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t(5;12)(q32;p13) ETV6/PDGFRB

Written2018-01Jean-Loup Huret, Philippe Dessen

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 3424
Note Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation, go to  How to contribute

Clinics and Pathology

Disease Acute lymphoblastic leukemia/lymphoblastic lymphoma|Acute myeloblastic leukemia with minimal differentiation (FAB type M0)|Acute myeloid leukemia, NOS|Chronic eosinophilic leukemia/hypereosinophilic syndrome|Chronic myelomonocytic leukemia|Chronic myeloproliferative disorder, NOS

Genes involved and Proteins

Gene NameETV6
Location 12p13.2
Gene NamePDGFRB
Location 5q32

Bibliography

Successful treatment with imatinib mesylate in a case of chronic myeloproliferative disorder with a t(5;12)(q33;p13
Nadal N, Flandrin P, Cornillon J, Delabesse E, Mauvieux L, Olaru D, Morel S, Campos L
1) without eosinophilia Cancer Genet Cytogenet
PMID 16938578
 
Therapy-related myeloproliferative neoplasm with ETV6-PDGFRB rearrangement following treatment of acute promyelocytic leukemia
Malfuson JV, Konopacki J, Fagot T, Desangles F, Bories D, Souleau B, de Revel T
Ann Hematol 2011 Dec;90(12):1477-9
PMID 21350831
 
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
PMID 17122866
 
Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis
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
Haematologica 2010 May;95(5):738-44
PMID 20107158
 
ETV6 rearrangements are recurrent in myeloid malignancies and are frequently associated with other genetic events
Haferlach C, Bacher U, Schnittger S, Alpermann T, Zenger M, Kern W, Haferlach T
Genes Chromosomes Cancer 2012 Apr;51(4):328-37
PMID 22162288
 
Genomic Profiling of Adult and Pediatric B-cell Acute Lymphoblastic Leukemia
Liu YF, Wang BY, Zhang WN, Huang JY, Li BS, Zhang M, Jiang L, Li JF, Wang MJ, Dai YJ, Zhang ZG, Wang Q, Kong J, Chen B, Zhu YM, Weng XQ, Shen ZX, Li JM, Wang J, Yan XJ, Li Y, Liang YM, Liu L, Chen XQ, Zhang WG, Yan JS, Hu JD, Shen SH, Chen J, Gu LJ, Pei D, Li Y, Wu G, Zhou X, Ren RB, Cheng C, Yang JJ, Wang KK, Wang SY, Zhang J, Mi JQ, Pui CH, Tang JY, Chen Z, Chen SJ
EBioMedicine 2016 Jun;8:173-183
PMID 27428428
 
Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia
Gu Z, Churchman M, Roberts K, Li Y, Liu Y, Harvey RC, McCastlain K, Reshmi SC, Payne-Turner D, Iacobucci I, Shao Y, Chen IM, Valentine M, Pei D, Mungall KL, Mungall AJ, Ma Y, Moore R, Marra M, Stonerock E, Gastier-Foster JM, Devidas M, Dai Y, Wood B, Borowitz M, Larsen EE, Maloney K, Mattano LA Jr, Angiolillo A, Salzer WL, Burke MJ, Gianni F, Spinelli O, Radich JP, Minden MD, Moorman AV, Patel B, Fielding AK, Rowe JM, Luger SM, Bhatia R, Aldoss I, Forman SJ, Kohlschmidt J, Mrózek K, Marcucci G, Bloomfield CD, Stock W, Kornblau S, Kantarjian HM, Konopleva M, Paietta E, Willman CL, Loh ML, Hunger SP, Mullighan CG
Nat Commun 2016 Nov 8;7:13331
PMID 27824051
 
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
 
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
 


Translocations implicated (Data extracted from papers in the Atlas)

 t(5;12)(q32;p13) ETV6/PDGFRB

External links

ETV6 (12p13.2) PDGFRB (5q32)

Mitelman databaset(5;12)(q32;p13) [Case List]    t(5;12)(q32;p13) [Transloc-MCList] ETV6/PDGFRB [Fusion-MCList]
COSMICHisto = - Site = haematopoietic_and_lymphoid_tissue (COSMIC)
arrayMap (UZH-SIB Zurich)[select an item]
 
 
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Mon Jul 9 10:14:04 CEST 2018


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