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t(1;12)(p36;p13) ETV6/MDS2

Written2003-07Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1170

Clinics and Pathology

Disease Myeloid disorders: one chronic myelogenous leukemia with t(9;22) and one refractory anemiia with excee of blasts in transformation
Epidemiology only 2 cases so far: 1 male and 1 female patient, aged 50 and 66 yrs
Prognosis unknown so far

Genes involved and Proteins

Gene NameMDS2 (myelodysplastic syndrome 2 translocation associated)
Location 1p36.11
Dna / Rna 7 exons; alternate splicing
Gene NameETV6 (ets variant 6)
Location 12p13.2
Dna / Rna 9 exons; alternate splicing
Protein contains a Helix-Loop-Helix and ETS DNA binding domains; wide expression; nuclear localisation; ETS-related transcription factor

Result of the chromosomal anomaly

Hybrid gene
Description 5' ETV6 - 3' MDS2; exons 1 and 2 of ETV6 are fused to exons 6 and 7 of MDS2; fusion is not in frame; the reciprocal fusion gene is not expressed
Fusion Protein
Description truncated ETV6 lacking the PTN domain and the DNA binding domain

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.
Case Report A Case of Myelodysplastic Syndrome with a Translocation t(1;12)(p36;p13)


A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome.
Odero MD, Vizmanos JL, Román JP, Lahortiga I, Panizo C, Calasanz MJ, Zeleznik-Le NJ, Rowley JD, Novo FJ
Genes, chromosomes & cancer. 2002 ; 35 (1) : 11-19.
PMID 12203785
Granulocytic sarcoma of the larynx preceding chronic myeloid leukemia.
Vassallo J, Altemani AM, Cardinalli IA, Crespo AN, Lima CS, Eid KA, Souza CA
Pathology, research and practice. 1993 ; 189 (9) : 1084-1086.
PMID 8302728


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2003;7(3):186-186.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes ETV6 MDS2

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;12)(p36;p13) ETV6/MDS2

External links

ETV6 (12p13.2) MDS2 (1p36.11)

ETV6 (12p13.2) MDS2 (1p36.11)

Mitelman databaset(1;12)(p36;p13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseETV6/MDS2 [MCList]  ETV6 (12p13.2) MDS2 (1p36.11)
TICdbETV6/MDS2  ETV6 (12p13.2) MDS2 (1p36.11)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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