title: t(3;21)(q22;q22) leading to truncation of the RYK gene in atypical chronic myeloid leukemia.
abstract: The analysis of a small number of patients with atypical chronic myeloid leukemia showing balanced chromosomal translocations has revealed diverse tyrosine kinase fusion genes, most commonly involving FGFR1, PDGFRA, PDGFRB, JAK2, and ABL. We present a case of aCML with a 3q22;21q22-translocation that led to truncation of the receptor-like tyrosine kinase (RYK) gene and its juxtaposition with sequences from chromosome 21 including the ATP5O gene coding for a mitochondrial ATP synthase. The resulting fusion was not in frame, however, which is why we speculate that an abrogated RYK gene product rather than a chimeric protein might be the leukemogenic result.
authors.affiliation: Department of Medical Genetics, The Norwegian Radium Hospital, Rikshospitalet University Hospital, Oslo, Norway. francesca.micci@labmed.uio.no
authors.forename: Francesca
authors.initials: F
authors.lastname: Micci
authors.forename: Ioannis
authors.initials: I
authors.lastname: Panagopoulos
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Haugom
authors.forename: Hege Kilen
authors.initials: HK
authors.lastname: Andersen
authors.forename: Geir E
authors.initials: GE
authors.lastname: Tjønnfjord
authors.forename: Klaus
authors.initials: K
authors.lastname: Beiske
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D006801:Humans; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D025261:Mitochondrial Proton-Translocating ATPases; D050596:Oncogene Fusion; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; C080836:RYK protein, human; D020794:Receptor Protein-Tyrosine Kinases; D000251:Adenosine Triphosphatases; D025261:Mitochondrial Proton-Translocating ATPases; C020439:oligomycin sensitivity-conferring protein