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Introducción: La leucemia linfoblásticaaguda (LLA) es una de las oncopatologías más frecuentes a nivel infantil, ocupando el primer lugar de los cincos tipos de cáncer con mayor incidencia en Ecuador. El objetivodel estudio fue determinar las frecuencias genotípicas y alélicas delos polimorfismos genéticos de MTHFR 677C>T (rs1801133) y MTHFR 1298A>C(rs1801131) en niños con leucemia linfoblástica aguda de SOLCA Loja y SOLCA Cuenca. Métodos:Es un estudio transversal, donde se evaluó a 160 pacientes pediátricosdiagnosticados con LLA. La detección de lospolimorfismos MTHFR 677C>T y 1298A>C se realizó mediante la técnica PCR entiempo real. El análisis estadístico descriptivo se desarrolló a través del software IBM SPSS (versión 22) y el programa bioinformático SNPStats. Resultados: Se determinóque las frecuencias genotípicas para el SNP MTHFR 677C>T fueron 25% C/C y 75%C/T con una frecuencia alélica del 38% para el alelo mutado (T). Para el SNP MTHFR1298 A>C se encontró una frecuencia genotípica de 2% A/A, 16% A/C y 82% C/C, entanto que su frecuencia alélica fue del 90% para el alelo mutado (C). No se encontróasociación genotípica ni alélica con ninguna de las variables intervinientes (p>0.05),así como tampoco se manifestó una correlación estadísticamente significativa de lospolimorfismos en mención y el tipo de riesgo de LLA. Conclusión:En la población estudiada con LLA, se evidenció para el SNP de MTHFR 677C>T una frecuencia genotípica del 75% para el heterocigoto C/T. Para el SNP MTHFR 1298A>C se encontró una frecuencia genotípica del 82% para el homocigoto mutado C/C. La distribución de la frecuencia alélica se mostró de la siguiente manera: para MTHFR 677C>T se obtuvo 38% para el alelo mutado T y en cuanto a MTHFR 1298 A>C, 90% correspondió para el alelo mutado C. En el análisis estadístico no se encontró asociación genotípica ni alélica con las variablesdemográficas y clínicas
Introduction:Acute lymphoblastic leukemia (ALL) is one of the most frequent oncopathologiesin childhood, occupying the first place of the five types of cancer with the highest incidence in Ecuador. The objective of the study was to determine the genotypic and allelic frequencies of the genetic polymorphisms of MTHFR 677C> T (rs1801133) and MTHFR 1298A> C (rs1801131) in children with acute lymphoblastic leukemia from SOLCA -Loja and SOLCA -Cuenca. Methods: It is a cross-sectional study, where 160 pediatric patients diagnosed with ALL were evaluated. The detection of MTHFR 677C> T and 1298A> C polymorphisms was performed using the real-time PCR technique. The descriptive statistical analysis was developed using the IBM SPSS software (version 22) and the SNPStats bioinformatics program. Results: It was determined that the genotype frequencies for the SNP MTHFR 677C> T were 25% C / C and 75% C / T with an allele frequency of 38% for the mutated allele (T). For the SNP MTHFR 1298 A> C, a genotype frequency of 2% A / A, 16% A / C and 82% C / C was found, while its allelic frequency was 90% for the mutated allele (C). No genotypic or allelic association was found with any of the intervening variables (p> 0.05), as well as no statistically significant correlation of the mentioned polymorphisms and the type of risk of ALL. Conclusion: In the population studied with ALL, a genotypic frequency of 75% was evidenced for the MTHFR 677C> T SNP for the heterozygous C / T. For the SNP MTHFR 1298A> C, a genotypic frequency of 82% was found for the homozygous mutated C / C. The allelic frequency distribution was shown as follows: for MTHFR 677C> T, 38% was obtained for the mutated allele T and for MTHFR 1298 A> C, 90% corresponded to the mutated allele C. In the statistical analysis No genotypic or allelic association was found with demographic and clinical variables
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Humans , Polymorphism, Genetic , Leukemia, Biphenotypic, Acute , Precursor Cell Lymphoblastic Leukemia-LymphomaABSTRACT
Objective@#To analyze the incidence and mutation characteristics of FLT3 gene mutation and clinical efficacy of tyrosine kinase inhibitor (TKI) in patients with mixed phenotype acute leukemia (MPAL).@*Methods@#A total of 48 patients with MPAL who were admitted to Hebei Yanda Lu Daopei Hospital from June 2015 to February 2018 were retrospectively analyzed. The common mutated 58 genes in hematologic malignancies were detected by using amplicon-targeted next generation sequencing, of which internal tandem duplication (ITD) and point mutation occurred in the hotspot region of exon 14, 15 and 20 in FLT3 gene. Multiplex polymerase chain reaction (PCR) analysis was used to detect 35 gene fusions in hematological neoplams.@*Results@#There were 7 cases of FLT3 mutation in 48 MPAL patients, which were all ITD mutations. The median length of the inserts of FLT3-ITD was 48 bp, and one MPAL patient carried 2 multiple length inserts simultaneously, and the median variant allele frequency (VAF) was 40.5% (7.9%-84.7%). There were no statistically significant differences in clinical and genetic characteristics between FLT3 mutation-positive and FLT3 mutation-negative MPAL patients (both P > 0.05). Among 7 FLT3 mutation-positive MPAL patients, 4 cases were often accompanied with RUNX1 mutation. A total of 4 MPAL patients with FLT3-ITD-positive received sorafenib or sunitinib combined chemotherapy, and 3 of them achieved complete remission.@*Conclusions@#ITD mutation is the main part in the FLT3 mutation of MPAL patients. FLT3-ITD-positive MPAL patients are often accompanied with RUNX1 mutation, which may benefit from targeted therapy with FLT3 kinase inhibitor.
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Objective To explore the effect of high quality nursing on the negative emotions and the complication in patients with acute leukemia, providing the basis for the clinical nursing work in acute leukemia disease. Methods A total of 94 cases with acute leukemia disease who were treated in the hospital from January 2014 to December 2015 were recruited as the study objects. The patients were divided into the observation group and the control group according to the random digit table method, with 46 cases in each group. The control group was given routine nursing, while the observation group was given high quality nursing. The nursing quality was compared between the two groups, mainly on the scores of the nursing quality, the incidence of postoperative complications, negative emotions and satisfaction of children and their families before and after nursing. Results The comprehensive quality score of nursing in nursing skills, nurses' attitude, ward management and health education in the observation group were significantly higher than that in the control group, and the difference were statistically significant (χ2=17.542- 38.002, P<0.01). The incidences of postoperative complications (infection, phlebitis, hemorrhage, fever) in the observation group were 4.25%(2/47), 2.13%(1/47), 4.25%(2/47), 0,which were significantly lower than those in the control group,17.14%(6/47), 10.64%(5/47), 17.14%(6/47), 6.38%(3/47),and the differences were statistically significant (χ2=3.683-4.021, P<0.05 or 0.01). The scores of negative sentiment in the process of treatment and after the treatment in the observation group were 27.82±7.04, 33.25±8.37,significantly lower than those in the control group, 36.02± 6.81, 45.74 ± 9.13,and the differences were statistically significant(t=3.992, 4.006, P<0.05). The satisfaction of patients and their families in the observation group was 95.74%(45/47),significantly higher than that in the control group, 72.34%(34/47), and the difference was statistically significant (χ2=4.336, P=0.001). Conclusions High quality nursing could reduce the negative emotions and complication of children with the acute leukemia disease effectively, improve the quality of nursing work, and enhance the satisfaction of the family, which had the characteristics of efficiency, scientificalness, rationality and convenience, and has important guiding significance for clinical management of acute leukemia diseases and related nursing work.
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Objective To analyze the clinical features and risk factors of invasive fungal infections (IFI) in children with acute leukemia.Methods Ninety-six acute leukemia children complicated with IFI admitted in Guangzhou Women and Children's Medical Center during January 2005 and February 2017 were retrospectively reviewed, and 96 cases of acute leukemia without IFI admitted at the same period were randomly selected as control group.The clinical manifestations of IFI were analyzed, multivariate Logistic regression was used to study risk factors of the complication of IFI in pediatric acute leukemia.Results Among 96 children complicated with IFI, fungus were detected in samples from sputum, bronchoalveolar lavage fluid, or blood in 78 cases, in which 42 cases (43.75％) were oral infection, 36 cases (37.50％) were pulmonary infection.Candida albicans (33.33％, 26/78) was the most commonly isolated pathogen, followed by Candida parapsilosis (20.51％, 16/78) and Candida tropicalis (20.51％, 16/78).Univariate analysis revealed hormone-containing chemotherapy, neutropenia (＜ 0.5 × 109/L), time duration of neutropenia ≥ 10 days, usage of carbapenem antibiotics and combined drug administration ≥2 types were associated with fungal infection (P ＜ 0.05 or ＜0.01).Multivariate Logistic regression showed that the time duration of neutropenia ≥ 10 days (OR =11.390, 95％ CI 4.145-55.263, P ＜ 0.01),usage of carbapenem antibiotics (OR =4.825, 95％ CI 1.681-13.842, P ＜ 0.01) and hormone-containing chemotherapy (OR =2.220, 95％ CI 1.542-8.246, P ＜ 0.05) were the independent risk factors of IFI.Conclusion Rational usage of antibiotics and effective measures taken to restore the granulocytes can help to reduce the incidence of IFI in children with acute leukemia.
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Objective To describe fatigue among children with acute lymphoblastic leukemia (ALL)receiving chemotherapy in hospital and explore its related factors.Methods A total of 100 hospitalized children with ALL receiving chemotherapy and their main caregivers were surveyed on demographic information,treatment data,Wong-Baker facial scale and the PedsQLTMMFS Multidimensional Fatigue Scale.Results The incidence of fatigue was 99％ (99/100).The total score of fatigue scale was (56.71±17.32) on average.Multiple linear regression modeling showed that the factors related with fatigue included the time of dexamethasone use,childen's sleep quality,hemoglobin content,pain score,the time for the present chemotherapy,age and main caregivers' self-rating health status (P＜ 0.05 or 0.01).Conclusions Fatigue is serious among children with ALL receiving chemotherapy and is related with demographic factors,diseases,treatment condition and health status of the caregivers.
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Objective To evaluate the clinical significance of minimal residual disease (MRD)detecion in ALL-B of children by flow cytometric (FCM).Methods 52 cases of children with ALL-B were performed bone marrow MRD by FCM analisis after induction therapy,3 moths therapy,and 6 moths therapy.After that,MRD detection was performed every 6 months. According to disease risks, three group were categorized,standard risk (SR),imidiete risk (IR) and high risk(HR).Results After 6 months,SR groups MRD positive cases were 4/21(19 ％),IR groups MRD position cases were 8/23 (35 ％),HR groups MRD position cases were 5/8 (63 ％).9 cases relapsed in all 52 patients.There were significant differrence in replased rate between the positive and negtive MRD (P＜0.001). Conclution The dynamic detection of MRD by FCM can be used to evaluate the therapeutic effect and prognosis of children with ALL-B. It is also useful in adjusting treatment strategy and for following up in children with ALL.
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Objective To introduce the laboratory and clinical characteristics of acute lymphoblastic leukemia accompanied by the karyotypic abnormality of 5q-.Methods Report the diagnosis and treatment of one case of acute lymphoblastic leukemia with 5q- and review the relevant literatures.Results The patient came to the hospital because of bellyache and ostalgia.The blood routine showed a high WBC count and reduced platelets.Bone marrow aspirates examination indicated acute leukemia and by peroxidase staining and flow cytometry test,acute pro-T lymphoblastic leukemia was diagnosed.The karyotype and fluorescence in situ hybridization analysis showed 5q-.The hyper-CVAD regimen induced a temporary remission but it did not work anymore after the relapse nor did the MEA regimen.From the literatures ever reported,the kyryotypic abnormality of 5q- was rarely seen in acute lymphoblastic leukemia.In such cases,the minimal deletion region overlaped between marks of D5S410 and D5S436 corresponding to chromosomal location 5q31-33.Conclusion 5q- is rare in acute lymphoblastic leukemia and more features are still to be found about the kind of disorder.
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ObjectiveTo investigate the expression of CCL2 and its effects on the proliferation and adhesiveness on leukemia cells in patients with acute lymphoblastic leukemia(ALL). MethodsThe bone marrow mesenchymal cells (BMMSC) and bone marrow mononuclear cells (BMMNC) of 30 ALL patients and 30 healthy controls were studied, and CCL2 level was evaluated by ELISA. CCL2 gene mRNA level in ALL was determined by RT-PCR. The cell proliferation and adhesiveness were detected by MTT assays. The cell counts were measured by flow cytometry. ResultsThe BM plasma levels of CCL2 in patients at diagnosis were significantly higher than that in healthy controls [(780.12±129.61) pg/ml vs (120.49±25.21) pg/ml,t =4.96, P =0.00]. Supernatant levels of CCL2 in BMMSC were significantly higher than that of BMMNC [(572.38±35.39) pg/ml vs (193.85±15.45) pg/ml,t =5.37,P =0.00]in vitro.CCL2 cannot induce leukemia proliferation alone,but could induce leukemia proliferation in BMMNC and BMMSC co-culture in a dose- and time-dependent manner.CCL2 could increase the leukemia adhesive to the BMMSC compared with control (r =0.824,P =0.02).ConclusionPatients with B type ALL had higher levels of CCL2 which was secreted by BMMSC. The leukemia could induce the BMMSC to secrete CCL2. CCL2 could promote the survival and proliferation of leukemia in the presence of BMMSC and BMMNC, and enhance ALL cells adhesion toBMMSC in a dose-dependent manner.
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Objective To analyze the diagnostic process of a rare case of acute myeloid leukemia with minimal differentiation undergoing a lineage switch to mixed phenotype acute leukemia, NOS-rare types,and to investigate its difference from other acute myeloid leukemia and mixed phenotype acute leukemia. Methods Following tests were performed on the patient with switched mixed phenotype acute leukemia and three control leukemia patients ( including two acute myeloid leukemia with minimal differentiation and one mixed phenotype acute leukemia ). Cell morphology was analyzed by bone marrow smear and related cell chemical staining. Immunophenotyping of bone marrow was performed by flow cytometry ( FCM ). G-banding technique was used for karyotype analysis and RT-PCR was used for fusion gene detection. All the laboratory data of the switched patient were compared to that of three control patients in order to reveal the characteristics of such a rare phenotype switch in acute leukemia. Results Before switching, the morphology of acute myeloid leukemia with minimal differentiation demonstrated 0.82 blasts occurring in bone marrow, distinct nucleoli and absence of Auer rods. Blast cells expressed hematopoieticassociated antigens ( CD38, HLA-DR ), myeloid antigens ( CD13, CD56, CD11b ) and CD7. And these blasts were negative for MPO, CD33, CD15, CD79, CD19, CD22, cytoplasmic CD3, CD4 and CD8. After switching, 0. 42 blasts were found in bone marrow, showed eosinophilia and presence of basophile. Blast cells expressed hematopoietic-associated antigens ( CD38, HLA-DR ), myeloid antigens ( MPO, CD13 ),lymphoid antigens ( CD19, CD79a ,cytoplasmic CD3, and CD7 ). The control group showed typical morphology and immunophenotyping. No abnormal karyotype and fusion gene were detected. Conclusions It is a rare and complicated case that acute myeloid leukemia with minimal differentiation switched to mixed phenotype acute leukemia, NOS-rare types. The laboratory features, especially the change of immunophenotyping play an important role in the diagnosis.