t(5;12)(q33;p13) ETV6/PDGFRB

1998-01-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


myeloide lineage

Phenotype stem cell origin

myeloproliferative/myelodysplastic syndrome(intermediate between CML and CMML) with eosinophilia; appear to be aspecific entity


rarely described; mostly in adult male patients (13 of 14 cases herein reviewed)


organomegaly in 9 of 12 cases; blood data: median WBC: 40 X 109/l;numerous eosinophils: median 2.8 X 109/l, range 0.8-128 X 109/l, n=9(normal range is 0.02-0.45 X 109/l), and, at times, of monocytes; no blastcells


hydroxyurea alone or polychemotherapy have been essayed


yet partly undetermined; median survival < 20 mths (n= 11)

Genes Involved and Proteins

Gene name
PDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Protein description
PDGFRB is the receptor for PDGFB (platelet-derivedcontains a Helix-Loop-Helix and ETS DNA bindingdomains; wide expression; nuclear localisation; ETS-related transcription
Gene name
ETV6 (ets variant 6)
Dna rna description
9 exons; alternate splicing
Protein description

Result of the Chromosomal Anomaly


5 ETV6 - 3 PDGFRBN-term HLH domain of ETV6 fused to the transmembrane domain andthe Tyr kinase domain of PDGFRb in C-term; the reciprocal transcript isnot expressed


Pubmed IDLast YearTitleAuthors
81681371994Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation.Golub TR et al
86893431996Myelodysplastic syndrome with t(5;12)(q31;p12-p13) and eosinophilia: a pediatric case with review of literature.Pellier I et al
77425471995TEL gene is involved in myelodysplastic syndromes with either the typical t(5;12)(q33;p13) translocation or its variant t(10;12)(q24;p13).Wlodarska I et al


Fusion gene

ETV6/PDGFRB ETV6 (12p13.2) PDGFRB (5q32) M t(5;12)(q32;p13)|ETV6/PDGFRB ETV6 (12p13.2) PDGFRB (5q32) TIC


this translocation must not be confused with the t(5;12)(q31;p13)found in an ALL cell line with IL3 and ETV6 involvements
Atlas Image
t(5;12)(q33;p13) G- banding (left) and R- banding (right) - Courtesy Franck Viguié


Jean-Loup Huret

t(5;12)(q33;p13) ETV6/PDGFRB

Atlas Genet Cytogenet Oncol Haematol. 1998-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1012/t(5;12)(q33;p13)-etv6-pdgfrb

External Links