title: Molecular detection of TEL-AML1 transcripts as a diagnostic tool and for monitoring of minimal residual disease in B-lineage childhood acute lymphoblastic leukemia.
abstract: The chromosomal translocation t(12;21) (p12;q22) which results in the TEL-AML1 fusion gene is the most frequent genetic rearrangement in childhood B-lineage acute lymphoblastic leukemia (ALL). The rearrangement in this locus, however, is only rarely observed by routine karyotypic analysis. We established a nested-reverse transcriptase-polymerase chain reaction (nested-RT-PCR) technique for the detection of the TEL-AML1 transcript, and used this to investigate the incidence of the rearrangement, and to characterize the disease present in TEL-AML1-positive B-lineage ALL patients. The TEL-AML1 fusion transcript was detected in nine of fourteen patients. These patients were relatively homogeneous in that they were young and had low presenting leukocyte counts, both features of which are associated with a favorable prognosis. Furthermore, we could detect the TEL-AML1 transcript in the peripheral blood of t(12;21)-positive patients and we used this to assess minimal residual disease (MRD) in patients during chemotherapy. The data demonstrate that nested-RT-PCR is a suitable tool for diagnosing t(12;21)-positive ALL, that these patients constitute a clinically distinct subgroup of ALL patients, and that the method could also be used to monitor MRD in these patients.
authors.affiliation: Department of Pediatrics, Chungbuk National University College of Medicine, Cheongju, Korea.
authors.forename: H J
authors.initials: HJ
authors.lastname: Park
authors.forename: K E
authors.initials: KE
authors.lastname: Lee
authors.forename: J M
authors.initials: JM
authors.lastname: Um
authors.forename: S Y
authors.initials: SY
authors.lastname: Choe
authors.forename: X Z
authors.initials: XZ
authors.lastname: Chi
authors.forename: J A
authors.initials: JA
authors.lastname: Lee
authors.forename: H Y
authors.initials: HY
authors.lastname: Shin
authors.forename: H S
authors.initials: HS
authors.lastname: Ahn
authors.forename: S C
authors.initials: SC
authors.lastname: Bae
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D050676:Core Binding Factor Alpha 2 Subunit; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007621:Karyotyping; D015448:Leukemia, B-Cell / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D018365:Neoplasm, Residual / Q000175:diagnosis / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000235:genetics*; D012334:RNA, Neoplasm / Q000032:analysis / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D016019:Survival Analysis; D014158:Transcription, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; D012334:RNA, Neoplasm; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein