t(3;21)(q22;q22) leading to truncation of the RYK gene in atypical chronic myeloid leukemia |
| |
| Authors: | Francesca Micci Ioannis Panagopoulos Lisbeth Haugom Hege Kilen Andersen Geir E Tjønnfjord Klaus Beiske Sverre Heim |
| |
| Institution: | 1. Department of Medical Genetics, The Norwegian Radium Hospital, Rikshospitalet University Hospital, Oslo, Norway;2. Department of Clinical Genetics, University Hospital, Lund, Sweden;3. Medical Department, Division of Hematology, Rikshospitalet University Hospital, Oslo, Norway;4. Faculty of Medicine, University of Oslo, Oslo, Norway;5. Department of Pathology, Rikshospitalet University Hospital, Oslo, Norway |
| |
| 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. |
| |
| Keywords: | Fusion gene Karyotyping RYK ATP5O aCML |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
