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

Written2012-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9966/3 Myeloid and lymphoid neoplasms with PDGFRB rearrangement
Atlas_Id 1538
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.

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.


Cytogenetics Morphological The t(5;12) was the sole anomaly.

Genes involved and Proteins

Gene NamePDGFRB (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 Membrane receptor that binds specifically to PDGFB and has a tyrosine-protein kinase activity. Signal transduction.
Gene NameERC1 (ELKS/RAB6-interacting/CAST family member 1)
Location 12p13.33
Protein 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.
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

Hybrid gene
Description 5' ERC1 - 3' PDGFRB
Transcript ERC1 exon 15 fused to PDGFRB exon 10 (nt 3021 - nt 1837).
Fusion Protein
Description Fuses the CAZ (cytomatrix at the active zone) complex of ERC1 to the tyrosine kinase domain of PDGFRB.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


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.
Crescenzi B, La Starza R, Nozzoli C, Ciolli S, Matteucci C, Romoli S, Rigacci L, Gorello P, Bosi A, Martelli MF, Marynen P, Mecucci C.
Cancer Genet Cytogenet. 2007 Jul 1;176(1):67-71.
PMID 17574967
Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis.
Erben P, Gosenca D, Muller MC, Reinhard J, Score J, Del Valle F, Walz C, Mix J, Metzgeroth G, Ernst T, Haferlach C, Cross NC, Hochhaus A, Reiter A.
Haematologica. 2010 May;95(5):738-44. Epub 2010 Jan 27.
PMID 20107158
Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation.
Golub TR, Barker GF, Lovett M, Gilliland DG.
Cell. 1994 Apr 22;77(2):307-16.
PMID 8168137
A PDGFRB-positive acute myeloid malignancy with a new t(5;12)(q33;p13.3) involving the ERC1 gene.
Gorello P, La Starza R, Brandimarte L, Trisolini SM, Pierini V, Crescenzi B, Limongi MZ, Nanni M, Belloni E, Tapinassi C, Gerbino E, Martelli MF, Foa R, Meloni G, Pelicci PG, Mecucci C.
Leukemia. 2008 Jan;22(1):216-8. Epub 2007 Aug 9.
PMID 17690697
CAST and ELKS proteins: structural and functional determinants of the presynaptic active zone.
Hida Y, Ohtsuka T.
J Biochem. 2010 Aug;148(2):131-7. Epub 2010 Jun 24. (REVIEW)
PMID 20581014
Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer
Mitelman F, Johansson B, Mertens F.
Mitelman F, Johansson B and Mertens F (Eds.). 2012.
Successful treatment with imatinib mesylate in a case of chronic myeloproliferative disorder with a t(5;12)(q33;p13.1) without eosinophilia.
Nadal N, Flandrin P, Cornillon J, Delabesse E, Mauvieux L, Olaru D, Morel S, Campos L.
Cancer Genet Cytogenet. 2006 Sep;169(2):174-5.
PMID 16938578
Chronic idiopathic myelofibrosis expressing a novel type of TEL-PDGFRB chimaera responded to imatinib mesylate therapy.
Tokita K, Maki K, Tadokoro J, Nakamura Y, Arai Y, Sasaki K, Eguchi-Ishimae M, Eguchi M, Mitani K.
Leukemia. 2007 Jan;21(1):190-2. Epub 2006 Nov 23.
PMID 17122866
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, Mecucci C, Marynen P, Guo C, Franckx D, La Starza R, Aventin A, Bosly A, Martelli MF, Cassiman JJ, et al.
Blood. 1995 May 15;85(10):2848-52.
PMID 7742547


This paper should be referenced as such :
Huret, JL
t(5;12)(q33;p13) ERC1/PDGFRB
Atlas Genet Cytogenet Oncol Haematol. 2012;16(6):424-425.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;12)(q33;p13) ERC1/PDGFRB

External links

ERC1 (12p13.33) PDGFRB (5q32)

ERC1 (12p13.33) PDGFRB (5q32)

Mitelman databaset(5;12)(q33;p13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9966/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseERC1::PDGFRB [MCList]  ERC1 (12p13.33) PDGFRB (5q32)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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