title: [Classical and molecular cytogenetic abnormalities in 124 pediatric patients with acute lymphoblastic leukemia].
abstract: OBJECTIVE
  In childhood acute lymphoblastic leukemia (ALL), cytogenetics plays an important role in diagnosis, allocation of treatment and prognosis. On the basis of the conventional cytogenetic analysis, molecular methods have improved pediatric hematologists/oncologist's ability to accurately and rapidly perform risk-stratification on patients with childhood ALL during the last few years. The aim of the present study was to assess the demography of cytogenetic abnormalities in childhood ALL.
  
  
  METHODS
  The study subjects consisted of 124 newly diagnosed ALL patients younger than 16 years of age, who were diagnosed at the Department of Pediatric Hematology/Oncology, Soochow University Children's Hospital. The diagnosis and FAB subtypes of ALL was determined by Wright-Giemsa-stained bone marrow smears and cytochemical staining. Immunophenotyping of the bone marrow samples was performed by flow cytometry. Multiplex polymerase chain reaction (Multiplex PCR) analysis was performed to detect the 29 most common leukemia translocations for routine molecular diagnostic hematopathology practice, and complement the information gained from conventional cytogenetic analysis.
  
  
  RESULTS
  Cytogenetic analysis was successful in 112 of 124 children with ALL. Sixty-eight (60%) of them had clonal chromosomal abnormalities. Numerical imbalances consisted of hyperdiploid (> 47 chromosomes, 36 cases), hypodiploid (< 46 chromosomes, 14 cases), pseudodiploidy (18 cases). Chromosomal translocations were observed in 13 patients by conventional cytogenetic analysis. Three cases were found positive for 4; 11 translocation, 3 cases for 9; 22 translocation, 1 case for 1; 19 translocation and 6 cases for other rare translocations. Multiplex-PCR analysis detected 116 of the 124 ALL patients. Thirteen cases of TEL-AML1, 10 cases of rearrangement in the MLL gene, 4 cases of E2A-PBX1, 4 cases of E2A-HLF, 3 cases of BCR-ABL, 2 cases of TLS-ERG, 32 cases of HOX11 were detected by Multiplex PCR in B-lineage leukemias. SIL-TAL1 had been found in 4 of 7 of T-lineage leukemias.
  
  
  CONCLUSIONS
  Sixty-eight cases of ALL showed chromosomal aberrations. Multiplex PCR positivity was detected in 59 (50%) of the 116 ALL patients studied. Multiplex PCR combined with chromosomal analysis uncovered chromosomal abnormalities in 95 of 124 (77%) of ALL patients and supplemented each other in detecting chromosomal abnormalities.
authors.affiliation: Department of Pediatric Hematology/Oncology, Soochow University Children's Hospital, Suzhou 215003, China.
authors.forename: Yi-huan
authors.initials: YH
authors.lastname: Chai
authors.forename: Hui
authors.initials: H
authors.lastname: Lü
authors.forename: Jian-qin
authors.initials: JQ
authors.lastname: Li
authors.forename: Jun
authors.initials: J
authors.lastname: Lu
authors.forename: Pei-fang
authors.initials: PF
authors.lastname: Xiao
authors.forename: Ya-xiang
authors.initials: YX
authors.lastname: He
authors.forename: Xue-jun
authors.initials: XJ
authors.lastname: Shao
mesh_terms: D000293:Adolescent; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D020732:Cytogenetic Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D050939:Gene Fusion / Q000235:genetics; D018398:Homeodomain Proteins; D006801:Humans; D016130:Immunophenotyping / Q000379:methods; D007223:Infant; D007621:Karyotyping; D008297:Male; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D016133:Polymerase Chain Reaction; D000075062:Pre-B-Cell Leukemia Transcription Factor 1; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D000073942:T-Cell Acute Lymphocytic Leukemia Protein 1; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D016044:Fusion Proteins, bcr-abl; D018398:Homeodomain Proteins; D051788:Myeloid-Lymphoid Leukemia Protein; D015514:Oncogene Proteins, Fusion; D000075062:Pre-B-Cell Leukemia Transcription Factor 1; D011518:Proto-Oncogene Proteins; D000073942:T-Cell Acute Lymphocytic Leukemia Protein 1; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein; C083400:PBX1 protein, human; C067143:TAL1 protein, human