Pub Date : 2024-07-27DOI: 10.1016/j.pathol.2024.05.010
Sarah Beck, John O'Donnell
{"title":"IgA deficiency in coeliac disease: verification of a cost-effective screening algorithm in a medical diagnostic laboratory","authors":"Sarah Beck, John O'Donnell","doi":"10.1016/j.pathol.2024.05.010","DOIUrl":"10.1016/j.pathol.2024.05.010","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 7","pages":"Pages 1038-1041"},"PeriodicalIF":3.6,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141850509","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}
Pub Date : 2024-07-25DOI: 10.1016/j.pathol.2024.07.002
Chi Sing Ng
Epstein–Barr virus (EBV) is a ubiquitous gammaherpesvirus that has been related to oncogenesis of lymphoid and epithelial malignancies. Although the mechanism of EBV infection of NK and T cells remains enigmatic, it plays a pathogenic role in various EBV+ NK-cell and T-cell lymphoproliferative diseases (LPDs), through promotion of cell activation pathways, inhibition of cell apoptotic pathways, behaving as oncogenes, interacting with host oncogenes or acting epigenetically. The study of NK-cell LPDs, previously hampered by the lack of immunophenotypical and genotypical criteria of NK cells, has become feasible with the recently accepted criteria. EBV+ NK- and T-cell LPDs are mostly of poor prognosis. This review delivers a short history from primeval to recent EBV+ NK- and T-cell LPDs in non-immunocompromised subjects, coupled with increasing interest, and work on the biological and oncogenic roles of EBV.
爱泼斯坦-巴氏病毒（EBV）是一种无处不在的γ疱疹病毒，与淋巴和上皮恶性肿瘤的致癌过程有关。尽管 EBV 感染 NK 细胞和 T 细胞的机制仍是一个谜，但它通过促进细胞活化途径、抑制细胞凋亡途径、作为致癌基因、与宿主致癌基因相互作用或通过表观遗传发挥作用，在各种 EBV+ NK 细胞和 T 细胞淋巴增生性疾病（LPDs）中发挥致病作用。以前由于缺乏 NK 细胞的免疫表型和基因型标准而阻碍了对 NK 细胞 LPD 的研究，但随着最近标准的认可，这种研究变得可行起来。EBV+ NK- 和 T 细胞 LPD 大多预后不良。这篇综述简要介绍了非免疫功能低下患者从最初到最近发生 EBV+ NK- 和 T 细胞 LPD 的历史，以及人们对 EBV 的生物学和致癌作用日益增长的兴趣和研究工作。
{"title":"From the midfacial destructive drama to the unfolding EBV story: a short history of EBV-positive NK-cell and T-cell lymphoproliferative diseases","authors":"Chi Sing Ng","doi":"10.1016/j.pathol.2024.07.002","DOIUrl":"10.1016/j.pathol.2024.07.002","url":null,"abstract":"<div><p>Epstein–Barr virus (EBV) is a ubiquitous gammaherpesvirus that has been related to oncogenesis of lymphoid and epithelial malignancies. Although the mechanism of EBV infection of NK and T cells remains enigmatic, it plays a pathogenic role in various EBV<sup>+</sup> NK-cell and T-cell lymphoproliferative diseases (LPDs), through promotion of cell activation pathways, inhibition of cell apoptotic pathways, behaving as oncogenes, interacting with host oncogenes or acting epigenetically. The study of NK-cell LPDs, previously hampered by the lack of immunophenotypical and genotypical criteria of NK cells, has become feasible with the recently accepted criteria. EBV<sup>+</sup> NK- and T-cell LPDs are mostly of poor prognosis. This review delivers a short history from primeval to recent EBV<sup>+</sup> NK- and T-cell LPDs in non-immunocompromised subjects, coupled with increasing interest, and work on the biological and oncogenic roles of EBV.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 773-785"},"PeriodicalIF":3.6,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141846374","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}
Pub Date : 2024-07-25DOI: 10.1016/j.pathol.2024.06.002
Ciselle Meier , Kharis Burns , Catherine Manolikos , Daniel Fatovich , Damon A. Bell
Acute hyperammonaemia is a medical emergency as it can progress to cerebral oedema, seizures, coma and death. Hepatic encephalopathy secondary to cirrhotic disease or portosystemic shunting are relatively well-known causes, but non-cirrhotic aetiologies of acute hyperammonaemia are less well-known, especially in the emergency department. However, an elevated ammonia is not required to make the diagnosis of hepatic encephalopathy. Although measurement of plasma ammonia is recommended for patients with acute, unexplained, altered mental status, as early identification allows early effective management which may prevent irreversible brain damage, there is currently reduced awareness among physicians of the non-cirrhotic aetiologies of acute hyperammonaemia. Furthermore, measurement of ammonia in patients with cirrhosis has been shown to have low sensitivity and specificity, and not to have altered management in the majority of cases; thus, measurement of ammonia is currently not recommended in guidelines for management of hepatic encephalopathy.
We sought to describe the pathophysiology of hyperammonaemia and review the non-cirrhotic causes. This was achieved by review of MEDLINE, PubMed and Web of Science databases to include published English literature within the last 20 years. We also present a framework for investigating the acute non-cirrhotic causes of hyperammonaemia to assist both chemical pathologists and clinicians managing these often challenging cases.
急性高氨血症是一种医疗急症，因为它会发展为脑水肿、癫痫发作、昏迷和死亡。继发于肝硬化疾病或门体系统分流的肝性脑病是比较著名的病因，但非肝硬化病因引起的急性高氨血症却不太为人所知，尤其是在急诊科。不过，肝性脑病的诊断并不需要氨升高。虽然建议对急性、不明原因、精神状态改变的患者进行血浆氨测量，因为及早发现可以及早进行有效治疗，从而避免不可逆转的脑损伤，但目前医生对急性高氨血症的非肝硬化病因的认识还不够。此外，对肝硬化患者进行氨测量的灵敏度和特异性都很低，而且在大多数情况下不会改变治疗方案；因此，目前肝性脑病治疗指南中并不推荐进行氨测量。为此，我们查阅了 MEDLINE、PubMed 和 Web of Science 数据库，包括过去 20 年内发表的英文文献。我们还提出了一个研究高氨血症急性非肝硬化病因的框架，以帮助化学病理学家和临床医生处理这些通常具有挑战性的病例。
{"title":"Hyperammonaemia: review of the pathophysiology, aetiology and investigation","authors":"Ciselle Meier , Kharis Burns , Catherine Manolikos , Daniel Fatovich , Damon A. Bell","doi":"10.1016/j.pathol.2024.06.002","DOIUrl":"10.1016/j.pathol.2024.06.002","url":null,"abstract":"<div><p>Acute hyperammonaemia is a medical emergency as it can progress to cerebral oedema, seizures, coma and death. Hepatic encephalopathy secondary to cirrhotic disease or portosystemic shunting are relatively well-known causes, but non-cirrhotic aetiologies of acute hyperammonaemia are less well-known, especially in the emergency department. However, an elevated ammonia is not required to make the diagnosis of hepatic encephalopathy. Although measurement of plasma ammonia is recommended for patients with acute, unexplained, altered mental status, as early identification allows early effective management which may prevent irreversible brain damage, there is currently reduced awareness among physicians of the non-cirrhotic aetiologies of acute hyperammonaemia. Furthermore, measurement of ammonia in patients with cirrhosis has been shown to have low sensitivity and specificity, and not to have altered management in the majority of cases; thus, measurement of ammonia is currently not recommended in guidelines for management of hepatic encephalopathy.</p><p>We sought to describe the pathophysiology of hyperammonaemia and review the non-cirrhotic causes. This was achieved by review of MEDLINE, PubMed and Web of Science databases to include published English literature within the last 20 years. We also present a framework for investigating the acute non-cirrhotic causes of hyperammonaemia to assist both chemical pathologists and clinicians managing these often challenging cases.</p></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 763-772"},"PeriodicalIF":3.6,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141848074","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}
Pub Date : 2024-07-20DOI: 10.1016/j.pathol.2024.05.006
Wei Liu , Yan-mei Cui , Xiao-jiang Wang , Xian-dong Lin , Li-bin Zhang , Jing-cheng Liu , Qing-hu Lyu , Wei Chen , Dan Hu
Lung adenocarcinoma metastatic to the ovary is rarely detected in clinical practice, and only a few cases have been reported. Its clinicopathological features, molecular genetics, and prognosis have not been well characterised. The data of 17 patients diagnosed with this disease between 2013 and 2022 were analysed retrospectively. All patients were non-smokers, with a median age of 46 years (range 30–71 years). Unilateral ovarian involvement was more frequent than bilateral involvement (58.8% vs 41.2%). Lesions presented as solid ovarian or mixed cystic and solid masses, and nearly two-thirds of the tumours (11/17, 64.7%) had a diameter greater than 10 cm. Solid adenocarcinoma was the most common histological subtype (9/17, 52.9%), and three of the cases showed abundant intracellular mucin and signet ring cells. Acinar adenocarcinoma was the second most common type (6/17, 35.3%), usually of moderate to poor differentiation. The remaining two cases were identified as micropapillary adenocarcinoma and mucinous adenocarcinoma. Multinodular growth, necrosis, and lymphovascular invasion were observed in half of the cases, and most of them had a marked stromal response. The most prevalent molecular alteration was ALK-rearranged (8/17, 47.1%), followed by EGFR gene mutations (5/17, 29.4%). A total of 34 cases, comprising 17 from the cohort and 17 from the literature, were included in the survival analysis. Patients with ALK-rearranged genes demonstrated an 80.0% 2-year overall survival rate, whereas those without ALK rearrangement exhibited a lower rate of 33.7%. Although there appears to be a potentially better prognosis for patients with ALK-rearranged genes, further cases and an extended follow-up period are necessary to substantiate this observation.
{"title":"Lung adenocarcinoma metastatic to the ovary: a retrospective clinicopathological analysis of 17 cases and literature review","authors":"Wei Liu , Yan-mei Cui , Xiao-jiang Wang , Xian-dong Lin , Li-bin Zhang , Jing-cheng Liu , Qing-hu Lyu , Wei Chen , Dan Hu","doi":"10.1016/j.pathol.2024.05.006","DOIUrl":"10.1016/j.pathol.2024.05.006","url":null,"abstract":"<div><div>Lung adenocarcinoma metastatic to the ovary is rarely detected in clinical practice, and only a few cases have been reported. Its clinicopathological features, molecular genetics, and prognosis have not been well characterised. The data of 17 patients diagnosed with this disease between 2013 and 2022 were analysed retrospectively. All patients were non-smokers, with a median age of 46 years (range 30–71 years). Unilateral ovarian involvement was more frequent than bilateral involvement (58.8% vs 41.2%). Lesions presented as solid ovarian or mixed cystic and solid masses, and nearly two-thirds of the tumours (11/17, 64.7%) had a diameter greater than 10 cm. Solid adenocarcinoma was the most common histological subtype (9/17, 52.9%), and three of the cases showed abundant intracellular mucin and signet ring cells. Acinar adenocarcinoma was the second most common type (6/17, 35.3%), usually of moderate to poor differentiation. The remaining two cases were identified as micropapillary adenocarcinoma and mucinous adenocarcinoma. Multinodular growth, necrosis, and lymphovascular invasion were observed in half of the cases, and most of them had a marked stromal response. The most prevalent molecular alteration was <em>ALK</em>-rearranged (8/17, 47.1%), followed by <em>EGFR</em> gene mutations (5/17, 29.4%). A total of 34 cases, comprising 17 from the cohort and 17 from the literature, were included in the survival analysis. Patients with <em>ALK</em>-rearranged genes demonstrated an 80.0% 2-year overall survival rate, whereas those without <em>ALK</em> rearrangement exhibited a lower rate of 33.7%. Although there appears to be a potentially better prognosis for patients with <em>ALK</em>-rearranged genes, further cases and an extended follow-up period are necessary to substantiate this observation.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 7","pages":"Pages 942-950"},"PeriodicalIF":3.6,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141846975","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}
Pub Date : 2024-07-18DOI: 10.1016/j.pathol.2024.05.005
Thibault Kervarrec , Daniel Pissaloux , Ilham Chokri , Franck Tirode , Arnaud de la Fouchardière
{"title":"MST1R/RON fusion as a potential oncogenic driver in Spitz tumours","authors":"Thibault Kervarrec , Daniel Pissaloux , Ilham Chokri , Franck Tirode , Arnaud de la Fouchardière","doi":"10.1016/j.pathol.2024.05.005","DOIUrl":"10.1016/j.pathol.2024.05.005","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 7","pages":"Pages 1051-1053"},"PeriodicalIF":3.6,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141852701","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}
Pub Date : 2024-07-15DOI: 10.1016/j.pathol.2024.05.004
Michelle Wu , Nigel Maher , Richard A. Scolyer , Alexander M. Menzies , Thomas E. Pennington
{"title":"Synchronous collision metastasis of melanoma and squamous cell carcinoma in a parotid lymph node: a very rare occurrence and literature review","authors":"Michelle Wu , Nigel Maher , Richard A. Scolyer , Alexander M. Menzies , Thomas E. Pennington","doi":"10.1016/j.pathol.2024.05.004","DOIUrl":"10.1016/j.pathol.2024.05.004","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 7","pages":"Pages 1055-1059"},"PeriodicalIF":3.6,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141698949","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}
Pub Date : 2024-07-14DOI: 10.1016/j.pathol.2024.04.014
Jun Cao , Jun Qiu , Jieyu Jin , Sheng Zhang , Jiahui Qu , Mingyue Wang , Longwei Qiao , Yuting Liang
Prolonged thrombocytopenia (PT) is a serious complication after haematopoietic stem cell transplantation (HSCT). PT has been suggested to be associated with an increased platelet transfusion requirement and poor outcomes after transplantation. Due to the complex mechanism of PT development, it is difficult to diagnose in the early post-transplant period. Our study aimed to identify an early predictive marker for PT after HSCT. Previous studies showed that the clinical utility of immature platelet fraction (IPF) predicts platelet recovery after chemotherapy and successful engraftment. However, the relationship between IPF and PT after HSCT remains unclear. Fifty-two patients with malignant haematological diseases who underwent HSCT were included in the study. We observed the kinetics of recovery of haematological parameters after transplantation and performed receiver operating characteristics (ROC) curve analysis using data from the 52 HSCT patients.
The days to rise and peak of IPF, absolute IPF count (A-IPF) and highly fluorescent IPF (H-IPF) were almost synchronised in all patients, at day 10 and day 15, respectively. The begin to rise levels of IPF, H-IPF and A-IPF were all significantly lower in the PT group than in the good engraftment (GE) group (p=0.0016, p=0.0094, p=0.0086, respectively). The peak levels of IPF were significantly lower in the PT group than the GE group (p=0.0036). However, the peaks of H-IPF and A-IPF were not statistically significant between the two groups (p=0.3383, p=0.0887, respectively). The area under the ROC curve (AUC) of IPF rise was 0.739 (95% CI 0.583–0.896; p<0.05) and the cut-off value was 3.5%, while the AUC of IPF peak was 0.800 (95% CI 0.637–0.962; p<0.01) and the cut-off value was 8.0%. In conclusion, early low levels of IPF predict the development of PT after HSCT. These findings may help improve the management and treatment strategies for PT after HSCT.
{"title":"Immature platelet fraction levels predict the development of prolonged thrombocytopenia after haematopoietic stem cell transplantation","authors":"Jun Cao , Jun Qiu , Jieyu Jin , Sheng Zhang , Jiahui Qu , Mingyue Wang , Longwei Qiao , Yuting Liang","doi":"10.1016/j.pathol.2024.04.014","DOIUrl":"10.1016/j.pathol.2024.04.014","url":null,"abstract":"<div><div>Prolonged thrombocytopenia (PT) is a serious complication after haematopoietic stem cell transplantation (HSCT). PT has been suggested to be associated with an increased platelet transfusion requirement and poor outcomes after transplantation. Due to the complex mechanism of PT development, it is difficult to diagnose in the early post-transplant period. Our study aimed to identify an early predictive marker for PT after HSCT. Previous studies showed that the clinical utility of immature platelet fraction (IPF) predicts platelet recovery after chemotherapy and successful engraftment. However, the relationship between IPF and PT after HSCT remains unclear. Fifty-two patients with malignant haematological diseases who underwent HSCT were included in the study. We observed the kinetics of recovery of haematological parameters after transplantation and performed receiver operating characteristics (ROC) curve analysis using data from the 52 HSCT patients.</div><div>The days to rise and peak of IPF, absolute IPF count (A-IPF) and highly fluorescent IPF (H-IPF) were almost synchronised in all patients, at day 10 and day 15, respectively. The begin to rise levels of IPF, H-IPF and A-IPF were all significantly lower in the PT group than in the good engraftment (GE) group (<em>p</em>=0.0016, <em>p</em>=0.0094, <em>p</em>=0.0086, respectively). The peak levels of IPF were significantly lower in the PT group than the GE group (<em>p</em>=0.0036). However, the peaks of H-IPF and A-IPF were not statistically significant between the two groups (<em>p</em>=0.3383, <em>p</em>=0.0887, respectively). The area under the ROC curve (AUC) of IPF rise was 0.739 (95% CI 0.583–0.896; <em>p</em><0.05) and the cut-off value was 3.5%, while the AUC of IPF peak was 0.800 (95% CI 0.637–0.962; <em>p</em><0.01) and the cut-off value was 8.0%. In conclusion, early low levels of IPF predict the development of PT after HSCT. These findings may help improve the management and treatment strategies for PT after HSCT.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 7","pages":"Pages 1000-1006"},"PeriodicalIF":3.6,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141713574","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}
Pub Date : 2024-07-14DOI: 10.1016/j.pathol.2024.05.003
Noni Chan , Sewon Kim , Vivek Rathi , Warick Delprado , Ashan Canagasingham , Venu Chalasani , Christopher Toon
{"title":"Adenomatoid tumour with perineural space involvement: the utility of next-generation sequencing in this diagnostic conundrum","authors":"Noni Chan , Sewon Kim , Vivek Rathi , Warick Delprado , Ashan Canagasingham , Venu Chalasani , Christopher Toon","doi":"10.1016/j.pathol.2024.05.003","DOIUrl":"10.1016/j.pathol.2024.05.003","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"56 6","pages":"Pages 925-927"},"PeriodicalIF":3.6,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141715430","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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号