title: PAX5/ETV6 fusion defines cytogenetic entity dic(9;12)(p13;p13).
abstract: Recurrent chromosomal abnormalities present in malignant cells often define subentities with unique biological and clinical features. The molecular identification of genes involved in genetic alterations has led to the characterization of fusion genes with neoplastic properties. However, for many nonrandom translocations including the dic(9;12)(p11-13;p11-12), the molecular equivalent has not as yet been identified. The dicentric translocation dic(9;12) is a recurrent chromosome abnormality that accounts for close to 1% of childhood acute lymphoblastic leukemia (ALL). This specific alteration occurs almost exclusively in B-progenitor ALL, and unlike many other nonrandom translocations, is associated with an excellent prognosis. In this work, we provide strong evidence that the PAX5/ETV6 fusion transcript defines the clinical and biological entity that is associated with the presence of a dic(9;12) chromosome. As the PAX5 and ETV6 genes are localized at 9p13 and 12p13, respectively, the cytogenetic description of the dic(9;12)-PAX5/ETV6 rearrangement should be refined to dic(9;12)(p13;p13).
authors.affiliation: 1CCRI, Children's Cancer Research Institute, St Anna Kinderspital, Kinderspitalgasse 6, A-1090 Vienna, Austria.
authors.forename: S
authors.initials: S
authors.lastname: Strehl
authors.forename: M
authors.initials: M
authors.lastname: König
authors.forename: M N
authors.initials: MN
authors.lastname: Dworzak
authors.forename: K
authors.initials: K
authors.lastname: Kalwak
authors.forename: O A
authors.initials: OA
authors.lastname: Haas
mesh_terms: D000293:Adolescent; D015703:Antigens, CD / Q000378:metabolism; D019677:Artificial Gene Fusion; D001402:B-Lymphocytes / Q000473:pathology; D002051:Burkitt Lymphoma / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D002899:Chromosomes, Human, Pair 9; D017931:DNA Primers / Q000737:chemistry; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D051757:PAX5 Transcription Factor; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D050783:Proto-Oncogene Proteins c-ets; D012334:RNA, Neoplasm / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D012097:Repressor Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D015703:Antigens, CD; D017931:DNA Primers; D004268:DNA-Binding Proteins; D051757:PAX5 Transcription Factor; D050783:Proto-Oncogene Proteins c-ets; D012334:RNA, Neoplasm; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein; C497281:PAX5 protein, human