title: AML-1 gene rearrangement and AML-1-ETO gene expression as molecular markers of acute myeloblastic leukemia with t(8;21).
abstract: Rearrangements of the AML-1 gene on chromosome 21 as well as transcriptional expression of AML-1-ETO fusion gene were studied in 35 leukemic patients with t(8;21)(q22;q22). A panel of probes generated from the AML-1 gene regions flanking the breakpoint on chromosome 21 allowed us to detect the rearrangement in 24 out of 29 patients. A specific nested reverse transcriptase/polymerase chain reaction (RT/PCR) was developed to detect the t(8;21), either at diagnosis or as minimal residual disease. PCR amplification products were obtained in ten out of 11 patients investigated, and the sensitivity of the reaction was estimated to be between 1 x 10(4) and 1 x 10(-5) cell. An AML-1 rearrangement was also detected in one patient with 8q- and only one chromosome 21, but without 21q+. This indicated that the molecular rearrangement of the der(8) chromosome is more important than the reciprocal one in the malignant process.
authors.affiliation: Laboratory of Molecular Biology, Shanghai Institute of Hematology, Shanghai Ruj-Jin Hospital, Shanghai Second Medical University, China.
authors.forename: T
authors.initials: T
authors.lastname: Zhang
authors.forename: J
authors.initials: J
authors.lastname: Hillion
authors.forename: J H
authors.initials: JH
authors.lastname: Tong
authors.forename: Q
authors.initials: Q
authors.lastname: Cao
authors.forename: S J
authors.initials: SJ
authors.lastname: Chen
authors.forename: R
authors.initials: R
authors.lastname: Berger
authors.forename: Z
authors.initials: Z
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D003001:Cloning, Molecular; D005260:Female; D015870:Gene Expression; D015321:Gene Rearrangement; D005819:Genetic Markers; D006801:Humans; D007438:Introns; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012334:RNA, Neoplasm / Q000032:analysis; D012194:RNA-Directed DNA Polymerase; D014158:Transcription, Genetic; D014178:Translocation, Genetic
chemical_list: D014408:Biomarkers, Tumor; D005819:Genetic Markers; D012334:RNA, Neoplasm; D012194:RNA-Directed DNA Polymerase