doi":"10.1016/j.pathol.2024.08.007","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.08.007","url":null,"abstract":"","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":"142625659","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":"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}