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

Highly cited references

Pubmed IDYearTitleCitations
121814022002Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta.99
224320872012Platelet-derived growth factors and their receptors in normal and malignant hematopoiesis.35
191756932009Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.22
196441402009The fusion proteins TEL-PDGFRbeta and FIP1L1-PDGFRalpha escape ubiquitination and degradation.20
222718942012ETV6-PDGFRB and FIP1L1-PDGFRA stimulate human hematopoietic progenitor cell proliferation and differentiation into eosinophils: the role of nuclear factor-κB.15
212338372011Characterization of NPM1-mutated AML with a history of myelodysplastic syndromes or myeloproliferative neoplasms.11
111738302000Fusion genes in leukemia: an emerging network.9
173253412007The identification of (ETV6)/RUNX1-regulated genes in lymphopoiesis using histone deacetylase inhibitors in ETV6/RUNX1-positive lymphoid leukemic cells.6
90576551997A new subtype of pre-B acute lymphoblastic leukemia with t(5;12)(q31q33;p12), molecularly and cytogenetically distinct from t(5;12) in chronic myelomonocytic leukemia.6
225717582012De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics.5
175080042007A novel ETV6-PDGFRB fusion transcript missed by standard screening in a patient with an imatinib responsive chronic myeloproliferative disease.5
146716122003Effective treatment of hypereosinophilic syndrome with imatinib mesylate.4
289541052017Episodic angioedema associated with eosinophilia.3
175749672007Molecular cytogenetic findings in a four-way t(1;12;5;12)(p36;p13;q33;q24) underlying the ETV6-PDGFRB fusion gene in chronic myelomonocytic leukemia.3
316456802020The incidence, genetic characteristics, and prognosis of leukemia with concurrent pathogenic fusion genes: a series of 25 cases from a large cohort of leukemia patients.2
208068172010[ABL1, SRC and other non-receptor protein tyrosine kinases as new targets for specific anticancer therapy].2
299928582019Cryptic ETV6-PDGFRB fusion in a highly complex rearrangement of chromosomes 1, 5, and 12 due to a chromothripsis-like event in a myelodysplastic syndrome/myeloproliferative neoplasm.1
277468192016Myeloid Neoplasms with t(5;12) and ETV6-ACSL6 Gene Fusion, Potential Mimickers of Myeloid Neoplasm with PDGFRB Rearrangement: Case Report with Imatinib Therapy and Review of the Literature.1
213508312011Therapy-related myeloproliferative neoplasm with ETV6-PDGFRB rearrangement following treatment of acute promyelocytic leukemia.1
150369442004A 2-year-old with atypical CML with a t(5;12)(q33;p13) treated successfully with imatinib mesylate.1
349793552022t(5;12)(q31;p13)/ETV6::ACSL6 and t(6;9)(p23;q34)/DEK::NUP214 concurrence in acute myeloid leukemia: an unusual association of two rare abnormalities.0
323860292020Myeloid neoplasm with the abnormality of PDGFRB gene secondary interstitial pneumonia: A case report.0
308353572019[Characteristics of a patient with myeloid neoplasm and co-existence of t(7;11)(p15;p15) and t(5;12)(q33;p13) translocations].0
284850702018Molecular monitoring of patients with ETV6-PDGFRB rearrangement: Implications for therapeutic adaptation.0
258340962014[The hematological malignancies related to primary hypereosinophilia and their diagnostics].0
191470892009Oncogenic signals as treatment targets in classic myeloproliferative neoplasms.0


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)