Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor Beta

Acquired reciprocal chromosomal translocations that involve chromosome bands 5q31-33 are associated with a significant minority of patients with BCR-ABL-negative chronic myeloid leukemias. The most common abnormality is the t(5;12)(q33;p13), which fuses the ETV6/TEL gene to the platelet-derived growth factor receptor-beta (PDGFRB), a receptor tyrosine kinase that maps to 5q33. PDGFRB is disrupted by other translocations and to date four additional partner genes (H4, HIP1, CEV14 and Rab5) have been reported. Clinically, most patients present with a myeloproliferative disorder (MPD) with eosinophilia, eosinophilic leukemia or chronic myelomonocytic leukemia and thus fall into the broader category of myeloproliferative disorders/myelodysplastic syndromes (MPD/MDS). With the advent of targeted signal transduction therapy, patients with rearrangement of PDGFRB might be better classified as a distinct subgroup of MPD/MDS

genetics, myelodysplastic syndromes, chromosomes, myeloproliferative disorders, patients, humans, review, laboratories, eosinophilia, tyrosine, translocation, platelet-derived growth factor, genetic, growth, research support, etiology, non-u.s.gov't, genes, therapy, leukemia, platelet-derived growth factor beta, role, pair 5, signal transduction, receptor, human, syndrome, diagnosis, abnormalities, pair 12

10.1159/000068099

0001-5792

113-122

Steer, E.J.

72d16c6e-56ba-4a02-9f00-8eaf486c96a7

Cross, N.C.

f87650da-b908-4a34-b31b-d62c5f186fe4

2002

Steer, E.J.

72d16c6e-56ba-4a02-9f00-8eaf486c96a7

Cross, N.C.

f87650da-b908-4a34-b31b-d62c5f186fe4

Steer, E.J. and Cross, N.C. (2002) Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor Beta. Acta Haematologica, 107 (2), 113-122. (doi:10.1159/000068099).

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Published date: 2002

Keywords: genetics, myelodysplastic syndromes, chromosomes, myeloproliferative disorders, patients, humans, review, laboratories, eosinophilia, tyrosine, translocation, platelet-derived growth factor, genetic, growth, research support, etiology, non-u.s.gov't, genes, therapy, leukemia, platelet-derived growth factor beta, role, pair 5, signal transduction, receptor, human, syndrome, diagnosis, abnormalities, pair 12

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