Micci Francesca, Panagopoulos Ioannis, Haugom Lisbeth, Andersen Hege Kilen, Tjønnfjord Geir E, Beiske Klaus, Heim Sverre
Department of Medical Genetics, The Norwegian Radium Hospital, Rikshospitalet University Hospital, Oslo, Norway.
Cancer Lett. 2009 May 18;277(2):205-11. doi: 10.1016/j.canlet.2008.12.016. Epub 2009 Jan 24.
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.
对少数表现出平衡染色体易位的非典型慢性髓性白血病患者的分析揭示了多种酪氨酸激酶融合基因，最常见的涉及FGFR1、PDGFRA、PDGFRB、JAK2和ABL。我们报告一例非典型慢性髓性白血病患者，其发生3q22;21q22易位，导致受体样酪氨酸激酶（RYK）基因截断，并与21号染色体的序列并列，其中包括编码线粒体ATP合酶的ATP5O基因。然而，产生的融合并不符合读码框，这就是为什么我们推测是失活的RYK基因产物而非嵌合蛋白可能是致白血病的结果。
