t(5;12)(q33;p13) ERC1/PDGFRB

2012-01-01   Jean-Loup Huret 

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

Clinics and Pathology


One case to date with ascertainment of a breakpoint in ERC1, a M5a-AML in a 36-year-old male patient.


This leukemia was sensitive to anti tyrosine kinase treatment.

Genes Involved and Proteins

Gene name
PDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Although the translocation is described as t(5;12)(q33;p13), PDGFRB sits in 5q32.
Protein description
Membrane receptor that binds specifically to PDGFB and has a tyrosine-protein kinase activity. Signal transduction.
Gene name
ERC1 (ELKS/RAB6-interacting/CAST family member 1)
Protein description
Involved in exocytosis. Ubiquitously expressed. In nerve terminals, ERC1/ELKS and ERC2/CAST are localized in the active zone (AZ), a region beneath the presynaptic plasma membrane.
Protein description
They interact with other AZ proteins (RIM1, Piccolo, Bassoon, and Munc13-1), forming a large molecular complex, and are involved in the release of neurotransmitters (review in Hida and Ohtsuka, 2010).

Result of the Chromosomal Anomaly




ERC1 exon 15 fused to PDGFRB exon 10 (nt 3021 - nt 1837).


Fuses the CAZ (cytomatrix at the active zone) complex of ERC1 to the tyrosine kinase domain of PDGFRB.


Pubmed IDLast YearTitleAuthors
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.Crescenzi B et al
201071582010Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis.Erben P et al
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
176906972008A PDGFRB-positive acute myeloid malignancy with a new t(5;12)(q33;p13.3) involving the ERC1 gene.Gorello P et al
205810142010CAST and ELKS proteins: structural and functional determinants of the presynaptic active zone.Hida Y et al
169385782006Successful treatment with imatinib mesylate in a case of chronic myeloproliferative disorder with a t(5;12)(q33;p13.1) without eosinophilia.Nadal N et al
171228662007Chronic idiopathic myelofibrosis expressing a novel type of TEL-PDGFRB chimaera responded to imatinib mesylate therapy.Tokita K 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

ERC1/PDGFRB ERC1 (12p13.33) PDGFRB (5q32) M t(5;12)(q32;p13)|ERC1/PDGFRB ERC1 (12p13.33) PDGFRB (5q32) TIC


This translocation should not be confused with the t(5;12)(q33;p13) ETV6/PDGFRB, found so far in chronic myelomonocytic leukemia (3 cases, Golub et al., 1994; Wlodarska et al., 1995; Crescenzi et al., 2007), atypical chronic myeloproliferative disorder (1 case, Nadal et al., 2006), chronic eosinophilic leukemia (1 case, Erben et al., 2010), and acute myeloid leukemia (1 case, Tokita et al., 2007). However, 26 cases of t(5;12)(q33;p13) at least have been described in the litterature (see Mitelman database), most of them without molecular studies.


Jean-Loup Huret

t(5;12)(q33;p13) ERC1/PDGFRB

Atlas Genet Cytogenet Oncol Haematol. 2012-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1538/t(5;12)(q33;p13)