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1.
Article in Chinese | WPRIM | ID: wpr-879845

ABSTRACT

OBJECTIVE@#To study the clinical features and prognosis of childhood acute myeloid leukemia with myelodysplasia-related changes (AML-MRC).@*METHODS@#A retrospective analysis was performed on the medical data of 14 children who were diagnosed with AML-MRC from June 2014 to March 2020, including clinical features, laboratory examination results, and prognosis.@*RESULTS@#Among the 14 children with AML-MRC, there were 9 boys and 5 girls, with a median age of 11 years (range: 1-17 years), a median leukocyte count of 8.3×10@*CONCLUSIONS@#Childhood AML-MRC is often observed in boys, and AML-M5 is the most common type based on FAB classification. Such children tend to have a poor prognosis. HSCT is expected to improve the poor prognosis of children with AML-MRC. However due to the small number of cases, it is necessary to increase the number of cases for further observation.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Hematopoietic Stem Cell Transplantation , Humans , Infant , Leukemia, Myeloid, Acute/therapy , Male , Myelodysplastic Syndromes/therapy , Prognosis , Retrospective Studies
2.
Article in Chinese | WPRIM | ID: wpr-880028

ABSTRACT

OBJECTIVE@#To analyze the outcomes of the children suffered from philadelphia chromosome positive acute lymphoblastic leukemia (Ph@*METHODS@#21 cases of firstly diagnosed Ph@*RESULTS@#Among 21 patients, 17 were male and 4 were female with a median age of 8 years old (range, 4-12 years), the median follow-up time was 30 moths (range, 10-133 months). All the patients were treated with chemotherapy induced by the high-risk project of CCLG-ALL 2008. Among 14 patients treated with TKI plus chemotherapy, nine patients achieved complete remission. During 3 months after treatment, patients without complete molecular response or with the second complete remission and intensity desire of transplantation were treated with allo-HSCT, among 9 patients with allo-HSCT, six patients achieved long term survival.@*CONCLUSION@#At TKI era, TKI combined with strong chemotherapy can make Ph


Subject(s)
Aged , Child , Female , Hematopoietic Stem Cell Transplantation , Humans , Infant , Male , Philadelphia Chromosome , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Protein Kinase Inhibitors , Retrospective Studies
3.
Journal of Experimental Hematology ; (6): 1831-1836, 2020.
Article in Chinese | WPRIM | ID: wpr-879979

ABSTRACT

OBJECTIVE@#To investigate the consistency between FCM and PCR on the detecting of MRD in TCF3-PBX1@*METHODS@#55 cases of paediatric TCF3-PBX1@*RESULTS@#Among the 55 children with TCF3-PBX1@*CONCLUSION@#The detection result of MRD in TCF3-PBX1 detect by FCM and PCR shows better consistency. MRD positivity detected by FCM at the end of induction therapy (day 33) predicts a high risk of relapse in TCF3-PBX1 ALL patients.


Subject(s)
Adolescent , Bone Marrow , Child , Child, Preschool , Female , Humans , Male , Neoplasm, Residual , Oncogene Proteins, Fusion/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Prognosis , Recurrence
4.
Article in Chinese | WPRIM | ID: wpr-879771

ABSTRACT

OBJECTIVE@#To study the pharmacokinetic characteristics, clinical effect, and safety of pegylated recombinant human granulocyte colony-stimulating factor (PEG-rhG-CSF) in children with acute lymphoblastic leukemia (ALL).@*METHODS@#A prospective study was performed on children with ALL who cyclophosphamide, cytarabine, and 6-mercaptopurine were used for consolidation therapy. PEG-rhG-CSF (PEG-rhG-CSF group) or rhG-CSF (rhG-CSF group) was injected after chemotherapy. The plasma concentration of PEG-rhG-CSF was measured, and clinical outcome and safety were observed for both groups.@*RESULTS@#A total of 17 children with ALL were enrolled, with 9 children in the PEG-rhG-CSF group and 8 children in the rhG-CSF group. In the PEG-rhG-CSF group, the peak concentration of PEG-rhG-CSF was 348.2 ng/mL (range 114.7-552.0 ng/mL), the time to peak was 48 hours (range 12-72 hours), and the half life was 14.1 hours (range 11.1-18.1 hours). The plasma concentration curve of PEG-rhG-CSF was consistent with the mechanism of neutrophil-mediated clearance. Compared with the rhG-CSF group, the PEG-rhG-CSF group had a significantly shorter median time to absolute neutrophil count (ANC) recovery (P0.05).@*CONCLUSIONS@#The pharmacokinetic characteristics of PEG-rhG-CSF in children with ALL receiving consolidation chemotherapy are consistent with the mechanism of neutrophil-mediated clearance, with a short half life and fast recovery of ANC, and there are no significant differences in safety between PEG-rhG-CSF and rhG-CSF.


Subject(s)
Child , Granulocyte Colony-Stimulating Factor/therapeutic use , Humans , Neutropenia , Polyethylene Glycols , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Prospective Studies , Recombinant Proteins
5.
Article in Chinese | WPRIM | ID: wpr-828721

ABSTRACT

OBJECTIVE@#To compare the efficacy of the CAMS-2005 and CAMS-2009 regimens in treating children with non-core binding factor acute myeloid leukemia (non-CBF AML) and to study the prognosis factors.@*METHODS@#A total of 161 children who were initially diagnosed with non-CBF AML from April 2005 to December 2015 were enrolled as study subjects, and were divided into a CAMS-2005 regimen group (n=52) and a CAMS-2009 regimen group (n=109) according to the chemotherapy regimen provided. The efficacy was retrospectively compared between the two groups.@*RESULTS@#The complete remission (CR) rate at the first course of treatment was higher in the CAMS-2009 regimen group than that in the CMAS-2005 regimen group (63.3% vs 46.2%; P0.05). Children who achieved CR at the first course of treatment had significantly higher OS and event-free survival rates than those who did not achieved CR (P<0.01).@*CONCLUSIONS@#The CAMS-2009 regimen is superior to the CAMS-2005 regimen in improving the CR rate in children with non-CBF AML after induction treatment. Whether CR is achieved at the first course of treatment can affect the OS rate of children with non-CBF AML.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols , Child , Humans , Leukemia, Myeloid, Acute , Prognosis , Remission Induction , Retrospective Studies
6.
Article in Chinese | WPRIM | ID: wpr-828674

ABSTRACT

OBJECTIVE@#To study the clinical features and prognosis of core binding factor acute myeloid leukemia (CBF-AML) in children.@*METHODS@#A retrospective analysis was performed from the chart review data of children who were newly diagnosed with CBF-AML in the Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences, from August 2009 to November 2015. According to the type of fusion gene, the children were divided into CBFB-MYH11 and AML1-ETO groups. Clinical features and prognosis were analyzed and compared between the two groups.@*RESULTS@#A total of 91 children with CBF-AML were enrolled in this study, among whom there were 74 (81%) in the AML1-ETO group and 17 (19%) in the CBFB-MYH11 group. Additional chromosomal abnormalities were observed in 38 children (42%), and deletion of sex chromosome was the most common abnormality and was observed in 28 children (31%). After the first course of induction treatment, the complete remission rate was 97% (88/91), the recurrence rate was 29% (26/91), the 5-year event-free survival (EFS) rate was 65%±6%, and the 5-year overall survival (OS) rate was 75%±5%. There were no significant differences between the AML1-ETO and CBFB-MYH11 groups in 5-year EFS rate (62%±7% vs 77%±11%, P>0.05) or 5-year OS rate (72%±6% vs 88%±9%, P>0.05).@*CONCLUSIONS@#AML1-ETO is the main type of fusion gene in children with CBF-AML, and deletion of sex chromosome is the most common type of additional chromosomal abnormalities. Children with CBF-AML often have a good prognosis, and the children with AML1-ETO have a similar prognosis to those with CBFB-MYH11.


Subject(s)
Child , Core Binding Factor Alpha 2 Subunit , Core Binding Factors , Humans , Leukemia, Myeloid, Acute , Oncogene Proteins, Fusion , Prognosis , RUNX1 Translocation Partner 1 Protein , Retrospective Studies
7.
Article in Chinese | WPRIM | ID: wpr-828235

ABSTRACT

OBJECTIVE@#To observe effects of (, TLZT) gel preparation on p53, miR-502-5p, NF-κBp65 in synovial tissue of knee osteoarthritis (KOA), and to explore mechanism of TLZT gel preparation in treating KOA.@*METHODS@#Thirthy-six Wistar rats aged 8 weeks and weighed 200 to 220 g (meaned 208 g) were randomly divided into normal group, model group and traditional Chinese medicine (TCM) group, 12 rats in each group. KOA model was established by modified Hulth method. After 4 weeks of modeling, TCM group treated with TLZT gel preparation for external use, 3 times daily for 2 weeks;normal group and model group were fed normally without intervention. After treatment, morphological changes of specimens in each group were observed, changes of miR-502-5p in synovial tissue were detected by qPCR, and contents of p53, NF-κBp65, IL-1β, TNF-α, MMP-13 in synovial tissue were detected by qPCR and Western Blot respectively.@*RESULTS@#(1)Morphological observation of specimens showed that the articular cartilage in model group was hyaline and uneven, the synovial membranes were hypertrophic and proliferative with a large number of inflammatory cells infiltrating, the joint fluid was thicker in texture;the articular cartilage in TCM group was more transparent and smooth, synovial hyperplasia was mild with a small amount of inflammatory cell infiltration, the texture of articular fluid was clear and sparse. (2) Compared with normal group, content of miR-502-5p of synovial tissue in model and TCM group were increased, mRNA and expression of p53 decreased, expression of NF-κBp65, IL-1β, TNF-α, MMP-13 increased. (3)Compared with model group, content of miR-502-5p in synovial tissue of TCM group decreased (<0.05), mRNA and protein expression of p53 increased (<0.05), mRNA and protein expression of NF-κBp65, IL-1β, TNF-α, MMP-13 decreased (<0.05).@*CONCLUSION@#Expression of p53, miR-502 -5p, NF -κBp65 in synovial tissue is closely related to synovial hyperplasia and inflammatory reaction, TLZT gel preparation may reduce proliferation and inflammatory reaction of KOA synovium by regulating the expression of p53, miR- 502-5p, NF-κBp65 in synovial tissues.


Subject(s)
Animals , Drugs, Chinese Herbal , MicroRNAs , Osteoarthritis, Knee , Rats , Rats, Wistar , Synovial Membrane , Tumor Suppressor Protein p53
8.
Article in Chinese | WPRIM | ID: wpr-775109

ABSTRACT

OBJECTIVE@#To study the association of platelet level at diagnosis with prognosis in children with acute lymphoblastic leukemia (ALL).@*METHODS@#A total of 892 children with ALL who underwent chemotherapy with the CCLG-ALL 2008 regimen were enrolled. According to the platelet count at diagnosis, these children were divided into normal platelet count group (platelet count ≥100×109/L; n=263) and thrombocytopenia group (platelet count 0.05). The normal platelet count group still had a significantly higher 10-year EFS rate than the thrombocytopenia group after the children with MLL gene rearrangement were excluded (P0.05). The <20×10/L subgroup had significantly lower 10-year EFS and OS rates than the normal platelet count group, the (50- <100)×10/L subgroup, and the (20- <50)×10/L subgroup (P<0.05). After the children with MLL gene rearrangement were excluded, the <20×10/L subgroup still had significantly lower 10-year EFS and OS rates than the normal platelet count group, the (50-<100)×10/L subgroup, and the (20- <50)×10/L subgroup (P<0.05).@*CONCLUSIONS@#ALL children with MLL gene rearrangement often have the clinical manifestation of thrombocytopenia. Platelet level at diagnosis is associated with the prognosis of ALL children. The children with normal platelet count have a low recurrence rate and good prognosis, and those with a platelet count of <20×10/L have the worst prognosis.


Subject(s)
Child , Disease-Free Survival , Humans , Immunophenotyping , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Prognosis , Recurrence
9.
Article in Chinese | WPRIM | ID: wpr-775087

ABSTRACT

OBJECTIVE@#To study the long-term clinical effect of the CCLG-ALL2008 regimen in the treatment of children newly diagnosed with acute lymphoblastic leukemia (ALL) with different molecular biological features.@*METHODS@#A total of 940 children who were newly diagnosed with ALL were enrolled in this study. The children were treated with the CCLG-ALL2008 regimen. A retrospective analysis was performed for the long-term outcome of ALL children with different molecular biological features.@*RESULTS@#Among the 940 children with ALL, there were 570 boys and 370 girls, with a median age of onset of 5 years (range 1-15 years) and a median follow-up time of 65 months (range 3-123 months). The complete response (CR) rate was 96.7%, the predicted 10-year overall survival (OS) rate was 76.5%±1.5%, and the event-free survival (EFS) rate was 62.6%±3.0%. After CR was achieved after treatment, the overall recurrence rate was 21.9%. The children with positive ETV6-RUNX1 had the lowest recurrence rate and were prone to late recurrence, and those with positive MLL rearrangement had the highest recurrence rate and were prone to early recurrence. The children with positive ETV6-RUNX1 had a significantly higher predicted 10-year OS rate than those with positive TCF3-PBX1, BCR-ABL, or MLL rearrangement and those without molecular biological features (P<0.05). The children with positive ETV6-RUNX1 had a significantly higher predicted 10-year EFS rate than those with positive BCR-ABL or MLL rearrangement (P<0.05).@*CONCLUSIONS@#Molecular biological features may affect the long-term prognosis of children with ALL, and positive MLL rearrangement and BCR-ABL fusion gene are indicators of poor prognosis. Children with positive ETV6-RUNX1 fusion gene have the highest long-term survival rate.


Subject(s)
Adolescent , Antineoplastic Combined Chemotherapy Protocols , Therapeutic Uses , Child , Child, Preschool , Disease-Free Survival , Female , Fusion Proteins, bcr-abl , Humans , Infant , Male , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Drug Therapy , Prognosis , Retrospective Studies
10.
Article in Chinese | WPRIM | ID: wpr-773847

ABSTRACT

OBJECTIVE@#To explore expression of β-catenin and NF-κB signaling pathway in synovial tissue of rats with different degrees of knee osteoarthritis (KOA).@*METHODS@#Forty-eight SPF male rats weighed (200±20) g were randomly divided into three groups, namely model group (32 rats), sham operation group (8 rats) and control group (8 rats). KOA model rats were established by Hulth method, and 8 rats were killed at 2, 4, 8, 12 weeks respectively after modeling, in order to establish KOA model rats with moderate, early, mild and severe degree. Sham operation group was only cut off capsule of knee joint and suture to exclude interference factor, control group was untreated. Behavior, synovial hyperplasia and cartilage degeneration of rats among each group were observed. Expression of NF-κB and signaling pathway and β-catenin in synovial tissue of rats were detected by real-time PCR.@*RESULTS@#KOA rat model was successfully established, and synovial hyperplasia was observed in KOA model at mild and early degree, and then gradually decreased; while cartilage degeneration in the early moderate and severe KOA model was significantly expressed, and gradually aggravated with time. The results of PCR showed that expression of β-catenin in 4-week group (8.57±0.46) and 8-week group (4.23±0.09) were higher than those in control group (<0.05); expression of TLR-2 in 2-week group (12.04±4.02) and 4-week group (8.54±2.13) were higher than those in control group(<0.05), and TLR-4 in 2-week group(5.04±0.93), 4-week group (3.29±0.58) and 8-week group (1.63±0.12) were higher than those in control group; expression of NF-κB was significantly higher in 2-week group (10.15±2.04), 4-week group (15.97±4.17), 8-week group (7.69±1.48) and 12-week group (6.70±1.58) than that in control group (<0.05), and expression of IL-1β was significantly higher in 4-week group (2.79±0.25) and 8-week group (2.46±0.32) than that of control group (<0.05).@*CONCLUSIONS@#On the RNA expression level, both of β-catenin and NF-κB signaling pathways are involved in synovial inflammation in KOA model rats, and they play a regulatory role in expression of IL-1β, degeneration of KOA.


Subject(s)
Animals , Inflammation , Male , NF-kappa B , Osteoarthritis, Knee , Rats , Signal Transduction , beta Catenin
11.
Article in Chinese | WPRIM | ID: wpr-776659

ABSTRACT

OBJECTIVE@#To investigate the complications and clinical outcome of children with acute myeloid leukemia (AML) undergoing mitoxantrone-cytarabine-etoposide (MAE) induction therapy.@*METHODS@#A total of 170 children with AML were given MAE induction therapy, and the complications and remission rate were analyzed after treatment.@*RESULTS@#The male/female ratio was 1.33:1 and the mean age was 7.4 years (range 1-15 years). Leukocyte count at diagnosis was 29.52×10/L [range (0.77-351)×10/L]. Of all children, 2 had M0-AML, 24 had M2-AML, 2 had M4-AML, 48 had M5-AML, 3 had M6-AML, 7 had M7-AML, 69 had AML with t(8;21)(q22;q22), and 15 had AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22). The most common complication was infection (158/170, 92.9%). Among these 158 patients, 22 (13.9%) had agranulocytosis with pyrexia (with no definite focus of infection), and 136 (86.1%) had definite focus of infection (including bloodstream infection). Other complications included non-infectious diarrhea, bleeding, and drug-induced hepatitis. Treatment-related mortality was observed in 10 children, among whom 8 had severe infection, 1 had multiple organ failure, and 1 had respiratory failure. Remission rate was evaluated for 156 children and the results showed a complete remission rate of 85.3%, a partial remission rate of 4.5%, and a non-remission rate of 10.3%.@*CONCLUSIONS@#Induction therapy with the MAE regimen helps to achieve a good remission rate in children with AML after one course of treatment. Infection is the main complication and a major cause of treatment-related mortality.


Subject(s)
Adolescent , Antineoplastic Combined Chemotherapy Protocols , Therapeutic Uses , Child , Child, Preschool , Cytarabine , Drug Administration Schedule , Etoposide , Female , Humans , Infant , Leukemia, Myeloid, Acute , Drug Therapy , Male , Mitoxantrone , Remission Induction
12.
Article in Chinese | WPRIM | ID: wpr-774063

ABSTRACT

OBJECTIVE@#To study the long-term clinical effect of CCLG-ALL2008 regimen in the treatment of children and adolescents, aged >10 years, with newly diagnosed acute lymphoblastic leukemia (ALL).@*METHODS@#A retrospective analysis was performed for the clinical data of 150 ALL children and adolescents aged >10 years who were treated with CCLG-ALL2008 regimen from April 2008 to April 2015. The Kaplan-Meier method was used to analyze overall survival (OS) rate and event-free survival (EFS) rate.@*RESULTS@#Among the 150 children and adolescents, there were 87 (58.0%) boys and 63 (42.0%) girls, with a median age of 11 years (range 10-15 years). Of the 150 children and adolescents, 84 (56.0%) had intermediate risk and 66 (44.0%) had high risk; 122 (81.3%) had B-lineage acute lymphoblastic leukemia (B-ALL) and 28 (18.7%) had T-lineage acute lymphoblastic leukemia (T-ALL). The fusion gene test yielded positive results in 51 children and adolescents (34.0%), among whom 16 (31%) had positive BCR-ABL, 11 (22%) had positive TEL-AML1, 8 (16%) had positive E2A-PBX1, and 16 (31%) were positive for other fusion genes. The complete remission rate was 96.0% (144/150) after one course of treatment with CCLG-ALL2008 regimen. The median follow-up time was 52 months (range 3-122 months). The 5-year OS rate was 79.0%±3.5%, and the 5-year EFS rate was 67.3%±4.1%. There were no significant differences in 5-year OS and EFS rates between the children with intermediate or high risk, as well as between the children with B-ALL or T-ALL (P>0.05). The children and adolescents who achieved complete remission of bone marrow at the end of induction therapy had significantly higher 5-year OS and EFS rates than those who did not achieve complete remission (P10 years, CCLG-ALL2008 regimen can help to achieve high complete remission rate, 5-year OS rate and 5-year EFS rate. The children and adolescents failing to achieve complete remission at the end of induction therapy tend to have a poor prognosis.


Subject(s)
Adolescent , Antineoplastic Combined Chemotherapy Protocols , Child , Disease-Free Survival , Female , Humans , Male , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Drug Therapy , Prognosis , Remission Induction , Retrospective Studies
13.
Chinese Journal of Pediatrics ; (12): 730-734, 2018.
Article in Chinese | WPRIM | ID: wpr-810205

ABSTRACT

Objective@#To investigate the efficacy and the prognostic factors of Chinese Academy of Medical Sciences 2005 (CAMS-2005) regimen in the treatment of pediatric acute myeloid leukemia (AML).@*Methods@#Eighty-eight cases of newly-diagnosed AML patients, who were treated with the CAMS-2005 regimen from April 2005 to July 2009, were enrolled in this case observational study. Clinical characteristics, long-term prognosis and prognostic factors were analyzed retrospectively. Overall survival (OS) and event free survival (EFS) rates were estimated by the Kaplan-Meier method. Rates of survival between the groups were compared by the Log-rank test. Prognostic factors were evaluated by COX regression analysis.@*Results@#A total of 82 cases were enrolled in this study, including 34 core binding factor(CBF)-AML patients and 48 non-CBF-AML patients. There were 45 males and 37 females. The median age at diagnosis was 8.0 (0.7-16.0) years. During the induction therapy, 3 patients (4%) developed treatment-related early-death, while 63 patients (77%) achieved complete remission (CR) and 53 patients (65%) achieved CR after 1 course. Twenty-one patients (33%) had relapsed disease. The CR rates of CBF-AML patients and non-CBF-AML patients were 91% (31/34) and 67% (32/48) (χ2=5.410, P=0.020) , while the relapse rates were 29% (9/31) and 38% (12/32) (χ2=0.508, P=0.476) . The 8-year OS and EFS rates of all 82 patients were 59%(48/82) and 51%(42/82). The 8-year OS rates of CBF-AML patients and non-CBF-AML patients were 74% (25/34) and 48%(23/48) (χ2=5.812, P=0.016), while the 8-year EFS rates of CBF-AML patients and non-CBF-AML patients were 71%(24/34) and 38%(18/48) (χ2=8.682, P=0.003). There were statistically significant differences between groups. The 8-year OS rates of patients who achieved CR after 1 course and other patients were 68% (36/53) and 46% (12/26) (χ2=9.606, P=0.002), while the 8-year EFS rates were 66% (35/53) and 27% (7/26) (χ2=19.471, P=0.000), the differences were all statistically significant. COX multivariate analysis showed that CBF-AML or non-CBF-AML and whether achieved CR after 1 course were independent prognostic factors of OS rates (relative risk: 2.538, 2.561) and EFS rates (relative risk: 3.050, 3.686) (P <0.05).@*Conclusions@#The efficacy of the CAMS-2005 regimen in the treatment of AML patients was well. CBF-AML or non-CBF-AML and whether achieved CR after 1 course were independent prognostic factors for pediatric AML patients.

14.
Chinese Journal of Hematology ; (12): 586-591, 2017.
Article in Chinese | WPRIM | ID: wpr-809049

ABSTRACT

Objective@#To evaluate heterogeneity and clonal evolution in pediatric ETV6-RUNX1+ acute lymphoblastic leukemia (ALL) in China.@*Methods@#Totally 48 children (<14 years) with newly diagnosed ETV6-RUNX1+ ALL in Institute of Hematology and Blood Disease Hospital, CAMS and PUMC, from February 2006 to June 2011 were included. The copy number variations were analyzed by quantitative multigene fluorescence in situ hybridization (QM-FISH) in 48 patients. Non-normal distribution of measurement data were shown with Median (range) , count data were shown with percent (%) . Overall survival and event-free survival were estimated by the Kaplan-Meier method and compared with the log-rank test.@*Results@#Forty-eight patients were tested by QM-FISH. Of 48 patients, 70.8% harbored one clone, 18.8% two subclones, and 10.4% three or more subclones. The clone heterogeneity was detected by two different models: the linear succession model and the branching evolution model. ETV6-RUNX1+ ALL relapse evolved from an ancestral clone or a new clone. The patients relapsed from a new clone got the worse outcome.@*Conclusion@#The clone evolution was detected in pediatric ETV6-RUNX1+ ALL in China. QM-FISH might be helpful to evaluate the outcome of relapsed patients. A new clone was associated with a poorer outcome.

15.
Article in Chinese | WPRIM | ID: wpr-279901

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the application of multiplex ligation-dependent probe amplification (MLPA) in the detection of copy number variations (CNVs) in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia (ALL), to compare this method with conventional karyotype analysis and fluorescence in situ hybridization (FISH), and to evaluate the value of MLPA.</p><p><b>METHODS</b>The clinical data of 95 children with ETV6/RUNX1-positive ALL who were treated from January 2006 to November 2012 were analyzed retrospectively, including clinical features, results of karyotype analysis, and results of FISH. CNVs were detected with MLPA.</p><p><b>RESULTS</b>CNVs were detected in 73 (77%), and the median number of CNVs was 1 (range 0-6). The CNVs of EBF1, CDKN2A/2B, PAX5, ETV6, RB1, and BTG1 were detected in more than 10% of all the patients. The changes in the chromosome segments carrying the genes with CNVs detected by MLPA were not detected by conventional karyotype analysis. The coincidence rate between the CNVs in ETV6 gene detected by FISH and those detected by MLPA was 66%.</p><p><b>CONCLUSIONS</b>MLPA is an efficient and convenient method to detect CNVs in children with ETV6/RUNX1-positive ALL.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Core Binding Factor Alpha 2 Subunit , DNA Copy Number Variations , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Male , Multiplex Polymerase Chain Reaction , Methods , Oncogene Proteins, Fusion , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Genetics
16.
Article in Chinese | WPRIM | ID: wpr-261243

ABSTRACT

<p><b>OBJECTIVE</b>To identify the incidence of PAX5 deletion in childhood B-lineage acute lymphoblastic leukemia (B-ALL) without reproducible chromosomal abnormalities and to investigate the association between PAX5 abnormalities and prognosis of ALL.</p><p><b>METHODS</b>Multiplex ligation-dependent probe amplification was used to determine the copy numbers of PAX5 gene in children newly diagnosed with B-ALL without reproducible chromosomal abnormalities between April 2008 and April 2013 and controls (children with non-hematologic diseases or tumors). The patients were classifiied into deletion group and non-deletion group based on the presence of PAX5 deletion.</p><p><b>RESULTS</b>Eighteen (21%) out of 86 children with B-ALL had PAX5 deletion. The deletion group had a significantly higher total white blood cell count at diagnosis than the non-deletion group (P=0.001). The Kaplan-Meier analysis demonstrated that the deletion group had a significantly lower disease-free survival (DFS) rate than the non-deletion group (0.69±0.12 vs 0.90±0.04; P=0.017), but there was no significant difference in the overall survival rate between the two groups (P=0.128). The Cox analysis showed that PAX5 deletion was a risk factor for DFS (P=0.03).</p><p><b>CONCLUSIONS</b>PAX5 deletion is an independent risk factor for DFS in B-ALL children without reproducible chromosomal abnormalities.</p>


Subject(s)
Acute Disease , Adolescent , Cell Lineage , Child , Child, Preschool , Chromosome Aberrations , Disease-Free Survival , Female , Gene Deletion , Humans , Infant , Male , PAX5 Transcription Factor , Genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma , Genetics , Mortality
17.
Article in Chinese | WPRIM | ID: wpr-261155

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the association between clinical outcome and gene mutations in children with Fanconi anemia (FA).</p><p><b>METHODS</b>A retrospective analysis was performed for the clinical data of six children with the same severity of FA and receiving the same treatment. At first, single cell gel electrophoresis and chromosome breakage induced by mitomycin C were performed for diagnosis. Then the gene detection kit for congenital bone marrow failure diseases or complementation test was used for genotyping of FA. Finally the association between the clinical outcome at 3, 6, 9, or 12 months after treatment and gene mutation was analyzed.</p><p><b>RESULTS</b>Of all the six FA children, five had FANCA type disease, and one had FANCM type disease; four children carried two or more FA gene mutations. Among the children with the same severity of FA, those with more FA mutations had a younger age of onset and poorer response to medication, and tended to progress to a severe type.</p><p><b>CONCLUSIONS</b>Children carrying more than two FA mutations have a poor clinical outcome, and hematopoietic stem cell transplantation should be performed as soon as possible.</p>


Subject(s)
Child , Child, Preschool , Fanconi Anemia , Genetics , Female , Humans , Male , Mutation , Retrospective Studies
18.
Chinese Journal of Pediatrics ; (12): 209-213, 2016.
Article in Chinese | WPRIM | ID: wpr-298275

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the copy number variations (CNVs) in pediatric ETV6/RUNX1 gene positive acute lymphoblastic leukemia(ALL) and its correlation with clinical features and prognosis.</p><p><b>METHOD</b>Totally 141 children (<14 years of age) with newly diagnosed ETV6/RUNX1 positive ALL in Institute of Hematology and Blood Diseases Hospital, were included from January 2006 to November 2012. The CNVs were analyzed by multiplex ligation-dependent probe amplification (MLPA). The survival rate between the patients with CNVs were explored. Overall survival (OS) and event-free survival (EFS) were estimated by the Kaplan-Meier method and compared with the log-rank test.</p><p><b>RESULT</b>Among the 141 cases, 55.3% (n=78) were boys and 44.7% (n=63) were girls and the median age was 4 (1-13) years. The estimated 5-year DFS rate for the patients was (84±4)%. The estimated 5-year OS rate for the patients was (85±4)%. Ninety-five patients were tested MLPA. CNVs were detected in 73 cases (76.8%). CNVs of genes EBF1(15.8%), CDKN2A/2B(18.9%), PAX5(21.1%), ETV6(54.8%), BTG1(10.5%) were detected in more than 10% of the patients. Among the 95 patients, EBF1 deletions were found in 9 patients and EBF1 amplifications were found in 6 patients; 5-year recurrence-free survival (RFS) was statistically significant among 3 groups (χ(2)=9.809, P=0.007) . PAX5 deletions were found in 13 patients and PAX5 amplifications were found in 7 patients; the difference in 5-year RFS was statistically significant between 3 groups(χ(2)=7.622, P=0.022). ETV6 deletions were found in 39 patients and ETV6 amplifications were found in 13 patients; the difference in 5-year RFS was statistically significant among the 3 groups (χ(2)=11.045, P=0.004).</p><p><b>CONCLUSION</b>The CNVs had prognostic relevance in ETV6/RUNX1 positive ALL.</p>


Subject(s)
Adolescent , Child , Core Binding Factor Alpha 2 Subunit , DNA Copy Number Variations , Disease-Free Survival , Humans , Multiplex Polymerase Chain Reaction , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Prognosis , Proto-Oncogene Proteins c-ets , Repressor Proteins , Survival Rate
19.
Chinese Journal of Pediatrics ; (12): 126-130, 2016.
Article in Chinese | WPRIM | ID: wpr-351438

ABSTRACT

<p><b>OBJECTIVE</b>To identify ikaros family zinc finger1 (IKZF1) deletion in patients with pediatric B cells-acute lymphoblastic leukemia (B-ALL) without reproducible chromosomal abnomalities and further investigate its value in this part of patients' pathogenesis and prognosis.</p><p><b>METHOD</b>The study was approved by the institutional review board of the authors' hospital and informed consent was obtained from the patients and/or their legal guardians. Data of 96 children with B-ALL patients without reproducible cytogenetic abnormalities whose bone marrows specimens were enough for DNA extraction for the detection were retrospectively selected. All the patients were diagnosed and systematically treated according to CCLG-ALL2008 in our hospital from April 2008 to April 2013. The 96 patients were divided into two groups according to the result of IKZF1's detection by multiplex ligation-dependent probe amplification (MLPA): The cases that with any of eight exons of IKZF1 deleted were entered into"Group with IKZF1 deletion"otherwise entered"Group without IKZF1 deletion". Disease free survival (DFS), event-free survival (EFS) and overall survival (OS) were compared between the two groups.</p><p><b>RESULT</b>Nineteen out of 96 B-ALL patients without reproducible cytogenetic abnormalities had IKZF1 deletion (20%). Three of 19 patients with IKZF1 deletions of the whole gene; ten of 19 patients with IKZF1 deletions of exon 1; 4 of 19 patients with IKZF1 deletions of exons 4-7; one of 19 patients with IKZF1 deletions of exons 2-7 and one of 19 patients with IKZF1 deletions of exons 1-6. Whose white blood cell (WBC) ≥ 50 × 10(9)/L inIKZF1 diletion group was more than whthout IKZF1 deletion group(42% vs. 13%, P=0.004). Patients with IKZF1 deletions had a lower 3-year DFS (0.67 ± 0.13 vs. 0.93 ± 0.04, P=0.001); EFS (0.67 ± 0.13 vs. 0.90 ± 0.04, P = 0.012) and OS(0.79 ± 0.09 vs. 0.96 ± 0.02, P=0.010) compared to those without IKZF1 deletions. Excluding the influence of sex, age, WBC count at diagnosis, cerebrospinal fluid state and prednisone response IKZF1 deletion still affected the patients' DFS, EFS and OS ( P<0.05 for all comparisons).</p><p><b>CONCLUSION</b>Some of pediatric B-cell precursor ALL without reproducible cytogenetic abnormalities had been detected to have IKZF1 deletion; IKZF1 deletion is an independent poor prognostic factor in these patients.</p>


Subject(s)
Child , Chromosome Aberrations , Disease-Free Survival , Exons , Gene Deletion , Humans , Ikaros Transcription Factor , Genetics , Multiplex Polymerase Chain Reaction , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma , Genetics , Prognosis , Zinc Fingers
20.
Article in Chinese | WPRIM | ID: wpr-507820

ABSTRACT

Objective:Adenoid cystic carcinoma (ACC) is an uncommon malignant neoplasm, which mostly originates from the major and minor salivary glands of the head and neck region. This study aims to provide new information on head and neck ACC with cervical lymph node metastasis. Methods:Out of the 616 patients who underwent primary tumor resection from 1995 to 2008 in the authors' hospital, 62 cases with cervical lymph node metastasis were analyzed. Results:The general incidence rate of cervical lymph node me-tastasis in ACC was approximately 10%. The base of the tongue, mobile tongue, and mouth floor were the most frequent sites of lymph node metastasis with incidence rates of 19.2%, 17.6%, and 15.3%, respectively. Most cases exhibited the classictunnel-stylemetastatic pattern of occurrence, and the levelⅠb andⅡregions were the most frequently involved areas. Primary site and lympho-vascular invasions were significantly associated with lymph node metastasis. High patient mortality rate was also significantly correlat-ed with a high number of lymph node positive cases. Conclusion:Cervical lymph node metastasis has a high tendency of occurrence in the tongue-mouth floor complex, following the classictunnel-stylemetastatic pattern. Peritumoral lymphovascular invasion could be taken as a strong predictor for the occurrence of lymph node metastasis, which ultimately leads to poor prognosis of ACC patients. A selective neck dissection should be considered as a management in such patients.

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