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Myeloproliferative Disorders with Translocations of Chromosome 5q31–35: Role of the Platelet-Derived Growth Factor Receptor Beta

Steer E.J. · Cross N.C.P.
Wessex Regional Genetics Laboratory, Salisbury, andHuman Genetics Division, University of Southampton School of Medicine, Southampton, UK Acta Haematol 2002;107:113–122 (DOI:10.1159/000046641)


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-β (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.


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