title: [A combined assay of multiplex RT-PCR and karyotypic analysis in childhood acute lymphoblastic leukemia].
abstract: OBJECTIVE
  To study the value of combination assay of multiplex RT-PCR and karyotypic analysis in the diagnosis and classification of childhood acute lymphoblastic leukemia (ALL).
  
  
  METHODS
  Fifty cases of childhood ALL patients were studied by multiplex RT-PCR in combination with R or G banding karyotype analysis.
  
  
  RESULTS
  Of the 50 childhood ALL patients, 18 (36.0%) carried 11 types of fusion genes including E2A/PBX1, TEL/AML1, TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX, MLL/AF6, MLL/ELL, TAL1D, and HOX11, revealed by multiplex RT-PCR, and in 48 cases, 24 (57.1%) had chromosome abnormalities. Among the latter, numeral chromosome abnormalities and chromosome deletions accounted for 75.0% (18/24), while translocations 25.0% (6/24). The multiplex RT-PCR in combination with chromosome analysis could detect genetic abnormalities in 70% (35/50) of childhood ALL.
  
  
  CONCLUSIONS
  Multiplex RT-PCR combined with chromosome analysis can enhance the detection rate of genetic abnormalities in childhood ALL. It provides reliable evidence for the diagnosis, classification and prognosis.
authors.affiliation: Affiliated Childhood Hospital of Soochow University, Suzhou 215003, China.
authors.forename: Jun
authors.initials: J
authors.lastname: He
authors.forename: Yong-quan
authors.initials: YQ
authors.lastname: Xue
authors.forename: Jian-qin
authors.initials: JQ
authors.lastname: Li
authors.forename: Hai-long
authors.initials: HL
authors.lastname: He
authors.forename: Ya-xiang
authors.initials: YX
authors.lastname: He
authors.forename: Yi-ping
authors.initials: YP
authors.lastname: Huang
authors.forename: Yi-huan
authors.initials: YH
authors.lastname: Chai
authors.forename: Ling-li
authors.initials: LL
authors.lastname: Zhu
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D015203:Reproducibility of Results; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D012680:Sensitivity and Specificity
chemical_list: D015514:Oncogene Proteins, Fusion