t(3;21)(q22;q22) leading to truncation of the RYK gene in atypical chronic myeloid leukemia.
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.
Micci
Francesca
F
Department of Medical Genetics, The Norwegian Radium Hospital, Rikshospitalet University Hospital, Oslo, Norway. francesca.micci@labmed.uio.no
Panagopoulos
Ioannis
I
Haugom
Lisbeth
L
Andersen
Hege Kilen
HK
Tjønnfjord
Geir E
GE
Beiske
Klaus
K
Heim
Sverre
S
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
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