Objective: To explore the contribution of cytochrome P450 (CYP) 1A1z.ast;2C polymorphism to susceptibility to acute lymphoblastic leukemia (ALL) in children. Methods: The case-control studies involving the association of CYP1A1z.ast;2C polymorphism with the susceptibility to childhood ALL were retrieved through computer-based search in PubMed, Embase, Ovid, China Journal Full-text Database, Chinese Biomedical Literature Data, China National Knowledge Infrastructure and Wanfang Database. The statistical analysis was performed by STATA 12.0 software. Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated, and the subgroup ananlysis, sensitivity analysis and publication bias were also carried out. Results: A total of seven eligible case-control studies were included for analysis. The Meta analysis revealed that there was a significant association of CYP1A1z.ast;2C ploymorphism with risk of childhood ALL (C vs A: OR = 1.20, 95% CI: 1.01-1.43; GG vs AA: OR = 1.73, 95% CI: 1.1 1-2.70; GG vs AG + AA: OR = 1.68, 95% CI: 1.09-2.59). In a subgroup in which the controls were hospitalized in the same period as the cases hospitalized, there was also a significant association of CYP1A1z.ast;2C ploymorphism with risk of childhood ALL (G vs A: OR = 1.29, 95% CI: 1.04-1.59; GG vs AA: OR = 1.89, 95% CI: 1.15-3.10; GG vs AG+AA: OR = 1.83, 95% CI: 1.14-2.94). After excluding a study with high heterogeneity, the sensitivity analysis showed no significant association between CKP1A1z.ast;2C ploymorphism and childhood ALL. Conclusion: The results of this Meta analysis suggest that CYP1A1z.ast;2C polymorphism may be not significantly associated with the susceptibility to childhood ALL.

OBJECTIVETo explore the association between CYP1A1*2A polymorphism and susceptibility to childhood acute lymphoblastic leukemia (ALL) through a Meta analysis.

METHODSInclusion and exclusion criteria were formulated and English and Chinese databases (PubMed, OVID Database, CBM, CNKI, and Wanfang Data) were searched comprehensively. The studies (from January 1999 to April 2015) related to the association between CYP1A1*2A polymorphism and susceptibility to childhood ALL were collected. STATA 12.0 Software was applied to perform the Meta analysis for the articles included.

RESULTSA total of 12 articles were included for analysis (11 English articles and 1 Chinese article), which involved 3 355 cases in total. The results of the Meta analysis showed a significant association between CYP1A1*2A polymorphism and susceptibility to childhood ALL (allele model: OR=1.31, 95% CI: 1.07-1.61; dominant model: OR=1.33, 95% CI: 1.13-1.56; codominant model: OR=1.30, 95% CI: 1.10-1.54). According to the results of a subgroup analysis based on ethnic origin, an increased risk of childhood ALL was observed in both Asian subgroup (dominant model: OR=1.57, 95% CI: 1.19-2.08; codominant model: OR=1.61, 95% CI: 1.20-2.17) and the Caucasian subgroup (allele model: OR=1.31, 95% CI: 1.04-1.63; dominant model: OR=1.22, 95% CI: 1.00-1.49).

CONCLUSIONSCYP1A1*2A polymorphism may be associated with the genetic susceptibility to childhood ALL.

Cytochrome P-450 CYP1A1 ; genetics ; Genetic Predisposition to Disease ; Humans ; Polymorphism, Genetic ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; genetics

OBJECTIVETo evaluate the technique and significance of mastoscopic axillary sentinel lymph node biopsy.

METHODSSixty-two patients with breast cancer use methylene blue to test axillary sentinel lymph node. Sentinel lymph node was moved with endoscopy, and endoscopic axillary lymph nod dissection was performed. Pathological examination of sentinel lymph node and axillary lymph node was made with HE. To evaluate detection rate and false negative rate in sentinel lymph node.

RESULTSAmong the 62 patients, 61 were confirmed by endoscopic axillary sentinel lymph nod biopsy. Detection rate was 98.4%. Thirty-five cases were no metastasis, 27 cases were metastasis, false negative rate was 0.

CONCLUSIONSMastoscopic axillary sentinel lymph node biopsy has a high detection rate, good efficiency of cosmetic and lower complications. It has higher sensitivity than traditional axillary lymph nod dissection and provide accurate lymph node stages.

Adult ; Aged ; Breast Neoplasms ; pathology ; Endoscopy ; methods ; Female ; Humans ; Lymphatic Metastasis ; diagnosis ; Middle Aged ; Sensitivity and Specificity ; Sentinel Lymph Node Biopsy ; methods

Objective: To investigate the genetic and genomic profiling of juvenile myelomonocytic leukemia (JMML) and factors affecting its survival rate. Methods: Clinical characteristics, cytogenetics, molecular biology results and survival status of children with 27 JMML cases admitted to the Hematology Department of Children's Hospital, Capital Institute of Pediatrics from December 2012 to December 2021 were analyzed retrospectively, and the outcomes of the children were followed up. Kaplan-Meier method was used for survival analysis. Univariate analysis was used for analyzing factors affecting the overall survival (OS) rates of patients who received hematopoietic stem cell transplantation (HSCT). Log-Rank test was used for comparison of survival curves. Results: Among 27 JMML cases, there were 11 males and 16 females. The age of disease onset was 28 (11,52) months. There are 20 cases of normal karyotype, 4 cases of monosomy 7, 1 case of trisomy 8,1 case of 11q23 rearrangement and 1 case of complex karyotype. A total of 39 somatic mutations were detected.Those involved in RAS signal pathway were the highest (64%(25/39)), among which PTPN11 mutation was the most frequent (44% (11/25)). A total of 17 cases (63%) received HSCT, 8 cases (30%) did not receive HSCT, and 2 cases (7%) lost follow-up. For children receiving transplantation, the follow-up time after transplantation was 47 (11,57) months. The 1-year OS rate of high-risk transplantation group (17 cases) and high-risk non transplantation group (6 cases) was (88±8)% and (50±20)% respectively, with a statistically significant difference (χ²=5.01, P=0.025). The 5-year OS rate of the high-risk transplantation group was (75±11)%. The survival time of those who relapsed or progressed to acute myeloid leukemia after transplantation was significantly shorter than that of those who did not relapse (χ²=6.80, P=0.009). The OS rate of patients with or without PTPN11 mutation was (81±12) % and (67±19)% respectively (χ²=0.85, P=0.356). Conclusions: The main pathogenesis involved in JMML is gene mutation related to RAS signaling pathway, and the most common driver gene of mutation is PTPN11. Allogeneic HSCT can significantly improve the survival rate of high-risk JMML patients. The recurrence or progression after transplantation was related to poor prognosis.
Male ; Female ; Child ; Humans ; Child, Preschool ; Leukemia, Myelomonocytic, Juvenile/therapy* ; Retrospective Studies ; Survival Analysis ; Mutation ; Hematopoietic Stem Cell Transplantation