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.
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