Clinical features and prognosis of juvenile myelomonocytic leukemia: an analysis of 63 cases / 中国当代儿科杂志

OBJECTIVES@#To investigate the clinical features of juvenile myelomonocytic leukemia (JMML) and their association with prognosis.@*METHODS@#Clinical and prognosis data were collected from the children with JMML who were admitted from January 2008 to December 2016, and the influencing factors for prognosis were analyzed.@*RESULTS@#A total of 63 children with JMML were included, with a median age of onset of 25 months and a male/female ratio of 3.2∶1. JMML genetic testing was performed for 54 children, and PTPN11 mutation was the most common mutation and was observed in 23 children (43%), among whom 19 had PTPN11 mutation alone and 4 had compound PTPN11 mutation, followed by NRAS mutation observed in 14 children (26%), among whom 12 had NRAS mutation alone and 2 had compound NRAS mutation. The 5-year overall survival (OS) rate was only 22%±10% in these children with JMML. Of the 63 children, 13 (21%) underwent hematopoietic stem cell transplantation (HSCT). The HSCT group had a significantly higher 5-year OS rate than the non-HSCT group (46%±14% vs 29%±7%, P<0.05). There was no significant difference in the 5-year OS rate between the children without PTPN11 gene mutation and those with PTPN11 gene mutation (30%±14% vs 27%±10%, P>0.05). The Cox proportional-hazards regression model analysis showed that platelet count <40×109/L at diagnosis was an influencing factor for 5-year OS rate in children with JMML (P<0.05).@*CONCLUSIONS@#The PTPN11 gene was the most common mutant gene in JMML. Platelet count at diagnosis is associated with the prognosis in children with JMML. HSCT can improve the prognosis of children with JMML.

Genomics of next generation sequencing in pediatric B-acute lymphoblastic leukemia and its impact on minimal residual disease / 中华儿科杂志

Objective: To describe the gene mutation profile of newly diagnosed pediatric B-acute lymphoblastic leukemia (B-ALL) and analyze its effect on minimal residual disease (MRD). Methods: A total of 506 newly diagnosed B-ALL children treated in Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences from September 2018 to July 2021 were enrolled in this retrospective cohort study. The enrolled children were divided into MRD ≥1.00% group and <1.00% group according to MRD results on the 19th day since chemotherapy, and MRD ≥0.01% group and <0.01% group according to MRD results on the 46th day. Clinical characteristics and gene mutations of two groups were compared. Comparisons between groups were performed with chi-square test or Fisher's exact test. Independent risk factors of MRD results on the 19th day and the 46th day were analyzed by Logistic regression model. Results: Among all 506 patients, there were 318 males and 188 females. On the 19th day, there were 114 patients in the MRD ≥1.00% group and 392 patients in the MRD <1.00% group. On the 46th day, there were 76 patients in the MRD ≥0.01% group and 430 patients in the MRD <0.01% group. A total of 187 gene mutations were detected in 487 (96.2%) of 506 children. The most common gene mutations were signal transduction-related KRAS gene mutations in 111 cases (22.8%) and NRAS gene mutations in 99 cases (20.3%). Multivariate analysis showed that PTPN11 (OR=1.92, 95%CI 1.00-3.63), KMT2A (OR=3.51, 95%CI 1.07-11.50) gene mutations and TEL-AML1 (OR=0.48, 95%CI 0.27-0.87), BCR-ABL1 (OR=0.27, 95%CI 0.08-0.92) fusion genes and age >10 years (OR=1.91, 95%CI 1.12-3.24) were independent influencing factors for MRD ≥1.00% on the 19th day. BCORL1 (OR=2.96, 95%CI 1.18-7.44), JAK2 (OR=2.99, 95%CI 1.07-8.42) and JAK3 (OR=4.83, 95%CI 1.50-15.60) gene mutations and TEL-AML1 (OR=0.43, 95%CI 0.21-0.87) fusion gene were independent influencing factors for MRD ≥0.01% on the 46th day. Conclusions: Children with B-ALL are prone to genetic mutations, with abnormalities in the RAS signaling pathway being the most common. Signal transduction related PTPN11, JAK2 and JAK3 gene mutations, epigenetic related KMT2A gene mutation and transcription factor related BCORL1 gene mutation are independent risk factors for MRD.

The Correlation of Minimal Residual Disease with Prognosis in TCF3-PBX1 / 中国实验血液学杂志

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.

Pharmacokinetics and pharmacodynamics of pegylated recombinant human granulocyte colony-stimulating factor in children with acute lymphoblastic leukemia: a prospective control trial / 中国当代儿科杂志

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.

Sequence analysis of therapeutic monoclonal antibody / 药学学报

Sequence analysis of DNA, mRNA and protein is an essential component of biologics or bioprocess development. Analysis of sequences at the DNA, mRNA, and protein levels after the transfer of the gene of interest into a host cell is an important part of quality control. This article reviews the application of new technologies such as next-generation sequencing and LC-MS/MS in biological drug development such as monoclonal antibodies. These techniques have different requirements in term of cost, handling time and expertise. Selecting an appropriate technique with a sound rationale at different stages of drug development will add to the success rate of research and development, and ensure product quality, thus ensuring the clinical efficacy and safety.

Assessment of monoclonality of cell bank for recombinant biologics production / 药学学报

To ensure the consistency of quality in recombinant protein production, the cell bank for biologics should be derived from a single clone. A number of techniques have been used for cloning and assurance from the cellular pool after transfection with a target gene. Here, using CHO cell as an example, we summarize the knowledge and understanding of monoclonality of production cell bank from both industries and regulatory authorities, and propose general considerations on the requirements of monoclonality for clinical trial application and new drug application based on current techniques. Furthermore, we suggest quality control strategies and assessment methods for those cell banks from non-single clones.

Evaluation of individualized medication under the guidance of genetic testing in the management of hypertension patients in rural areas / 中华疾病控制杂志

Objective This study combined genotyping with family doctors' contracting model to assess the application of precision medicine in rural patients with essential hypertension. Methods In this study, 209 hypertensive patients from 3 villages in Lujiang County, Hefei City, Anhui Province were selected as subjects and randomly divided into experimental group(n=105) and control group(n=104). The medication regimen of observation group was guided by genetic testing for gene sensitivity to antihypertensive drugs, and the control group was implemented routine pharmacy. All the patients were managed by family doctors. Adverse drug reaction rate, treatment compliance, blood pressure, body mass index (BMI), fasting blood glucose (FBG), cholesterol (TC), and triglycerides (TG) of the two groups were analyzed, respectively, during the 6-month intervention. Results After 6-month of intervention, the medication compliance of the experimental group were significantly higher than that of the control group, and the blood pressure and adverse drug reaction rate were significantly lower than that of the control group. After 3 months of intervention, there was no significant decrease in BMI, FBG, TC and TG in the two groups. After 6 months of intervention, the FBG, TC and TG of the experimental group were significantly decreased,while only the FBG value of the control group was significantly decreased. There were no significant changes in body mass index (BMI) values in both groups. Conclusions Individualized medication guided by genotyping can improve the treatment compliance, reduce the adverse drug reaction rate, and improve the treatment efficiency of patients with essential hypertension.

Clinical features and prognosis of children with acute lymphoblastic leukemia and different platelet levels / 中国当代儿科杂志

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.

Advance in Minocycline for Spinal Cord Injury (review) / 中国康复理论与实践

The treatment of spinal cord injury has been the research priorities in basic and clinical medicine. This article described the mechanism of minocycline in treating spinal cord injury, including antioxidant activity, reduction of apoptosis, anti-inflammatory activity and selective regulation of microglia activation, and recent advances in clinical trials of minocycline. Minocycline targets multiple secondary injury mechanisms to promote the recovery of spinal cord injury, and further basic and clinical research will maximize the efficacy of minocycline.

Adverse perinatal outcomes and related factors analysis of twin pregnancy in young cases after IVF/ICSI-ET / 实用医学杂志

Objective To compare the perinatal outcomes between singleton and twin pregnancies and the influencing factors in young cases(age < 35)after in vitro fertilization/egg cell sperm injection-embryo transfer (IVF/ICSI-ET). Methods A retrospective study was performed to analysis the perinatal outcomes of the young cases after IVF/ICSI-ET from January 2015 to July 2016.Results The total abortion rate,early abortion rate and the average body weight of the twin group were significantly lower than the singleton group(P < 0.05),the mid-term abortion rate,the preterm delivery rate,cesarean section rate and the low birth weight rate were opposite (P<0.05),while the total pregnancy loss rate and the rate of birth defects were not significantly different between the groups(P>0.05).The frozen-thawed embryo transfer,blastocyst transfer and double-embryo transfer were the risk factors of twin pregnancy. Conclusions Twin pregnancy may increase the risk of adverse perinatal outcomes. Selective single blastocyst transfer during frozen-thawed cycle is an effective measure for young cases,in which it can keep a balance between high clinical pregnancy rate and reducing twin pregnancy rate.

Tissue-engineered heart: electrophysiological properties and long-term safety / 中国组织工程研究

BACKGROUND: Insufficiency of donor heart and ethics are the major obstacles to heart transplantation. Theoretically, a tissue-engineered heart is an important means to solve the donor heart insufficiency. OBJECTIVE: To review the scaffold materials, seed cells and cell incubation methods in the construction of tissue-engineered heart, thus providing references for the future study on the tissue-engineered heart.METHODS: A retrieval of PubMed and Web of Science databases was performed for the articles addressing the construction of tissue-engineered heart from 2004 to 2016. Totally 2 921 articles were searched, and finally 53 eligible articles were included in accordance with the inclusion and exclusion criteria. RESULTS AND CONCLUSION:In vitro organ culture and the function of tissue-engineered heart are the difficulties in the construction of tissue-engineered heart.In vitro construction of tissue-engineered heart requires the supply of nutrients,gases,temperature and corresponding electrical stimulation. Myocardial cells, scaffold materials and organ culture system are indispensable for the tissue-engineered heart construction. Therefore, it is highly important to optimize the decellular process, select an ideal seed cell and improve its adhesion, proliferation and differentiation, improve the electrophysiological properties of the tissue-engineered heart by gene regulation, and confirm the long-term safety of the tissue-engineered heart.

Preoperative application of combination of portal venous injection of donor spleen cells and intraperitoneal injection of rapamycin prolongs the survival of cardiac allografts in mice

OBJECTIVE@#To investigate the effects of preoperative portal venous injection of donor spleen cells (PVIDSC) and intraperitoneal injection of rapamycin in the acute rejection of cardiac allograft in mice and the underlying mechanisms.@*METHODS@#Homogenous female B6 mice and BALB/c mice were used as recipients and donors of heart transplantation. These mice were randomly divided into different groups and received PVIDSC alone, rapamycin alone, or PVIDSC and rapamycin combined therapy. In addition, the underlying mechanism was studied by measuring a number of cytokines.@*RESULTS@#Preoperative combination of PVIDSC and intraperitoneal injection of rapamycin significantly prolonged the survival of heterotopic cardiac allograft in mice, but had no effects on the survival time of cardiac allografts in mice pre-sensitized by skin grafting. Preoperative combination of PVIDSC and intraperitoneal injection of rapamycin increased the expression of IL-10 and Foxp3 and reduced the expression of INF-. Short-term preoperative administration of rapamycin promotes the expression of CD4CD25Foxp3 regulator T cells. However, preoperative using alone of rapamycin, or combination of PVIDSC and rapamycin had no effects on the inhibition of proliferation of memory T cells.@*CONCLUSIONS@#Preoperative application of combination of PVIDSC and rapamycin significantly prolonged the survival time of cardiac allografts in mice but not in mice pre-sensitized by skin grafting. This may be explained by the fact that combination of PVIDSC and rapamycin inhibited the cellular immune response and induced the expression of IL-10 from Tr1 cells and CD4CD25FoxP3 regulatory T cells.

Preoperative application of combination of portal venous injection of donor spleen cells and intraperitoneal injection of rapamycin prolongs the survival of cardiac allografts in mice

Objective To investigate the effects of preoperative portal venous injection of donor spleen cells (PVIDSC) and intraperitoneal injection of rapamycin in the acute rejection of cardiac allograft in mice and the underlying mechanisms. Methods Homogenous female B6 mice and BALB/c mice were used as recipients and donors of heart transplantation. These mice were randomly divided into different groups and received PVIDSC alone, rapamycin alone, or PVIDSC and rapamycin combined therapy. In addition, the underlying mechanism was studied by measuring a number of cytokines. Results Preoperative combination of PVIDSC and intraperitoneal injection of rapamycin significantly prolonged the survival of heterotopic cardiac allograft in mice, but had no effects on the survival time of cardiac allografts in mice pre-sensitized by skin grafting. Preoperative combination of PVIDSC and intraperitoneal injection of rapamycin increased the expression of IL-10 and Foxp3 and reduced the expression of INF-. Short-term preoperative administration of rapamycin promotes the expression of CD4

Significance of PAX5 deletion in childhood B-lineage acute lymphoblastic leukemia without reproducible chromosomal abnormalities / 中国当代儿科杂志

<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>

Association between clinical outcome and gene mutation in children with Fanconi anemia / 中国当代儿科杂志

<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>

Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification / 中国当代儿科杂志

<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>

Clinical comparative study of oxycodone sustained-release tablet versus morphine tablet in dose titration therapy on moderate and severe chronic cancer pain / 中国医师进修杂志

Objective To observe the clinical effect and adverse reaction of oxycodone sustained-release tablet and morphine tablet in dose titration therapy on moderate and severe chronic cancer pain. Methods Sixty patients suffering from moderate and severe cancer pain, without using opioid drugs, were divided into oxycodone sustained-release tablet group and morphine tablet group by random digits table method with 30 cases each. The patients in oxycodone sustained-release tablet group were administered 10 mg oxycodone sustained-release tablet every 12 h, and the patients in morphine tablet group were administered 5 or 10 mg morphine tablet whenever needed. The total dose of opioid drugs was acquired after 24 h, and was converted into equal dose of oxycodone sustained-release tablet. The condition of pain control and adverse reaction were observed and recorded in a week. Results During the titration, the number of daily outbreak pain and daily medication in oxycodone sustained-release tablet were significantly lower than those in morphine tablet:(1.27 ± 1.53) times vs. (4.87 ± 1.98) times and (3.37 ± 1.78) times vs. (5.10 ± 2.20) times, and there were statistical differences (P0.05). At the first day after titration, the incidence of daily outbreak pain in oxycodone sustained-release tablet was significantly lower than that in morphine tablet:23.33%(7/30) vs. 53.33% (16/30), the rate of reaching steady pain control state was significantly higher than that in morphine tablet: 86.67% (26/30) vs. 63.33% (19/30), and there were statistical differences (P0.05). Conclusions The pain relief rate and side effect of oxycodone sustained-release tablet is similar to that of morphine tablet in dose titration therapy on moderate and severe chronic cancer pain, but analgesic effect is faster than morphine tablet. Oxycodone sustained-release tablet decreases the number of outbreak pain and relieves patients′ pain in the titration process. Oxycodone sustained-release tablet may have advantage of time and effect, which is worth to be widely used in clinical therapy.

Efficacy and safety of imatinib for the treatment of Philadelphia chromosome-positive acute lymphoblastic leukemia in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the efficacy and safety of Chinese Childhood Leukemia Group ALL 2008 (CCLG-ALL2008) protocol combined with tyrosine kinase inhibitor (TKI, imatinib) for the treatment of Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia (ALL) in children.</p><p><b>METHODS</b>The clinical data of 53 patients aged less than 15 years when first diagnosed with Ph+ ALL between October 2008 and December 2013 were retrospectively analyzed. The patients were assigned to two groups: HR (n=26) and HR+TKI (n=27). The HR group was treated with CCLG-ALL2008 protocol (for high-risk patients). The HR+TKI group was treated with imatinib in combination with CCLG-ALL2008 protocol (for high-risk patients).</p><p><b>RESULTS</b>The complete remission rate and chemotherapy induction-related mortality rate in the TKI+HR and HR groups were 100% vs 75% and 0 vs 15%, respectively. The 3-year event-free survival (EFS) rate in the HR group was (6±5)%; the 5-year EFS rate of the TKI+HR group was (52±11)%. Compared with the HR group, the TKI+HR group had no increase in the toxic responses to chemotherapy and had a decrease in the infection rate during the induction period.</p><p><b>CONCLUSIONS</b>Application of imatinib significantly improves the clinical efficacy in children with Ph+ ALL and has good safety.</p>

Genotype analysis and telomere length measure in patients with dyskeratosis congenita / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To analysze genotype and measure telomere length in two Chinese patients with dyskeratosis congenita(DC).</p><p><b>METHODS</b>The peripleral blood DNA was extracted in two patients characterized by mucocutaneous abnormalities (abnormal nails, lacy reticulated skin pigmentation, and oral leukoplakia), bone marrow failure, DC genes were amplified by polymerase chain reaction (PCR), including DKC1, TERT, TERC, TINF2, NOP10, NHP2, then DNA sequencing was performed for abnormal exons. Lymphocyte telomere length was measured by flow cytometry-fluorescence in situ hybridization(Flow-FISH).</p><p><b>RESULTS</b>Abnormal peaks were found in exon 6 of TINF2 gene of the two patients and a 811C→T transition in TINF2 gene in one patient. DNA sequencing showed a 848C→A transition in TINF2 gene in another patient. Relative telomere length was remarkable less than that of normal children with same age.</p><p><b>CONCLUSIONS</b>Physician should think about DC if the young patients with mucocutaneous abnormalities and marrow failure. Early detection of related genes and measurernant of tolomere length may contribute to avoid misdiagnosis. TINF2 c.811C→T (Q271X) and TINF2 c.848C→A (P283H) exist in the two patients, it is reported in China for the first time.</p>

Copy number variations in pediatric acute myeloid leukemia / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To evaluate the copy number variations (CNV) of gene in pediatric acute myeloid leukemia (AML) and its correlation with clinical features and prognosis.</p><p><b>METHODS</b>The clinical data of 130 children aged <14 years with newly diagnosed AML from May 2006 to March 2013 were analyzed restrospectively. The CNV were analyzed by multiplex ligation-dependent probe amplification (MLPA). Thirty-eight normal children were selected in control group. All the data were statistically analyzed using SPSS16.0 software.</p><p><b>RESULTS</b>gene CNV of 2p24.3(MYCN), 10q23(PTEN) and 13q14(RB1, MIR15A, DLEU) were detected in more than 10% of the patients. CNV were detected in 49 cases(37.7%). The median loss and gain CNV frequencies per sample were 4. The CNV of TP53 correlated significantly with relapse. The loss ond gain CNV have no influence to EFS, DSF and OS. CNV were detected in the twelve percent of patients, but they were not detected with routine karyotype method.</p><p><b>CONCLUSION</b>The MLPA technique combined with karyotyping makes a substantial increase in the diagnostic rate. Patients with TP53 alterations have significantly higher relapse rate.</p>