OBJECTIVE: To analyze the clinical characteristics, treatment, and prognosis of seven pediatric patients with Acute myeloid leukemia (AML) positive for the t(16;21)(p11;q22) FUS::ERG fusion gene. METHODS: A retrospective analysis was carried out on the clinical data, treatment, and prognosis of seven AML patients with t(16;21)(p11;q22) FUS::ERG fusion gene admitted to Henan Children's Hospital between June 2015 and November 2024. Relevant literature was also reviewed. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-102-001). RESULTS: Among 297 pediatric patients with AML, 7 cases (2.36%) were positive for the t(16;21)(p11;q22) FUS::ERG fusion gene, including 3 males and 4 females, with a median age of 11 years (range: 3 ~ 12 years). According to the FAB classification, these included 1 case of M2, 3 cases of M5, and 3 cases of AML-not otherwise specified (non-M3). All 7 patients were found to harbor the t(16;21)(p11;q22) translocation, with 3 cases showing additional chromosomal abnormalities. Immunophenotyping revealed universal expression of CD13, CD33, CD34, and CD117, with partial expression of CD56, CD4, CD64, CD123, CD15, CD38, CD11b, HLA-DR, cMPO, and CD16. One patient achieved complete remission (CR) after the first course of DAE (cytarabine + daunorubicin + etoposide) induction chemotherapy but relapsed and discontinued the treatment. Six patients received DAH (cytarabine + daunorubicin + homoharringtonine) induction therapy, of whom 2 achieved CR after two courses and underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), resulting in an overall CR rate of 42.86%. Five children did not receive allo-HSCT and had a median overall survival of 9 months (range: 6 ~ 18 months). Two children who underwent transplantation achieved bone marrow morphological and molecular biological relapse at 6 and 9 months post-transplantation, respectively. After receiving combined chemotherapy and donor lymphocyte infusion, one child failed to achieve remission and died at 22 months post-transplantation, while the other has been followed up to date with positive fusion gene status. Their overall survival was 25 months and 30 months, respectively. CONCLUSION The t(16;21)(p11;q22) FUS::ERG fusion gene is rare in pediatric AML and associated with poor prognosis. Allo-HSCT may mitigate the adverse prognostic impact of the FUS::ERG fusion gene and contribute to prolonged survival.
Humans ; Male ; Child ; Female ; Leukemia, Myeloid, Acute/drug therapy* ; Oncogene Proteins, Fusion/genetics* ; Translocation, Genetic ; Retrospective Studies ; RNA-Binding Protein FUS/genetics* ; Chromosomes, Human, Pair 16/genetics* ; Adolescent ; Child, Preschool ; Chromosomes, Human, Pair 21/genetics* ; Prognosis ; Treatment Outcome

Objective:To improve the understanding of pediatric acute promyelocytic leukemia with TTMV::RARA fusion gene positive caused by torque teno mini virus (TTMV).Methods:A retrospective analysis was conducted on the clinical data of a patient with relapsed TTMV::RARA fusion gene-positive acute promyelocytic leukemia who was admitted to Children's Hospital Affiliated to Zhengzhou University in July 2024, and literature review was conducted.Results:The patient was a girl with the age of 5 years and 7 months. She presented with joint pain and fever. Combined with bone marrow cell morphology and whole transcriptome sequencing, she was diagnosed with TTMV::RARA fusion gene-positive acute promyelocytic leukemia. After induction therapy with regimens such as retinoic acid +daunorubicin+cytarabine and retinoic acid+venetoclax+homoharringtonine, the joint pain was relieved, but the primary disease did not improve. Subsequently, there was no regular treatment. One year later, the disease recurred and was complicated with severe infection. Her condition improved following anti-infection and induction therapy.Conclusions:TTMV::RARA fusion gene-positive pediatric acute promyelocytic leukemia is a special type of acute promyelocytic leukemia caused by the insertion of viral sequences from TTMV infection. It is rare in clinical practice and difficult to treat, and the overall prognosis may be poor.

Objective To analyze the value of Wilms tumor 1(WT1)gene combined with mul-tiparameter flow cytometry for minimal residual disease(FCM-MRD)in evaluating prognosis of chil-dren with acute myeloid leukemia(AML).Methods The clinical data and general information of 76 children with AML were retrospectively analyzed.Before treatment,WT1 gene expression was detec-ted by real-time fluorescence quantitative polymerase chain reaction(qRT-PCR)in all the children,and MRD was detected by FCM.All the children were followed up for a year,and they were divided into good prognosis group(n=40)and poor prognosis group(n=36)according to prognosis condition.The changes of WT1 gene and MRD before treatment and 3,9 and 12 months after treatment were observed in both groups;the changes of WT1 gene and MRD before and after treatment were com-pared in the children with different therapeutic plans;the relationships of clinicopathological features with WT1 gene expression and positive rate of FMM-MRD were analyzed in AML children.Spearman correlation coefficient was used to analyze the relationships of WT1 gene expression and positive rate of FCM-MRD with the prognosis of AML children;the Kaplan-Meier survival curve was drawn to an-alyze the effects of WT1 gene expression and positive rate of FMM-MRD on the recurrence of AML-children and their correlations;the receiver operating characteristic(ROC)curve was drawn to ana-lyze the efficiencies of single detection with WT1 gene and FMM-MRD and combined detection in predicting prognosis of AML children;the relationships of WT1 gen and MRD with FLT3 ITD/TKD mutation were analyzed in AML children.Results The WT1 expression levels and positive rates of FCM-MRD at 9 and 12 months after treatment in the good prognosis group were significantly lower than those in the poor prognosis group(P＜0.05);the WT1 gene expression level and positive rate of FCM-MRD in children with DAH chemotherapy regimen were lower than those in children with DAE chemotherapy regimen,while the rate of good prognosis was higher than thatin children with DAE chemotherapy regimen,but there were no significant differences between children with different chemotherapy regimens(P＞0.05);the WT1 gene expression and the positive rate of FCM-MRD were significantly correlated with white blood cell count,FAB typing,bone marrow primitive cells,and cytogenetic grouping in AML children(P＜0.05).Spearman correlation coefficient analysis showed the WT1 gene expression and positive rate of FCM-MRD were significantly negatively correla-ted with prognosis of AML children(P＜0.05);the Kaplan-Meier survival curve validation showed that overall survival(OS)and progression free survival(PFS)in children with high expression of WT1 were significantly lower than those in children with low expression of WT1(x2=4.215,9.530;P=0.040,0.002),and OS and PFS in children with positive FCM-MRD were also signifi-cantly lower than those in children with negative FCM-MRD(x2=5.144,6.381;P=0.023,0.012);the Spearman correlation coefficient analysis showed that the WT1 gene expression was sig-nificantly negatively correlated with OS and PFS in AML children(P＜0.05);the ROC curve showed that the area under the curve of WT1 combined with FCM-MRD was significantly higher than that of single indicator detection,with a sensitivity of 88.89％and a specificity of 87.50％;the Spearman correlation analysis showed that there were no significant correlations of WT1 gene expres-sion and positive rate of FCM-MRD with FLT3 ITD/TKD mutation(P＞0.05).Conclusion The expression level of WT1 and the positive rate of FCM-MRD show specific changes in AML children with different prognosis,and are strongly correlated with the prognosis of AML children.Combined detection of the two indicators can effectively predict the prognosis of AML children.

Objective To analyze the value of Wilms tumor 1(WT1)gene combined with mul-tiparameter flow cytometry for minimal residual disease(FCM-MRD)in evaluating prognosis of chil-dren with acute myeloid leukemia(AML).Methods The clinical data and general information of 76 children with AML were retrospectively analyzed.Before treatment,WT1 gene expression was detec-ted by real-time fluorescence quantitative polymerase chain reaction(qRT-PCR)in all the children,and MRD was detected by FCM.All the children were followed up for a year,and they were divided into good prognosis group(n=40)and poor prognosis group(n=36)according to prognosis condition.The changes of WT1 gene and MRD before treatment and 3,9 and 12 months after treatment were observed in both groups;the changes of WT1 gene and MRD before and after treatment were com-pared in the children with different therapeutic plans;the relationships of clinicopathological features with WT1 gene expression and positive rate of FMM-MRD were analyzed in AML children.Spearman correlation coefficient was used to analyze the relationships of WT1 gene expression and positive rate of FCM-MRD with the prognosis of AML children;the Kaplan-Meier survival curve was drawn to an-alyze the effects of WT1 gene expression and positive rate of FMM-MRD on the recurrence of AML-children and their correlations;the receiver operating characteristic(ROC)curve was drawn to ana-lyze the efficiencies of single detection with WT1 gene and FMM-MRD and combined detection in predicting prognosis of AML children;the relationships of WT1 gen and MRD with FLT3 ITD/TKD mutation were analyzed in AML children.Results The WT1 expression levels and positive rates of FCM-MRD at 9 and 12 months after treatment in the good prognosis group were significantly lower than those in the poor prognosis group(P＜0.05);the WT1 gene expression level and positive rate of FCM-MRD in children with DAH chemotherapy regimen were lower than those in children with DAE chemotherapy regimen,while the rate of good prognosis was higher than thatin children with DAE chemotherapy regimen,but there were no significant differences between children with different chemotherapy regimens(P＞0.05);the WT1 gene expression and the positive rate of FCM-MRD were significantly correlated with white blood cell count,FAB typing,bone marrow primitive cells,and cytogenetic grouping in AML children(P＜0.05).Spearman correlation coefficient analysis showed the WT1 gene expression and positive rate of FCM-MRD were significantly negatively correla-ted with prognosis of AML children(P＜0.05);the Kaplan-Meier survival curve validation showed that overall survival(OS)and progression free survival(PFS)in children with high expression of WT1 were significantly lower than those in children with low expression of WT1(x2=4.215,9.530;P=0.040,0.002),and OS and PFS in children with positive FCM-MRD were also signifi-cantly lower than those in children with negative FCM-MRD(x2=5.144,6.381;P=0.023,0.012);the Spearman correlation coefficient analysis showed that the WT1 gene expression was sig-nificantly negatively correlated with OS and PFS in AML children(P＜0.05);the ROC curve showed that the area under the curve of WT1 combined with FCM-MRD was significantly higher than that of single indicator detection,with a sensitivity of 88.89％and a specificity of 87.50％;the Spearman correlation analysis showed that there were no significant correlations of WT1 gene expres-sion and positive rate of FCM-MRD with FLT3 ITD/TKD mutation(P＞0.05).Conclusion The expression level of WT1 and the positive rate of FCM-MRD show specific changes in AML children with different prognosis,and are strongly correlated with the prognosis of AML children.Combined detection of the two indicators can effectively predict the prognosis of AML children.

Objective To explore the clinical features and risk factors of primary gout in Xinjiang area.Methods A total of 364 patients with gout and 546 healthy crowd were divided into two groups.A unified questionnaire was used to investigate and detect relevant biochemical indicators.Related biochemical indexes were examined and analyzed.Logistic regression model was established to analyze the risk factors related to gout.Results The mean age of onset of gout was 42.95±11.93.More than two joints were involved in56.32％ of patients with gout.BMI, SUA, GLU, BUN, CREA, TG, TC, LDL-C of gout group were significantly higher than those of control group (P＜0.01), while HDL-C was significantly lower than that of control group (P＜0.01).The advanced age, high uric acid hematic disease, high blood pressure, high blood sugar, smoking, drinking, family history of gout, BMI, high TG levels, and high creatinine hematic disease, high blood LDL-C may be risk factors for gout occurence (OR=3.767, 103.482, 3.621, 2.934, 3.140, 3.482, 4.198, 1.102, 1.498, 1.102, 1.498), while aerobic exercise regularly (three times or more a week) is the protection factor gout occurs.Conclusion The average age of patients with gout in Xinjiang is lower than the national level.The distribution of the degree of culture of patients with gout in Xinjiang may have no obvious rule, and the population with medium and low degree of culture is the main affected population.More than half of patients with gout are now involved in more than two joints.The most common associated with gout is hypertension.Beer/liquor and high-fat diet are the most common dietary factors for patients with gout in Xinjiang.The advanced age, hyperuricemia, hypertension, hyperglycemia, smoking, drinking, hypercreatinine, BMI, high-TG, high LDL-C and family history of gout may all increase the risk of gout, while aerobic regular exercise (more than 3 times per week) may reduce the risk of gout.