OBJECTIVETo retrospectively analyze the immunophenotyping, fusion gene and gene mutation of 30 acute lymphoblastic leukemia (ALL) cases and to investigate the relationship between the analysis results and the clinical therapeutic effect and prognosis.

METHODSThirty All phtients were collected from the First Hospital of Harbin, Institute of Hematology and Oncology Department of Pediatrics from August 2015 to June 2016. According to the classification of FAB standard, 27 cases were B system ALL, 3 cases were T system ALL. All patients were diagnosed by bone marrow cell morphology, immunophenotype, cytogenetics and molecular biology detetions, the differentiation antigens on membrane surface and in cytoplasm of ALL cells, and 43 kinds of fusion gene qualitative screening（BCR-ABL， AML1-ETO, PML-RARα and so on） were qualitative screened and ALL gene mutations（IKZF1, TP53, PAX5, JAK1, JAK2, CRLF2, PHF6, NOTCH1, FBXW7, PTEN）were detected by next generation sequencing(NGS).

RESULTS(1) Among 30 ALL patients, the incidence of B-ALL(90.00%) was higher than that of T-ALL(10.00%). (2) 27 cases of B-ALL expressed CD19, CD22, CD10, CD34 and so on. CD19 and CD22 were the most diagnostic antigens of B-ALL. (3) 3 cases of T-ALL mainly expressed cCD3, CD7, CD10, cTDT and so on; cCD3 and CD7 were the most diagnostic antigens of T-ALL. (4) The quantitative screening of 30 cases of ALL 43 fusion genes found BCR-ABL,TEL-AML1 and E2A-PBX1, MLL-AF6, MLL-AF4, and SIL-TAL1 fusion gene was positive in 1 case each; NGS detection of gane mutations associated with ALL showed that: 3 cases of B-ALL found that TP53 mutation occured 3 casas of B-ALL, TET2 I1762V mutations in 1 cases, 3 patients (2 cases of T-ALL, 1 cases of B-ALL) showed NOTCH1 gene mutation. After a cycle of treatment, the efficacy of adult B-ALL treatment (28.57%) was significantly lower than that of child B-ALL (95.00%), and the survival rate of child B-ALL was significantly better than that of adult B-ALL until July 10, 2017, and the differences were significant.

CONCLUSIONThe immunophenotype technology of leukemia and molecular biology has an important guiding role in the diagnosis of leukemia, selection of treatment plan and evaluation of curative effect, and it is the complement of bone marrow cell morphology diagnosis.