t(5;12)(q33;p13) ETV6/PDGFRB
1998-01-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
myeloide lineage
Phenotype stem cell origin
myeloproliferative/myelodysplastic syndrome(intermediate between CML and CMML) with eosinophilia; appear to be aspecific entity
Epidemiology
rarely described; mostly in adult male patients (13 of 14 cases herein reviewed)
Clinics
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
Treatment
hydroxyurea alone or polychemotherapy have been essayed
Prognosis
yet partly undetermined; median survival < 20 mths (n= 11)
Genes Involved and Proteins
Gene name
PDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Location
5q32
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)
Location
12p13.2
Dna rna description
9 exons; alternate splicing
Protein description
factor
Result of the Chromosomal Anomaly
Description
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 ID | Year | Title | Citations |
|---|---|---|---|
| 19175693 | 2009 | Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. | 313 |
| 22432087 | 2012 | Platelet-derived growth factors and their receptors in normal and malignant hematopoiesis. | 95 |
| 19644140 | 2009 | The fusion proteins TEL-PDGFRbeta and FIP1L1-PDGFRalpha escape ubiquitination and degradation. | 51 |
| 22271894 | 2012 | ETV6-PDGFRB and FIP1L1-PDGFRA stimulate human hematopoietic progenitor cell proliferation and differentiation into eosinophils: the role of nuclear factor-κB. | 48 |
| 38026242 | 2023 | Myeloid/Lymphoid Neoplasms with ETV6::PDGFRB Fusion Gene: A Rare Case of Poor Response to Imatinib and Possible Transformation Mechanisms from Myeloid Neoplasms of Bone Marrow to T-Cell Lymphoblastic Lymphoma Invasion in Lymph Nodes. | 26 |
| 27746819 | 2016 | Myeloid 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. | 19 |
| 28954105 | 2017 | Episodic angioedema associated with eosinophilia. | 8 |
| 28485070 | 2018 | Molecular monitoring of patients with ETV6-PDGFRB rearrangement: Implications for therapeutic adaptation. | 0 |
| 36069745 | 2022 | Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features. | 0 |
| 11173830 | 2000 | Fusion genes in leukemia: an emerging network. | 0 |
| 29992858 | 2019 | Cryptic 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. | 0 |
| 19147089 | 2009 | Oncogenic signals as treatment targets in classic myeloproliferative neoplasms. | 0 |
| 37550570 | 2023 | A novel subclonal rearrangement of the STRN3::PDGFRB gene in de novo acute myeloid leukemia with NPM1 mutation and its leukemogenic effects. | 0 |
| 25834096 | 2014 | [The hematological malignancies related to primary hypereosinophilia and their diagnostics]. | 0 |
| 21350831 | 2011 | Therapy-related myeloproliferative neoplasm with ETV6-PDGFRB rearrangement following treatment of acute promyelocytic leukemia. | 0 |
| 34979355 | 2022 | t(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 |
| 30835357 | 2019 | [Characteristics of a patient with myeloid neoplasm and co-existence of t(7;11)(p15;p15) and t(5;12)(q33;p13) translocations]. | 0 |
| 12181402 | 2002 | Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. | 0 |
| 17325341 | 2007 | The identification of (ETV6)/RUNX1-regulated genes in lymphopoiesis using histone deacetylase inhibitors in ETV6/RUNX1-positive lymphoid leukemic cells. | 0 |
| 31645680 | 2020 | The incidence, genetic characteristics, and prognosis of leukemia with concurrent pathogenic fusion genes: a series of 25 cases from a large cohort of leukemia patients. | 0 |
| 17574967 | 2007 | Molecular 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. | 0 |
| 32386029 | 2020 | Myeloid neoplasm with the abnormality of PDGFRB gene secondary interstitial pneumonia: A case report. | 0 |
| 22571758 | 2012 | De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics. | 0 |
| 21233837 | 2011 | Characterization of NPM1-mutated AML with a history of myelodysplastic syndromes or myeloproliferative neoplasms. | 0 |
| 17508004 | 2007 | A novel ETV6-PDGFRB fusion transcript missed by standard screening in a patient with an imatinib responsive chronic myeloproliferative disease. | 0 |
| 9057655 | 1997 | A 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. | 0 |
| 20806817 | 2010 | [ABL1, SRC and other non-receptor protein tyrosine kinases as new targets for specific anticancer therapy]. | 0 |
| 14671612 | 2003 | Effective treatment of hypereosinophilic syndrome with imatinib mesylate. | 0 |
| 15036944 | 2004 | A 2-year-old with atypical CML with a t(5;12)(q33;p13) treated successfully with imatinib mesylate. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8168137 | 1994 | Fusion 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 |
| 8689343 | 1996 | Myelodysplastic syndrome with t(5;12)(q31;p12-p13) and eosinophilia: a pediatric case with review of literature. | Pellier I et al |
| 7742547 | 1995 | TEL 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 |
Summary
Fusion gene
ETV6/PDGFRB ETV6 (12p13.2) PDGFRB (5q32) M t(5;12)(q32;p13)|ETV6/PDGFRB ETV6 (12p13.2) PDGFRB (5q32) TIC
Note
this translocation must not be confused with the t(5;12)(q31;p13)found in an ALL cell line with IL3 and ETV6 involvements
t(5;12)(q33;p13) G- banding (left) and R- banding (right) - Courtesy Franck Viguié
Citation
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
