Pathology最新文献

{"title":"Fumarate hydratase-deficient renal cell carcinoma: a single institution-based study of 29 patients by clinicopathological, immunohistochemical and genetic approaches.","authors":"Seokhyeon Lee, Bohyun Kim, Jeong Hwan Park, Kyung Chul Moon","doi":"10.1016/j.pathol.2024.08.013","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.08.013","url":null,"abstract":"<p><p>Fumarate hydratase (FH)-deficient renal cell carcinoma (RCC) is a renal neoplasm associated with FH loss, aggressive behaviour, and poor survival. We present a histopathological and immunohistochemical overview of FH-deficient RCC to infer significant features for its differential diagnosis. In this study, FH-deficient RCC tissue samples from patients who underwent surgical resection or biopsy at a single institution between July 1995 and August 2022 were reviewed by conventional haematoxylin and eosin staining, immunohistochemistry, and whole genome analyses. Twenty-nine FH-deficient RCC specimens were examined ​based on immunohistochemistry findings regarding FH and S-(2-succino)cysteine (2SC). The histopathological findings included conspicuous nucleoli with a perinucleolar halo, resembling viral inclusion, eosinophilic cytoplasm, papillary and tubular growth patterns, and lack of stromal foam cell collection. Some tumours showed desmoplastic stroma, tumour-infiltrating lymphocytes, and solid growth pattern. One tumour presented low-grade oncocytic-like histomorphology. Widespread negativity for CD10, keratin 7, keratin 20, anaplastic lymphoma kinase, and GATA3 were observed in 24 specimens. All samples were positive for paired box gene 8, and the level of alpha-methylacyl-CoA racemase expression was variable. Whole exome sequencing of 19 tumours revealed nonsynonymous mutations, including missense mutations, splice donors, splice acceptors, frameshifts, and deletions in 15 tumours. Eleven tumours showed novel mutations. In conclusion, results revealed generally unfavourable clinical presentations and outcomes with a diverse range of FH mutations. These findings, along with the histopathological and immunohistochemical features, can be used to guide diagnosis and treatment.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142755472","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":"Establishment of a clinical model based on vessels encapsulating tumour clusters that could efficiently predict recurrence of patients with hepatocellular carcinoma after curative hepatectomy.","authors":"Meilong Wu, Ying Xiao, Yan Wang, Lingna Deng, Xiaojuan Wang, Tailai An","doi":"10.1016/j.pathol.2024.08.014","DOIUrl":"https://doi.org/10.1016/j.pathol.2024.08.014","url":null,"abstract":"<p><p>According to previous studies, vessels encapsulating tumour clusters (VETC) could promote metastasis of hepatocellular carcinoma (HCC) in a manner independent from epithelial-mesenchymal transition (EMT). However, the prognostic significance of VETC among patients undergoing curative hepatectomy has not been fully explored. This study was performed to assess the prognostic significance of VETC among patients with HCC undergoing curative hepatectomy. A total of 81 patients were included in this study. A predictive model based on VETC was established, then this model was compared with the American Joint Committee on Cancer, Tumor Node Metastasis (AJCC TNM) stage and Barcelona Clinic Liver Cancer (BCLC) system. It was revealed by multivariate Cox regression analysis that a high neutrophil-to-lymphocyte ratio (NLR) [p=0.013, hazard ratio (HR)=6.175, 95% confidence interval (CI) 1.468-25.977], number of tumours (p<0.001, HR=4.119, 95% CI 1.886-8.995) and VETC positivity (p=0.010, HR=2.440, 95% CI 1.235-4.821) were independent predictive factors for disease-free survival (DFS). Additionally, by Kaplan-Meier analysis, we revealed that VETC positivity was associated with worse DFS (p=0.018). The clinical predictive model combining the NLR, number of tumours, and VETC was compared with AJCC TNM stage and BCLC classification system by performing time-dependent receiver operating curve (td-ROC) analysis, revealing that the clinical predictive model was superior to AJCC TNM stage and BCLC system at different timepoints. Additionally, we demonstrated that the clinical model could well predict DFS by plotting calibration curves. VETC could be utilised as an efficient prognostic factor for HCC and the clinical predictive model combining the NLR, number of tumours, and VETC was superior to AJCC TNM stage and BCLC system in predicting cancer recurrence.</p>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818876","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":"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}