Atlast(11;14)(q13;q32) of Genetics in multiple myeloma and Cytogenetics Huret JL, Laï JL in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS

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

Identity Note Although the translocation is described as This translocation should not be confused with the t(5;12)(q33;p13), PDGFRB sits in 5q32. t(5;12)(q33;p13) ETV6/PDGFRB, found so far in Protein chronic myelomonocytic leukemia (3 cases, Golub et Membrane receptor that binds specifically to PDGFB al., 1994; Wlodarska et al., 1995; Crescenzi et al., and has a tyrosine-protein kinase activity. Signal 2007), atypical chronic myeloproliferative disorder (1 transduction. case, Nadal et al., 2006), chronic eosinophilic leukemia (1 case, Erben et al., 2010), and acute myeloid ERC1 leukemia (1 case, Tokita et al., 2007). However, 26 cases of t(5;12)(q33;p13) at least have been described Location in the litterature (see Mitelman database), most of them 12p13.3 without molecular studies. Protein Involved in exocytosis. Ubiquitously expressed. In Clinics and pathology nerve terminals, ERC1/ELKS and ERC2/CAST are localized in the active zone (AZ), a region beneath the Disease presynaptic plasma membrane. Acute myeloid leukemia They interact with other AZ proteins (RIM1, Piccolo, Bassoon, and Munc13-1), forming a large molecular Epidemiology complex, and are involved in the release of One case to date with ascertainment of a breakpoint in neurotransmitters (review in Hida and Ohtsuka, 2010). ERC1, a M5a-AML in a 36-year-old male patient. Evolution Result of the chromosomal This leukemia was sensitive to anti tyrosine kinase anomaly treatment. Hybrid gene Cytogenetics Description 5' ERC1 - 3' PDGFRB Cytogenetics morphological Transcript The t(5;12) was the sole anomaly. ERC1 exon 15 fused to PDGFRB exon 10 (nt 3021 - nt Genes involved and proteins 1837). Fusion protein PDGFRB Description Location Fuses the CAZ (cytomatrix at the active zone) complex 5q32 of ERC1 to the tyrosine kinase domain of PDGFRB.

Atlas Genet Cytogenet Oncol Haematol. 2012; 16(6) 424 t(5;12)(q33;p13) ERC1/PDGFRB Huret JL

chimaera responded to imatinib mesylate therapy. Leukemia. References 2007 Jan;21(1):190-2 Golub TR, Barker GF, Lovett M, Gilliland DG. Fusion of PDGF Gorello P, La Starza R, Brandimarte L, Trisolini SM, Pierini V, receptor beta to a novel ets-like gene, tel, in chronic Crescenzi B, Limongi MZ, Nanni M, Belloni E, Tapinassi C, myelomonocytic leukemia with t(5;12) chromosomal Gerbino E, Martelli MF, Foà R, Meloni G, Pelicci PG, Mecucci translocation. Cell. 1994 Apr 22;77(2):307-16 C. A PDGFRB-positive acute myeloid malignancy with a new t(5;12)(q33;p13.3) involving the ERC1 gene. Leukemia. 2008 Wlodarska I, Mecucci C, Marynen P, Guo C, Franckx D, La Jan;22(1):216-8 Starza R, Aventin A, Bosly A, Martelli MF, Cassiman JJ. TEL gene is involved in myelodysplastic syndromes with either the Erben P, Gosenca D, Müller MC, Reinhard J, Score J, Del typical t(5;12)(q33;p13) translocation or its variant Valle F, Walz C, Mix J, Metzgeroth G, Ernst T, Haferlach C, t(10;12)(q24;p13). Blood. 1995 May 15;85(10):2848-52 Cross NC, Hochhaus A, Reiter A. Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic Nadal N, Flandrin P, Cornillon J, Delabesse E, Mauvieux L, quantitative reverse transcriptase polymerase chain reaction Olaru D, Morel S, Campos L. Successful treatment with analysis. Haematologica. 2010 May;95(5):738-44 imatinib mesylate in a case of chronic myeloproliferative disorder with a t(5;12)(q33;p13.1) without eosinophilia. Cancer Hida Y, Ohtsuka T. CAST and ELKS proteins: structural and Genet Cytogenet. 2006 Sep;169(2):174-5 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 Mitelman F, Johansson B, Mertens F.. Mitelman Database of P, Mecucci C. Molecular cytogenetic findings in a four-way Chromosome Aberrations and Gene Fusions in Cancer t(1;12;5;12)(p36;p13;q33;q24) underlying the ETV6-PDGFRB Mitelman F, Johansson B and Mertens F (Eds.). 2012. fusion gene in chronic myelomonocytic leukemia. Cancer http://cgap.nci.nih.gov/Chromosomes/Mitelman Genet Cytogenet. 2007 Jul 1;176(1):67-71 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 Huret JL. t(5;12)(q33;p13) ERC1/PDGFRB. Atlas Genet myelofibrosis expressing a novel type of TEL-PDGFRB Cytogenet Oncol Haematol. 2012; 16(6):424-425.

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