title: A novel TCF3-HLF fusion transcript in acute lymphoblastic leukemia with a t(17;19)(q22;p13).
abstract: A 10-year-old boy was admitted to the hospital because of anemia detected after a two week history of fatigue, dizziness, nausea, headaches, and weight loss. A bone marrow investigation confirmed a diagnosis of acute lymphoblastic leukemia of the B-cell precursor phenotype. Chromosome G-banding analysis yielded the karyotype 46,XY,t(17;19)(q22;p13), and fluorescence in situ hybridization (FISH) analysis showed rearrangement of the genes TCF3 (on 19p13; accession number NM_03200 version 3) and HLF (on 17q22; accession number NM_002126 version 4) with the generation of a TCF3-HLF chimera. Polymerase chain reaction and sequencing analyses demonstrated the presence of two in-frame chimeric TCF3-HLF transcripts. In the first one, which corresponds to a type 2 fusion, exon 15 of TCF3 is fused to exon 4 of HLF. In the second, described here for the first time and named type 3, exon 14 of TCF3 is fused to exon 4 of HLF. Whether the type 3 chimeric transcript has the same DNA binding and transcriptional regulatory effect as type 1 and type 2 TCF3-HLF chimeras remains to be seen.
authors.affiliation: Section for Cancer Cytogenetics, Institute for Medical Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. ioannis.panagopoulos@rr-research.no
authors.forename: Ioannis
authors.initials: I
authors.lastname: Panagopoulos
authors.forename: Francesca
authors.initials: F
authors.lastname: Micci
authors.forename: Jim
authors.initials: J
authors.lastname: Thorsen
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Haugom
authors.forename: Anne
authors.initials: A
authors.lastname: Tierens
authors.forename: Aina
authors.initials: A
authors.lastname: Ulvmoen
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
mesh_terms: D001483:Base Sequence; D002648:Child; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008969:Molecular Sequence Data; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; C578540:TCF3-HLF fusion protein, human