1.The Center for Human Genetics Laboratory, University Hospitals, Cleveland, Ohio, USA Molly.Schroeder@alumni.bcm.edu; Robert J. Tomisch Pathology, Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA. firstname.lastname@example.org.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
The t(5;17)(q33;p13) rearrangement has been observed as sole cytogenetic abnormality in one case of chronic myelomonocytic leukemia, a soft-tissue aneurysmal bone cyst, and a case of myeloid and lymphoid neoplasms (MLNs) with eosinophilia. Rare occurrence of lymphoid and mixed MLNs with abnormalities of PDGFRB has been reported in two cases. The t(5;17)(q33;p13) generates a fusion gene, located on the rearranged chromosome 5, comprised of the 5 portion of RABEP1 (encoding the coiled-coil domain) and the 3 portion of PDGFRB (encoding the intracellular kinase domain). Expression of the resulting fusion protein has been demonstrated to cause myeloproliferative disease in mice.
Molly C. Schroeder ; Molly C. Schroeder
Atlas Genet Cytogenet Oncol Haematol. 2015-07-01
Online version: http://atlasgeneticsoncology.org/haematological/1328/t(5;17)(q33;p13)-rabep1-pdgfrb
2008-10-01 t(5;17)(q33;p13) RABEP1/PDGFRB by Jean-Loup Huret