1.Application of next generation sequencing technology to the analysis of gene mutations in children with T-acute lymphoblastic leukemia and their impact on prognosis
Shuting MAO ; Bai LI ; Dao WANG ; Xinrui WU ; Shufang SU ; Linlin WEI ; Ying LIU ; Fangyuan CHAI ; Yufeng LIU
Chinese Journal of Applied Clinical Pediatrics 2025;40(2):114-119
Objective:To analyze the gene mutation spectrum of children with T-acute lymphoblastic leukemia (T-ALL) using next generation sequencing technology and to evaluate the value of gene mutations in prognosis stratification.Methods:A case series analysis was made.The clinical data of newly diagnosed pediatric T-ALL patients in the First Affiliated Hospital of Zhengzhou University from January 1, 2019 to February 29, 2024 were analyzed retrospectively.T-ALL gene mutations were analyzed.The relationships of gene mutations with clinical features and induction of responses to therapy were studied.The effects of gene mutations on overall survival (OS) and event-free survival (EFS) were examined by the Kaplan-Meier method and COX regression model.Results:A total of 80 newly diagnosed pediatric T-ALL patients were enrolled in the study, with a male-to-female ratio of 3.4∶1.0 and a median age of 8 (range, 2-17) years.A total of 57 mutations were detected in 74 patients, 46.2% (37/74) of whom showed 3 or more gene mutations.The coexistence of mutated genes was obvious. PTEN mutations were more prevalent in male patients ( P=0.018).Initial leukocyte counts were higher in patients with PTEN mutations ( P=0.038) and lower in patients with JAK3 mutations ( P=0.002).Patients with NOTCH1 mutations had a higher positive rate of fusion genes ( P=0.043).Patients with PTEN mutations had a higher rate of minimal residual disease(MRD) remission after 15/19 d of treatment with induction therapy, respectively ( P=0.013).The rate of MRD remission after 33/46 d of treatment with induction therapy was higher in patients with the FBXW7 mutation ( P=0.004) and lower in patients with JAK3 mutations ( P=0.003).Multifactorial COX regression analysis showed that IL7R mutation and three or more gene mutations were independent risk factors for OS and EFS in T-ALL patients(OS: HR=3.252, 7.357, 95% CI: 1.020-10.372, 1.646-32.882; EFS: HR=3.372, 3.009, 95% CI: 1.234-9.214, 1.174-7.708; all P<0.05). Conclusions:Gene mutations are prevalent in T-ALL children and correlate with clinical manifestations and prognosis.The coexistence of mutated genes is obvious.Pediatric T-ALL patients with IL7R mutations and three or more gene mutations have a poorer prognosis.
2.Application of next generation sequencing technology to the analysis of gene mutations in children with T-acute lymphoblastic leukemia and their impact on prognosis
Shuting MAO ; Bai LI ; Dao WANG ; Xinrui WU ; Shufang SU ; Linlin WEI ; Ying LIU ; Fangyuan CHAI ; Yufeng LIU
Chinese Journal of Applied Clinical Pediatrics 2025;40(2):114-119
Objective:To analyze the gene mutation spectrum of children with T-acute lymphoblastic leukemia (T-ALL) using next generation sequencing technology and to evaluate the value of gene mutations in prognosis stratification.Methods:A case series analysis was made.The clinical data of newly diagnosed pediatric T-ALL patients in the First Affiliated Hospital of Zhengzhou University from January 1, 2019 to February 29, 2024 were analyzed retrospectively.T-ALL gene mutations were analyzed.The relationships of gene mutations with clinical features and induction of responses to therapy were studied.The effects of gene mutations on overall survival (OS) and event-free survival (EFS) were examined by the Kaplan-Meier method and COX regression model.Results:A total of 80 newly diagnosed pediatric T-ALL patients were enrolled in the study, with a male-to-female ratio of 3.4∶1.0 and a median age of 8 (range, 2-17) years.A total of 57 mutations were detected in 74 patients, 46.2% (37/74) of whom showed 3 or more gene mutations.The coexistence of mutated genes was obvious. PTEN mutations were more prevalent in male patients ( P=0.018).Initial leukocyte counts were higher in patients with PTEN mutations ( P=0.038) and lower in patients with JAK3 mutations ( P=0.002).Patients with NOTCH1 mutations had a higher positive rate of fusion genes ( P=0.043).Patients with PTEN mutations had a higher rate of minimal residual disease(MRD) remission after 15/19 d of treatment with induction therapy, respectively ( P=0.013).The rate of MRD remission after 33/46 d of treatment with induction therapy was higher in patients with the FBXW7 mutation ( P=0.004) and lower in patients with JAK3 mutations ( P=0.003).Multifactorial COX regression analysis showed that IL7R mutation and three or more gene mutations were independent risk factors for OS and EFS in T-ALL patients(OS: HR=3.252, 7.357, 95% CI: 1.020-10.372, 1.646-32.882; EFS: HR=3.372, 3.009, 95% CI: 1.234-9.214, 1.174-7.708; all P<0.05). Conclusions:Gene mutations are prevalent in T-ALL children and correlate with clinical manifestations and prognosis.The coexistence of mutated genes is obvious.Pediatric T-ALL patients with IL7R mutations and three or more gene mutations have a poorer prognosis.
3. A multicenter, retrospective study of pathogenic bacteria distribution and drug resistance in febrile neutropenic patients with hematological diseases in Shanghai
Jun ZHU ; Jiong HU ; Yuanfei MAO ; Fangyuan CHEN ; Jianyi ZHU ; Jumei SHI ; Dandan YU ; Siguo HAO ; Rong TAO ; Peng LIU ; Shiyang GU ; Jian HOU ; Haiyan HE ; Aibin LIANG ; Yi DING ; Ligen LIU ; Yinghua XIE ; Qi ZHU ; Yehua YU ; Yonghua YAO ; Wei CHEN ; Huili XU ; Xiuhua HAN ; Chun WANG
Chinese Journal of Hematology 2017;38(11):945-950
Objective:
To investigate the pathogen spectrum distribution and drug resistance of febrile neutropenic patients with hematological diseases in Shanghai.
Methods:
A retrospective study was conducted on the clinical isolates from the febrile neutropenic patients hospitalized in the departments of hematology in 12 general hospitals in Shanghai from January 2012 to December 2014. The drug susceptibility test was carried out by Kirby-Bauer method. WHONET 5.6 software was used to analyze pathogenic bacteria and drug susceptibility data.
Results:
A total of 1 260 clinical isolates were collected from the febrile neutropenic patients. Gram-positive bacteria accounted for 33.3% and Gram-negative bacteria accounted for 66.7%.
4.Regulation of N-Acetyl-D-glucosamine on macrophages function of stressed mice
Yijin PEI ; Xiaolan WU ; Fangyuan MAO ; Wanyan CHEN ; Junkang LIU
Journal of Third Military Medical University 2003;0(19):-
Objective To investigate the regulative role of N-Acetyl-D-glucosamine(GlcNAc) on the stressed mice macrophages function.Methods The stressed mice model was established by electric footshock method.The mice were divided into 5 groups:normal control group,stressed mice model group,low dose Glc-NAc treatment group(0.25 ml 15% GlcNAc),medium-dose GlcNAc treatment group(0.5 ml 15% GlcNAc) and high-dose GlcNAc treatment group(1 ml 15% GlcNAc).GlcNAc was intragastrically injected to corresponding mice 2 h before the electrical stimulation.Peritoneal macrophage(PM?) phagocytosis capability was detected by phagocytosis saccharomycete assay,and PM? energy metabolism was detected by MTT assay.Results Compared with normal control group,stressed mice PM? phagocytosis capability was significantly lower(P

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