المؤلفون: Deng, Jing, Zuo, Xiaona, Yang, Liuyi, Gao, Zifen, Zhou, Chunju, Guo, Ligai

المصدر: Frontiers in Oncology ; volume 13 ; ISSN 2234-943X

مصطلحات موضوعية: Cancer Research, Oncology

الوصف: Objective To retrospectively analyze the reasons for misdiagnosis of haematolymphoid neoplasms and provide experience for improving the diagnostic level in China. Methods A retrospective analysis was performed on 2291 cases of haematolymphoid diseases evaluated by the Department of Pathology of our hospital from 1 July 2019 to 30 June 2021. All 2291 cases were reviewed by two hematopathologist experts and classified according to the 2017 revised WHO classification criteria, supplemented immunohistochemistry (IHC), molecular biology and genetic information as needed. The diagnostic discordance between primary and expert review was evaluated. The possible causes of the diagnostic discrepancies were analyzed for each step involved in the procedure of diagnosis. Results In total, 912 cases did not conform to the expert diagnoses among all the 2291 cases, with a total misdiagnosis rate of 39.8%. Among them, misdiagnosis between benign and malignant lesions accounted for 24.3% (222/912), misdiagnosis between haematolymphoid neoplasms and non-haematolymphoid neoplasms accounted for 3.3% (30/912), misdiagnosis among lineages accounted for 9.3% (85/912), misclassification in lymphoma subtypes accounted for 60.8% (554/912), and other misdiagnoses among benign lesions accounted for 2.3% (21/912) of cases, among which misclassification of lymphoma subtypes was the most common. Conclusion The accurate diagnosis of haematolymphoid neoplasms is challenging, involving various types of misdiagnosis and complicated causes, however, it is important for precise treatment. Through this analysis, we aimed to highlight the importance of accurate diagnosis, avoid diagnostic pitfalls and to improve the diagnostic level in our country.

الإتاحة: https://doi.org/10.3389/fonc.2023.1128636Test

المؤلفون: Zhang, Xiaowei, Wu, Yuchen, Sun, Xuefei, Cui, Qu, Bai, Xueyan, Dong, Gehong, Gao, Zifen, Wang, Yaming, Gao, Chunji, Sun, Shengjun, Ji, Nan, Liu, Yuanbo

المصدر: BMC Cancer ; volume 22, issue 1 ; ISSN 1471-2407

مصطلحات موضوعية: Cancer Research, Genetics, Oncology

الوصف: Background Primary central nervous system lymphoma (PCNSL) is a specific subtype of non-Hodgkin lymphoma that is highly invasive and confined to the central nervous system (CNS). The vast majority of PCNSLs are diffuse large B-cell lymphomas (DLBCLs). PCNSL is a highly heterogeneous disease, and its pathogenesis has not yet been fully elucidated. Further studies are needed to guide individualized therapy and improve the prognosis. Methods In this study, we detected 1) the expression of p-AKT, p-mTOR, p-S6 and p-4E-BP1 by immunohistochemistry (IHC) and Western blotting, 2) the mRNA expression by real-time qPCR and 3) the deletion of PTEN gene by immunofluorescence in situ hybridization (FISH) in order to investigate the activation status of the PI3K/AKT/mTOR signaling pathway in PCNSL. Samples of reactive hyperplasia lymphnods were used as the control group. The correlations between the clinical characteristics and prognosis of PCNSL patients and the expression of p-AKT, p-mTOR, p-S6 and p-4E-BP1 and the deletion of PTEN were assessed. Results The IHC results showed that the positive expression rates of p-AKT, p-mTOR, p-S6 and p-4E-BP1 in PCNSL were significantly higher in the PCNSL group than in the control group ( P < 0.05). The relative mRNA expression level of MTOR in PCNSL samples was significantly increased ( P = 0.013). Correlation analysis revealed that the expression of p-mTOR was correlated with that of p-AKT, p-S6, p-4E-BP1. PTEN deletion was found in 18.9% of PCNSL samples and was correlated with the expression of p-AKT ( P = 0.031). Correlation analysis revealed that the PCNSL relapse rate in the p-mTOR-positive group was 64.5%, significantly higher than that in the negative group ( P = 0.001). Kaplan-Meier survival analysis showed inferior progression-free survival (PFS) in the p-mTOR- and p-S6-positive groups ( P = 0.002 and 0.009, respectively), and PTEN deletion tended to be related to shorter overall survival (OS) ( P = 0.072). Cox regression analysis revealed p-mTOR expression as an ...

الإتاحة: https://doi.org/10.1186/s12885-022-09275-zTest

المؤلفون: Huang, Xin, Liu, Dan, Gao, Zifen, Liu, Cuiling

المصدر: Frontiers in Oncology ; volume 11 ; ISSN 2234-943X

مصطلحات موضوعية: Cancer Research, Oncology

الوصف: Background X-linked immunodeficiency with magnesium defect and Epstein-Barr virus infection and neoplasia (XMEN) disease is an X-linked genetic disorder of immune system caused by loss-of-function mutation in gene encoding Magnesium transporter 1 (MAGT1). Individuals with XMEN disease are prone to developing Epstein Barr Virus (EBV)-associated lymphomas. Herein, we report the first known case of an EBV+ EMZL associated with XMEN disease. Case presentation The patient was an 8-year-old Chinese boy who suffered from recurrent infections from birth. Six months before, the patient presented with a painless mass on his upper lip and excisional biopsy revealed an EBV-positive extra-nodal marginal zone lymphoma (EBV+ EMZL). Furthermore, molecular investigations with next-generation sequencing identified a novel germline mutation in MAGT1 (c.828_829insAT) in the patient. The c.828_829insAT variant was predicted to cause premature truncation of MAGT1 (p.A277M.fs*11) and consequently was defined as likely pathogenic. The mutation was inherited from his asymptomatic heterozygous carrier mother. Hence the patient was diagnosed with an XMEN disease both clinically and genetically. Conclusion Our results expand the genetic spectrum of XMEN disease and also the clinical spectrum of EBV+ EMZL. We highlight the importance of the genetic etiology underlying EBV+ lymphoma in the pediatric population.

الإتاحة: https://doi.org/10.3389/fonc.2021.653266Test

المؤلفون: Li, Jia, He, Xue, Yuan Yuan, Zhang, Wei, Li, Xue, Zhang, Yuhua, Li, Shaoxiang, Guan, Chunyan, Gao, Zifen, Dong, Gehong

المصدر: American Journal of Infection Control ; volume 49, issue 1, page 82-89 ; ISSN 0196-6553

مصطلحات موضوعية: Infectious Diseases, Public Health, Environmental and Occupational Health, Health Policy, Epidemiology

الإتاحة: https://doi.org/10.1016/j.ajic.2020.06.008Test
https://api.elsevier.com/content/article/PII:S0196655320303692?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0196655320303692?httpAccept=text/plainTest

المؤلفون: Yao, Wen‐Qing, Wu, Fangtian, Zhang, Wenyan, Chuang, Shih‐Sung, Thompson, Joe S, Chen, Zi, Zhang, Shao‐Wei, Clipson, Alexandra, Wang, Ming, Liu, Hongxiang, Bibawi, Hani, Huang, Yuanxue, Campos, Luis, Grant, John W, Wright, Penny, EI‐Daly, Hesham, Rásó‐Barnett, Lívia, Farkas, Lorant, Follows, George A, Gao, Zifen, Attygalle, Ayoma D, Ashton‐Key, Margaret, Liu, Weiping, Du, Ming‐Qing

المساهمون: Bloodwise, Pathological Society of Great Britain and Ireland

المصدر: The Journal of Pathology ; volume 250, issue 3, page 346-357 ; ISSN 0022-3417 1096-9896

الوصف: Angioimmunoblastic T‐cell lymphoma (AITL) is a neoplastic proliferation of T follicular helper cells with clinical and histological presentations suggesting a role of antigenic drive in its development. Genetically, it is characterized by a stepwise acquisition of somatic mutations, with early mutations involving epigenetic regulators ( TET2 , DNMT3A ) and occurring in haematopoietic stem cells, with subsequent changes involving signaling molecules ( RHOA , VAV1 , PLCG1, CD28 ) critical for T‐cell biology. To search for evidence of potential oncogenic cooperation between genetic changes and intrinsic T cell receptor (TCR) signaling, we investigated somatic mutations and T‐cell receptor β (TRB) rearrangement in 119 AITL, 11 peripheral T‐cell lymphomas with T follicular helper phenotype (PTCL‐TFH), and 25 PTCL‐NOS using Fluidigm polymerase chain reaction (PCR) and Illumina MiSeq sequencing. We confirmed frequent TET2 , DNMT3A , and RHOA mutations in AITL (72%, 34%, 61%) and PTCL‐TFH (73%, 36%, 45%) and showed multiple TET2 mutations (2 or 3) in 57% of the involved AITL and PTCL‐TFH. Clonal TRB rearrangement was seen in 76 cases with multiple functional rearrangements (2–4) in 18 cases (24%). In selected cases, we confirmed bi‐clonal T‐cell populations and further demonstrated that these independent T‐cell populations harboured identical TET2 mutations by using BaseScope in situ hybridization, suggesting their derivation from a common TET2 mutant progenitor cell population. Furthermore, both T‐cell populations expressed CD4. Finally, in comparison with tonsillar TFH cells, both AITL and PTCL‐TFH showed a significant overrepresentation of several TRB variable family members, particularly TRBV19*01. Our findings suggest the presence of parallel neoplastic evolutions from a common TET2 mutant haematopoietic progenitor pool in AITL and PTCL‐TFH, albeit to be confirmed in a large series of cases. The biased TRBV usage in these lymphomas suggests that antigenic stimulation may play an important role in ...

الإتاحة: https://doi.org/10.1002/path.5376Test

المؤلفون: Xu, Jiaosheng, Huang, Xin, Wen, Yang, Pan, Zenggang, Lian, Hongyun, Zhao, Mutong, Li, Min, Duan, Zejun, Zhang, Yanping, Zhang, Gaolei, Qi, Xueling, Tang, Jianping, Xu, Zigang, Gao, Zifen, Fu, Libing, Ma, Lin

المساهمون: Beijing Municipal Administration of Hospitals

المصدر: Journal of the American Academy of Dermatology ; volume 88, issue 3, page 656-659 ; ISSN 0190-9622

مصطلحات موضوعية: Dermatology

الإتاحة: https://doi.org/10.1016/j.jaad.2020.08.053Test
https://api.elsevier.com/content/article/PII:S0190962220324452?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0190962220324452?httpAccept=text/plainTest

المؤلفون: Zhang, Xiaowei, Wu, Yuchen, Sun, Xuefei, Cui, Qu, Bai, Xueyan, Dong, Gehong, Gao, Zifen, Wang, Yaming, Gao, Chunji, Sun, Shengjun, Ji, Nan, Liu, Yuanbo

الوصف: Additional file 1: Supplementary Table S1. Primer sequences for qPCR.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c28b498f65e08cb64deb3de8fe7403fTest

المؤلفون: Zhang, Xiaowei, Wu, Yuchen, Sun, Xuefei, Cui, Qu, Bai, Xueyan, Dong, Gehong, Gao, Zifen, Wang, Yaming, Gao, Chunji, Sun, Shengjun, Ji, Nan, Liu, Yuanbo

الوصف: Additional file 3: Supplementary Figure 1.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d511fa279809b47dc67a90a1973dcfa3Test

المؤلفون: Zhang, Xiaowei, Wu, Yuchen, Sun, Xuefei, Cui, Qu, Bai, Xueyan, Dong, Gehong, Gao, Zifen, Wang, Yaming, Gao, Chunji, Sun, Shengjun, Ji, Nan, Liu, Yuanbo

الوصف: Additional file 2: Supplementary Table S2. Clinical characteristics and prognosis of PCNSL patients and their correlations with the protein expression of p-AKT, p-mTOR, p-S6, p-4E-BP1 and the loss of PTEN.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::184b6fa3f5e6e6ab6f9592cda3666197Test

المؤلفون: Zhao, Yingying, Lu, Min, Lau, Lok Ting, Lu, Jie, Gao, Zifen, Liu, Jinhua, Yu, Albert Cheung Hoi, Cao, Qi, Ye, Juxiang, McNutt, Michael A., Gu, Jiang

المصدر: Clinical Infectious Diseases, 2008 Dec . 47(12), 1575-1578.

الوصول الحر: https://www.jstor.org/stable/40308330Test