t(5;12)(q13;p13) ?/ETV6

2013-12-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


Acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), as well as acute lymphoblastic leukemia (ALL)

Phenotype stem cell origin

Five cases are available to date: 3 myeloid cases: an AML not otherwise specified, a M2-AML, and a RAEB transforming into M2-AML (Kobayashi et al., 1994; Yamamoto et al., 2000; Park et al., 2007); and 2 lymphoid cases: 2 ALLs (Heinonen et al., 1988; Sato et al., 1997). Is not taken into account in this review a case of translocation between 5q13, 12p13, 22q11, and 3q12 with no possible fusion transcript on any derivative chromosome, although ETV6 (12p13) and MN1 (22q12), with also sequences on 5q and on 3q are implicated in the rearrangements (Belloni et al., 2004). One case occurred after exposure to mutagenic agents: a patient experienced a renal carcinoma 3 years before onset of the secondary MDS (Yamamoto et al., 2000).


The myeloid cases were a 58-year old female patient and two 65-year old male patients; the ALL cases were a 1-year old girl and a 12-year old girl.


Scarce data available: a M2-AML case was still alive but in relapse 9 months after diagnosis (Park et al., 2007), and the MDS case evolved towards a M2-AML and the patient died 4 months after diagnosis of the MDS (Yamamoto et al., 2000).

Genes Involved and Proteins

The partner(s) of ETV6 in 5q13 remain(s) unknown. Both one myeloid and one lymphoid cases were tested, and it appears that the breakpoint in ETV6 is not identical: the breakpoint was located in intron 1, and exon 1 was deleted, in the treatment-related myeloid case (Yamamoto et al., 2000), whereas it was located 3 of the ETV6 coding sequence in an ALL case (Sato et al., 1997).
Gene name
ETV6 (ets variant 6)
Protein description
452 amino acids. ETV6 is composed of a HLH domain responsible for hetero- and homodimerization in N-term, and an ETS domain responsible for sequence specific DNA-binding in C-term (binds to the DNA sequence 5-CCGGAAGT-3). Transcriptional regulator; tumor suppressor. Involved in bone marrow hematopoiesis.


Pubmed IDLast YearTitleAuthors
153345512004A new complex rearrangement involving the ETV6, LOC115548, and MN1 genes in a case of acute myeloid leukemia.Belloni E et al
31813971988Cytogenetic study of 105 children with acute lymphoblastic leukemia.Heinonen K et al
79491011994Fluorescence in situ hybridization mapping of translocations and deletions involving the short arm of human chromosome 12 in malignant hematologic diseases.Kobayashi H et al
178546752007t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma.Park TS et al
93897051997Heterogeneity in the breakpoints in balanced rearrangements involving band 12p13 in hematologic malignancies identified by fluorescence in situ hybridization: TEL (ETV6 ) is involved in only one half.Sato Y et al
108671452000Interstitial deletion of the short arm of chromosome 12 during clonal evolution in myelodysplastic syndrome with t(5;12)(q13;p13) involving the ETV6 gene.Yamamoto K et al


Jean-Loup Huret

t(5;12)(q13;p13) ?/ETV6

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1662/t(5;12)(q13;p13)

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