t(5;17)(q33;p13) RABEP1/PDGFRB

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URI:http://hdl.handle.net/2042/66067  |   DOI : 10.4267/2042/66067
Title: t(5;17)(q33;p13) RABEP1/PDGFRB
Author:C., Schroeder, Molly; Shetty, Shashirekha
Abstract: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
Subject:t(5;17)(q33;p13); RABEP1/PDGFRB; Leukaemia Section; Adult; Bone Marrow/metabolism/pathology; Gene Expression; Humans; Karyotype; Leukemia, Myeloid/complications/diagnosis/*genetics/pathology; Male; Middle Aged; Neoplastic Stem Cells/metabolism/*pathology; Precursor Cell Lymphoblastic; Receptor, Platelet-Derived Growth Factor beta/*genetics/metabolism; *Translocation, Genetic; Adult; Antineoplastic Agents/*administration & dosage; Benzamides; Hematopoietic Stem Cell Transplantation; Humans; Imatinib Mesylate; Leukemia, Myelomonocytic, Chronic/*drug therapy/genetics/therapy; Male; Oncogene Proteins, Fusion/*genetics
Publisher:ARMGHM - Atlas Génétique des Cancers

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