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

Disease

Acute myeloid leukemia

Epidemiology

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

Evolution

This leukemia was sensitive to anti tyrosine kinase treatment.

Genes Involved and Proteins

Gene name
PDGFRB (platelet-derived growth factor receptor, beta polypeptide)
Location
5q32
Note
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)
Location
12p13.33
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

Description

5 ERC1 - 3 PDGFRB

Transcript

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

Description

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

Bibliography

Pubmed IDLast YearTitleAuthors

Summary

Fusion gene

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

Note

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.

Citation

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/gene-explorer/gene-explorer/