title: Identification of the TAF15-ZNF384 fusion gene in two new cases of acute lymphoblastic leukemia with a t(12;17)(p13;q12).
abstract: We report the clinical, cytogenetic, and molecular data of two patients diagnosed with acute lymphoblastic leukemia characterized by the rare translocation t(12;17)(p13;q12). This translocation has been reported in 25 cases and its putative molecular consequence, the formation of a TAF15-ZNF384 fusion gene, in only six cases. We used fluorescence in situ hybridization followed by long-range polymerase chain reaction to find the translocation breakpoints. A fusion between TAF15 and ZNF384 was identified and confirmed by nucleotide sequencing. Our results confirm that the t(12;17)(p13;q12) leading to a TAF15-ZNF384 fusion gene characterizes a specific subgroup of acute lymphoblastic leukemia and suggest that two different breakpoints in TAF15 may be involved. Whether the two variants of the TAF15-ZNF384 fusion that these correspond to are in any way hematologically or prognostically different, is unknown.
authors.affiliation: Section for Cancer Cytogenetics, Institute for Medical Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Norway. k.b.nyquist@medisin.uio.no
authors.forename: Kaja Beate
authors.initials: KB
authors.lastname: Nyquist
authors.forename: Jim
authors.initials: J
authors.lastname: Thorsen
authors.forename: Bernward
authors.initials: B
authors.lastname: Zeller
authors.forename: Alf
authors.initials: A
authors.lastname: Haaland
authors.forename: Gunhild
authors.initials: G
authors.lastname: Trøen
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
authors.forename: Francesca
authors.initials: F
authors.lastname: Micci
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D035381:TATA-Binding Protein Associated Factors / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics*; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D015514:Oncogene Proteins, Fusion; C102041:TAF15 protein, human; D035381:TATA-Binding Protein Associated Factors; D015534:Trans-Activators; C498621:ZNF384 protein, human