Myeloproliferative Disorders with Translocations of Chromosome 5q31–35: Role of the Platelet-Derived Growth Factor Receptor BetaSteer E.J. · Cross N.C.P.
Wessex Regional Genetics Laboratory, Salisbury, andHuman Genetics Division, University of Southampton School of Medicine, Southampton, UK
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.
Prof. N.C.P. Cross
Wessex Regional Genetics Laboratory
Salisbury District Hospital
Salisbury SP2 8BJ (UK)
Tel. +44 1722 429080, Fax +44 1722 338095, E-Mail email@example.com
Number of Print Pages : 10
Number of Figures : 1, Number of Tables : 3, Number of References : 77
Affiliated with Molecular Biology of Hematopoiesis Symposium
Vol. 107, No. 2, Year 2002 (Cover Date: Released March 2002)
Journal Editor: I. Ben-Bassat, Tel Hashomer
ISSN: 0001–5792 (print), 1421–9662 (Online)
For additional information: http://www.karger.com/journals/aha