中国实验血液学杂志最新文献

{"title":"[Expression and Clinical Significance of <i>LINC00475</i> in Multiple Myeloma].","authors":"Ling Lu, Dan Guo, Le-Min Hong, Yu-Wen Jiang, Hong-Ming Fan, Chun-Qun Huang, Jin-Feng Lu, Jie Chen, Hong-Hui Xu, Hong-Ming Huang","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.020","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.020","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the relative expression level and clinical significance of <i>LINC00475</i> in serum of patients with multiple myeloma (MM).</p><p><strong>Methods: </strong>The expression of <i>LINC00475</i> in serum of 108 MM patients and five MM cell lines including RPMI 8226, NCI-H929, U266, OPM2 and CAG were detected by real-time fluorescence quantitative PCR. The diagnostic value of <i>LINC00475</i> in MM was evaluated by receiver operating characteristic (ROC) curve analysis. The correlation of <i>LINC00475</i> with patients' characteristics was analyzed.</p><p><strong>Results: </strong>Compared with control groups, the expression of <i>LINC00475</i> was up-regulated in serum of MM patients and MM cell lines (all <i>P</i> < 0.05). ROC curve analysis showed that the optimal cut-off value of <i>LINC00475</i> was 262.4, the area under curve (AUC) was 0.924(95%<i>CI</i> : 0.884-0.964), and sensitivity and specificity was 83.3% and 91.7%, respectively, which indicated that <i>LINC00475</i> had good evaluation value in MM patients. Compared with low-<i>LINC00475</i> expression group, patients in high-<i>LINC00475</i> expression group had higher levels of β₂microglobulin (β₂-MG) and Cystatin C (Cys-C) but lower albumin (ALB) (all <i>P</i> < 0.05). Compared with MM patients with International Staging System (ISS) stage I, the expression level of <i>LINC00475</i> was significantly higher in patients with stage II and III (both <i>P</i> < 0.05).</p><p><strong>Conclusion: </strong><i>LINC00475</i> is helpful to distinguish MM patients from healthy adults, which is correlated with the prognostic indicators such as β₂-MG, ALB, and ISS stage.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[The Efficacy and Influencing Factors of Cyclosporine Alone in the Treatment of Children with Acquired Aplastic Anemia].","authors":"Hong-Cheng Qin, Xian-Min Guan, Yan-Ni Hu, Xiao-Ying Lei, Ying Dou, Jie Yu, Xian-Hao Wen","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.029","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.029","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the efficacy and influencing factors of cyclosporine (CsA) alone in the treatment of children with acquired aplastic anemia (AA).</p><p><strong>Methods: </strong>The clinical data of children diagnosed with AA and treated with CsA alone from January 1, 2016 to December 31, 2020 in the Children's Hospital of Chongqing Medical University were collected, and the efficacy and influencing factors of CsA treatment were evaluated.</p><p><strong>Results: </strong>Among the 119 patients, there were 62 male and 57 female, with a median age of 7 years and 1 month. There were 45 cases of very severe AA (VSAA), 47 cases of severe AA (SAA), and 27 cases of non-severe AA (NSAA). At 6 months after treatment, the efficacy of VSAA was lower than that of SAA and NSAA, and there was a statistical difference (<i>P</i> < 0.01). 6 cases died early, 16 cases relapsed, 2 cases progressed to AML and ALL. The results of univariate analysis showed that the high proportion of lymphocyte in the bone marrow at 6 months was an adverse factor for the efficacy of CsA, while high PLT count was a protective factor (<i>P</i> =0.008, <i>P</i> =0.002). The ROC curve showed that the cut-off values of PLT count and the proportion of bone marrow lymphocyte at 6 months were 16.5×10⁹ /L, 68.5%, respectively. Multivariate analysis showed that the high proportion of lymphocyte in bone marrow at 6 months was an independent adverse factor for IST (<i>P</i> =0.020, <i>OR</i> =0.062), and high PLT count was a protective factor (<i>P</i> =0.044, <i>OR</i> =1.038). At 3 months of treatment, CsA response and NSAA were the risk factor for recurrence (<i>P</i> =0.001, 0.031).</p><p><strong>Conclusion: </strong>The efficacy of NSAA was higher than that of SAA and VSAA after 6 months of treatment with CsA alone. A high PLT count at the initial diagnosis was a good factor for the effectiveness of CsA, and a high proportion of bone marrow lymphocyte was an unfavorable factor. CsA response at 3 months and NSAA were risk factors for recurrence.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Prognostic Significance of Progression of Disease within 24 Months in Mantle Cell Lymphoma].","authors":"Rui-Xue Ma, Qian-Qian Zhang, Hui-Min Chen, Jin Hu, Feng-Yi Lu, Qian-Nan Han, Zhen-Yu Li, Kai-Lin Xu, Wei Chen","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.008","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.008","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the effect of progression of disease within 24 months (POD24) on overall survival (OS) in patients with mantle cell lymphoma (MCL), and compare the clinical characteristics between POD24 and non-POD24 patients.</p><p><strong>Methods: </strong>A retrospective analysis was performed on 50 MCL patients with treatment indications and regular treatment who were admitted to the Affiliated Hospital of Xuzhou Medical University from January 2010 to August 2020. According to the occurrence of POD24, the patients were grouped for prognostic evaluation and clinical characteristics comparison.</p><p><strong>Results: </strong>Univariate Cox regression analysis showed that POD24, PLT, albumin, MIPI score, ECOG PS score, LDH were the factors influencing OS in newly diagnosed MCL patients (all <i>P</i> < 0.05). The results of multivariate Cox regression analysis showed that POD24［<i>HR</i>=16.797(95%<i>CI</i> : 3.671-76.861),<i>P</i> < 0.001］, albumin<40 g/L［<i>HR</i>=3.238(95%<i>CI</i> :1.095-9.572),<i>P</i> =0.034］ and ECOG PS score≥2［<i>HR</i>=4.005(95%<i>CI</i> :1.033-15.521),<i>P</i> =0.045］ were independent risk factors influencing OS in MCL patients. The incidence of PLT<100×10⁹/L (33.3% <i>vs</i> 5.9%, <i>P</i> =0.033) and ECOG PS score ≥2 (45.5% <i>vs</i> 5.9%, <i>P</i> =0.040) were significantly higher in POD24 patients than those in non-POD24 patients.</p><p><strong>Conclusion: </strong>POD24 is an independent poor prognostic factor affecting the OS of MCL patients, and the patients with PLT<100×10⁹/L and ECOG PS score≥2 at diagnosis have a higher probability of POD24.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Analysis of Clinical Characteristics and Laboratory Indicators in Patients with Solid Malignant Tumor-Associated Venous Thromboembolism].","authors":"Yong-Mei Zhou, Hai-Ya Zhang, Qing-Qing Guo, Fang-Fang Lou, Xiang-Hong Zhou, Fei Ran","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.030","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.030","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the clinical features and laboratory indicators in patients with solid malignant tumor-associated venous thromboembolism (Ta-VTE), and to study the risk factors for Ta-VTE.</p><p><strong>Methods: </strong>The hospitalized patients with VTE in Guizhou Provincial People's Hospital from January to December 2020 were enrolled, and they were divided into Ta-VTE group and pure VTE group based on the presence or absence of solid malignant tumor. The differences in clinical data and laboratory indicators between the two groups were analyzed, and the indicators with significant differences were included in logistic regression model to analyze the risk factors of Ta-VTE.</p><p><strong>Results: </strong>A total of 288 patients with VTE were included in this study, including 64 cases in Ta-VTE group and 224 cases in pure VTE group, respectively. There were significant differences in the following indexes between the two groups, including the hospitalization time (14.20±15.29 d <i>vs</i> 10.05±6.90 d, <i>t</i>=3.112, <i>P</i> =0.002), pain (35.94% <i>vs</i> 65.18%, <i>χ</i>²=17.554, <i>P</i> =0.000), recent surgery (75.00% <i>vs</i> 37.50%, <i>χ</i>²=28.196, <i>P</i> =0.000), D-dimer [2.8 (0.92, 7.55) μg/ml <i>vs</i> 5.69 (2.25, 13.91) μg/ml, <i>Z</i>=-2.710, <i>P</i> =0.007], PLR[198.59 (139.54, 312.16) <i>vs</i> 149.76 (114.08, 233.66), <i>Z</i>=-2.924, <i>P</i> =0.003] and TBIL[10.90 (7.63, 15.68) μmol/L <i>vs</i> 12.90 (9.33, 18.28) μmol/L, <i>Z</i>=-2.066, <i>P</i> =0.039]. There was no significant difference in the other indicators (<i>P</i> >0.05). The result of multivariate logistic regression analysis showed that elevated PLR (<i>OR</i> =1.003, 95%<i>CI</i> : 1.000-1.006, <i>P</i> =0.027), recent surgery (<i>OR</i> =4.312, 95%<i>CI</i> : 2.093-8.885, <i>P</i> =0.000) and prolonged hospitalization (<i>OR</i> =1.037, 95%<i>CI</i> : 1.002-1.074, <i>P</i> =0.038）were independent risk factors for Ta-VTE. However, pain (<i>OR</i> =0.274, 95%<i>CI</i> : 0.133-0.564, <i>P</i> =0.000) was a protective factor.</p><p><strong>Conclusion: </strong>Elevated PLR level, recent surgery and prolonged hospital stay are independent risk factors for Ta-VTE patients, and rational use of these indicators is helpful for the clinical diagnosis and treatment of Ta-VTE patients.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Clinical Features and Prognosis of Patients with CD5⁺ Diffuse Large B-Cell Lymphoma].","authors":"Xiu-Juan Huang, Jian Yang, Xiao-Fang Wei, Yua Fu, Yang-Yang Zhao, Ming-Xia Cheng, Qing-Fen Li, Hai-Long Yan, You-Fan Feng","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.014","DOIUrl":"10.19746/j.cnki.issn.1009-2137.2024.03.014","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the clinical characteristics and prognosis of patients with CD5⁺ diffuse large B-cell lymphoma (DLBCL).</p><p><strong>Methods: </strong>The clinical data of 161 newly treated DLBCL patients in Gansu Provincial Hospital from January 2013 to January 2020 were retrospectively analyzed. According to CD5 expression, the patients were divided into CD5⁺ group and CD5^- group. The clinical characteristics and prognosis of the two groups were statistically analyzed.</p><p><strong>Results: </strong>The median age of patients in CD5⁺ group was 62 years, which was higher than 56 years in CD5^- group (<i>P</i> =0.048). The proportion of women in CD5⁺ group was 62.96%, which was significantly higher than 41.79% in CD5^- group (<i>P</i> =0.043). The proportion of patients with IPI score > 2 in CD5⁺ group was 62.96%, which was higher than 40.30% in CD5^- group (<i>P</i> =0.031). Survival analysis showed that the median overall survival and progression-free survival time of patients in CD5⁺ group were 27(3-77) and 31(3-76) months, respectively, which were both shorter than 30(5-84) and 32.5(4-83) months in CD5^- group (<i>P</i> =0.047, <i>P</i> =0.026). Univariate analysis showed that advanced age, positive CD5 expression, triple or double hit at initial diagnosis, high IPI score and no use of rituximab during chemotherapy were risk factors for the prognosis of DLBCL patients. Further Cox multivariate regression analysis showed that these factors were also independent risk factors except for advanced age.</p><p><strong>Conclusion: </strong>CD5⁺ DLBCL patients have a worse prognosis than CD5^- DLBCL patients. Such patients are more common in females, with advanced age and high IPI score, which is a special subtype of DLBCL.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Intervention Effect and Mechanism of Regulating MiR-155 on Young Rats with Dysfunction of Blood Coagulation].","authors":"Ya-Jing Zhang, Er-Wei Yuan, Hai-Xin Qu, Hua-Xian Guo","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.031","DOIUrl":"10.19746/j.cnki.issn.1009-2137.2024.03.031","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the intervention effect and mechanism of regulating miR-155 on young rats with dysfunction of blood coagulation.</p><p><strong>Methods: </strong>Twenty-six healthy and clean SD male rats were selected to establish the coagulopathy models. Twenty-four rats successfully established models and were randomly divided into three groups: model group, up-regulated miR-155 group and down-regulated miR-155 group, with 8 rats in each group. The expression of miR-155 was detected by real-time fluorescence quantitative polymerase chain reaction. The changes of coagulation factors and coagulation indicators were observed. Liver pathological tissues were observed by HE staining. The expressions of HMGB1-RAGE/TLRs-NF-κB signaling pathway related proteins were detected by Western blot.</p><p><strong>Results: </strong>Compared with model group, the expressions of HMGB1, RAGE, TLR2, TLR4 and NF-κB were significantly increased in up-regulated miR-155 group (all <i>P</i> < 0.05), while decreased in down-regulated miR-155 group (all <i>P</i> < 0.05). Compared with model group, the expressions of coagulation factor Ⅱ, Ⅶ, Ⅸ, and Ⅹ were significantly decreased in up-regulated miR-155 group (all <i>P</i> < 0.05), while increased in down-regulated miR-155 group (<i>P</i> < 0.05). There was no significant difference in the expression of coagulation factor Ⅺ among the three groups (<i>P</i> >0.05). Compared with model group, the levels of prothrombin time (PT) and activated partial thromboplastin time (APTT) were lower and fibrinogen (FIB) was higher in up-regulated miR-155 group (all <i>P</i> < 0.05), while in the down-regulated miR-155 group they were opposite.</p><p><strong>Conclusion: </strong>Down-regulation of miR-155 can effectively improve coagulation factors and coagulation indexes and inhibit inflammation in young rats with dysfunction of blood coagulopathy, and the mechanism may be related to HMGB1-RAGE/TLRs-NF-κB signaling pathway.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Relationship between DTA Mutations and Thromboembolism in Patients with Myeloproliferative Neoplasms].","authors":"Min Wang, Hong-Yu Zhao, Da-Qi Li, Ping Chen","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.025","DOIUrl":"10.19746/j.cnki.issn.1009-2137.2024.03.025","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the DTA (<i>DNMT3A</i>, <i>TET2</i>, <i>ASXL1</i>) mutations in patients with myeloproliferative neoplasms (MPN), and preliminarily explore their correlation with thromboembolism.</p><p><strong>Methods: </strong>Clinical characteristics of 62 patients diagnosed de novo MPN at Central Hospital Affiliated to Shandong First Medical University from September 2016 to September 2022 were retrospectively analyzed. Next-generation sequencing was used to detect 35 MPN-related genes, and the DTA mutations in MPN patients and their relationship with thromboembolic events were analyzed.</p><p><strong>Results: </strong>75.8% (47/62) of the patients presented pathogenic non-driver mutations, and the mean number of pathogenic non-driver mutations per patient was 1.08. Among them, the most frequently mutated non-driver genes were <i>TET2</i> (38.7%, 24/62), <i>DNMT3A</i> (9.7%, 6/62) and <i>ASXL1</i> (6.5%, 4/62). The presence of DTA gene mutations was 50% (31/62) in the total MPN patients, and mainly accompanied by driver mutations. The mutation rate of DTA in patients aged ≥60 years was significantly higher than that in patients <60 years old (<i>P</i> =0.039). The incidence of thromboembolism in patients with DTA mutation was 58.1% (18/31), which was significantly higher than that in patients without DTA mutation (19.4%, 6/31) (<i>P</i> =0.002). The <i>TET2</i> gene mutation rate in MPN patients with thromboembolism was 66.7% (16/24), which was significantly higher than that in patients without thromboembolism (21.1%, 8/38) (<i>P</i> =0.00).</p><p><strong>Conclusion: </strong>Patients with MPN have a higher incidence of DTA mutations, which are mainly accompanied by driver gene mutations. The incidence of thromboembolism in MPN patients with DTA mutations is higher than that in patients without DTA mutations. Especially, the elderly (≥60 years) essential thrombocythemia(ET) and polycythemia vera(PV) patients with <i>TET2</i> mutation should be vigilant for thromboembolic events.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Congenital FⅦ Deficiency Associated with a Novel Mutation in <i>F7</i> Gene].","authors":"Ying-Yu Wang, Yong-Gen Zhang, Wen-Bai Chen","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.032","DOIUrl":"10.19746/j.cnki.issn.1009-2137.2024.03.032","url":null,"abstract":"<p><strong>Objective: </strong>To identify the genetic mutation of coagulation factor Ⅶ ( <i>F7</i>) gene in a pedigree with coagulation factor Ⅶ (FⅦ) deficiency and explore the molecular pathogenesis.</p><p><strong>Methods: </strong>The prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), D-dimer (DD), fibrin degradation products (FDP) and coagulation factor Ⅶ activity (FⅦ:C) of the proband and her family members were detected by Sysmex-CS5100 analyzer. All exons and exon-intron boundaries of the <i>F7</i> gene were amplified by PCR followed by direct sequencing. The detected mutation was confirmed by reverse sequencing. The ClustalW software was used to analyze the conservatism of the mutant site. Pathogenicity of the mutation was assessed with Mutation Taster and PolyPhen-2 online bioinformatics software. Structure of the mutant protein was analyzed using Swiss-PdbViewer software.</p><p><strong>Results: </strong>The results of routine coagulation tests showed that PT of the proband was markedly extended to 42.5 s, and her FⅦ:C significantly reduced to 2%. The FⅦ:C of her grandmother, mother and sister had slightly reduced to 49%, 51%, and 42%, respectively. These coagulant parameters of her father were within the normal range. Genetic analysis reveled a heterozygous G>A change at cDNA 646 in exon 6 of <i>F7</i> gene in the proband, resulting in a replacement of glycine at 156 of FⅦ catalytic region with serine (p.Gly156Ser). The sequencing results of other exons and exon-intron boundaries of her <i>F7</i> gene were normal. The proband's grandmother, mother and sister were all the carriers of this missense mutation except her father. Bioinformatics analysis showed that the p.Gly156Ser mutation caused polarity change of the amino acid at this site and formation of side chains, leading to increase of protein instability, which may affect catalytic activity of structural domain. Meanwhile, both Mutation Taster and PolyPhen-2 online bioinformatics software also predicted the pathogenicity of this missense mutation with high scores.</p><p><strong>Conclusion: </strong>The heterozygous p.Gly156Ser mutation is the direct cause of the reduced FⅦ in this proband.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Whole Exome Sequencing Reveals Gene Mutation Characteristics of Primary Central Nervous System Lymphoma].","authors":"Qi-Qi Jin, Hao-Yun Jiang, Ye Han, Cui-Cui Li, Li-Tian Zhang, Chong-Yang Wu","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.015","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.015","url":null,"abstract":"<p><strong>Objective: </strong>To investigate gene mutation characteristics of primary central nervous system lymphoma (PCNSL) through whole exome sequencing (WES) to 18 patients with PCNSL.</p><p><strong>Methods: </strong>Tumor tissues from 18 patients with diffuse large B-cell lymphoma who were diagnosed with PCNSL in Department of Hematology, Lanzhou University Second Hospital from September 2018 to December 2020 and had normal immune function, no history of HIV or immunosuppressant therapy were collected. High-throughput-based WES was performed on the tumor tissues, with an average sequencing depth of >100×. After data processing and bioinformatics analysis of sequencing results, the mutation maps and mutation characteristics of 18 PCNSL patients were obtained.</p><p><strong>Results: </strong>Obvious somatic mutations were detected in all 18 patients. The median number of somatic mutations was 321. Missense mutations were most prominent (accounting for about 90%), and the mutation type was dominated by C>T (50.2%), reflecting the age-related mutation pattern. Among the top 15 frequently mutated genes, <i>PSD3, DUSP5, MAGEB16, TELO2, FMO2, TRMT13, AOC1, PIGZ, SVEP1, IP6K3</i>, and <i>TIAM1</i> were the driver genes. The enrichment results of driver gene pathways showed that RTK-RAS, Wnt, NOTCH, Hippo and Cell-Cycle pathways were significantly enriched. The tumor mutation burden was between 3.558 48/Mb and 8.780 89/Mb, and the average was 4.953 32/Mb, which was significantly higher than other cancer research cohorts in the TCGA database.</p><p><strong>Conclusions: </strong>PCNSL occurs somatic missense mutations frequently, mainly point mutations, and the mutation type is mainly C>T. The driver genes are mainly involved in RTK-RAS, Wnt, NOTCH and Hippo pathways, indicating that the above pathways may be related to the pathogenesis of PCNSL. PCNSL has a significantly high tumor mutation burden, which may explain the efficacy of PD-1 inhibitors in PCNSL.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Clinical Characteristics and Prognosis of Patients with Acute Leukemia Complicated with Mucormycosis after Chemotherapy].","authors":"Ping-Ping Zhang, Meng Wang, Yan Jin, Jun-Feng Zhu, Fang-Bing Zhu, Li-Li Han, Yan-Li Yang, Feng Zhang, Jia-Jia Li","doi":"10.19746/j.cnki.issn.1009-2137.2024.03.006","DOIUrl":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.03.006","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the characteristics and prognosis of patients with mucormycosis after chemotherapy for acute leukemia, and to strengthen understanding of the disease.</p><p><strong>Methods: </strong>7 cases of acute leukemia (AL) patients diagnosed with mucormycosis by metagenomic next generation sequencing (mNGS) after chemotherapy at the First Affiliated Hospital of Bengbu Medical College from October 2021 to June 2022 were collected, and their clinical data, including clinical characteristics, diagnosis, treatment, and prognosis, were retrospectively analyzed.</p><p><strong>Results: </strong>Among the 7 patients with AL complicated with mucormycosis, there were 3 males and 4 females, with a median age of 52(20-59) years. There were 6 cases of acute myeloid leukemia (AML) and 1 case of acute lymphocytic leukemia (ALL). Extrapulmonary involvement in 4 cases, including 1 case suspected of central nervous system involvement. The median time for the occurrence of mucor infection was 16(6-69) days after chemotherapy and 19(14-154) days after agranulocytosis. The main clinical manifestations of mucormycosis were fever (7/7), cough (3/7), chest pain (3/7) and dyspnea (1/7). The most common chest CT imaging findings were nodules, patchy or mass consolidation (6/7). All patients were treated with posaconazole or voriconazole prophylaxis during neutropenia phase. 5 patients died within 8 months, and the median time from diagnosis to death was 1 month.</p><p><strong>Conclusion: </strong>Although prophylactic antifungal therapy is adopted, patients with acute leukemia still have a risk of mucor infection during the neutropenia phase. Fever is the main manifestation in the early stage of mucor infection. The use of intravenous antifungal drugs alone is ineffective and there is a high mortality rate in acute leukemia patients with mucormycosis.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}