Download Leukaemia Section t(5;12)(q33;p13) ERC1/PDGFRB Atlas of Genetics and Cytogenetics

t(11;14)(q13;q32)
in multiple myeloma
Atlas
of Genetics
and Cytogenetics
in Oncology and Haematology
Huret JL, Laï JL
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Leukaemia Section
Short Communication
t(5;12)(q33;p13) ERC1/PDGFRB
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: January 2012
Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t0512q33p13ID1538.html
DOI: 10.4267/2042/47342
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2012 Atlas of Genetics and Cytogenetics in Oncology and Haematology
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.
Identity
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.
ERC1
Location
12p13.3
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).
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.
Result of the chromosomal
anomaly
Evolution
This leukemia was sensitive to anti tyrosine kinase
treatment.
Hybrid gene
Cytogenetics
Description
5' ERC1 - 3' PDGFRB
Transcript
ERC1 exon 15 fused to PDGFRB exon 10 (nt 3021 - nt
1837).
Cytogenetics morphological
The t(5;12) was the sole anomaly.
Genes involved and proteins
Fusion protein
PDGFRB
Description
Fuses the CAZ (cytomatrix at the active zone) complex
of ERC1 to the tyrosine kinase domain of PDGFRB.
Location
5q32
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(6)
424
t(5;12)(q33;p13) ERC1/PDGFRB
Huret JL
References
chimaera responded to imatinib mesylate therapy. Leukemia.
2007 Jan;21(1):190-2
Golub TR, Barker GF, Lovett M, Gilliland DG. Fusion of PDGF
receptor beta to a novel ets-like gene, tel, in chronic
myelomonocytic
leukemia
with
t(5;12)
chromosomal
translocation. Cell. 1994 Apr 22;77(2):307-16
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, Foà R, Meloni G, Pelicci PG, Mecucci
C. A PDGFRB-positive acute myeloid malignancy with a new
t(5;12)(q33;p13.3) involving the ERC1 gene. Leukemia. 2008
Jan;22(1):216-8
Wlodarska I, Mecucci C, Marynen P, Guo C, Franckx D, La
Starza R, Aventin A, Bosly A, Martelli MF, Cassiman JJ. 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). Blood. 1995 May 15;85(10):2848-52
Erben P, Gosenca D, Müller MC, Reinhard J, Score J, Del
Valle F, Walz C, Mix J, Metzgeroth G, Ernst T, Haferlach C,
Cross NC, Hochhaus A, Reiter A. Screening for diverse
PDGFRA or PDGFRB fusion genes is facilitated by generic
quantitative reverse transcriptase polymerase chain reaction
analysis. Haematologica. 2010 May;95(5):738-44
Nadal N, Flandrin P, Cornillon J, Delabesse E, Mauvieux L,
Olaru D, Morel S, Campos L. Successful treatment with
imatinib mesylate in a case of chronic myeloproliferative
disorder with a t(5;12)(q33;p13.1) without eosinophilia. Cancer
Genet Cytogenet. 2006 Sep;169(2):174-5
Hida Y, Ohtsuka T. CAST and ELKS proteins: structural and
functional determinants of the presynaptic active zone. J
Biochem. 2010 Aug;148(2):131-7
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. 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. Cancer
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Mitelman F, Johansson B, Mertens F.. Mitelman Database of
Chromosome Aberrations and Gene Fusions in Cancer
Mitelman F, Johansson B and Mertens F (Eds.). 2012.
http://cgap.nci.nih.gov/Chromosomes/Mitelman
This article should be referenced as such:
Tokita K, Maki K, Tadokoro J, Nakamura Y, Arai Y, Sasaki K,
Eguchi-Ishimae M, Eguchi M, Mitani K. Chronic idiopathic
myelofibrosis expressing a novel type of TEL-PDGFRB
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(6)
Huret JL. t(5;12)(q33;p13) ERC1/PDGFRB. Atlas Genet
Cytogenet Oncol Haematol. 2012; 16(6):424-425.
425