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

Written2013-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1662

Clinics and Pathology

Disease Acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), as well as acute lymphoblastic leukemia (ALL)
Phenotype / cell stem 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).
Epidemiology 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.
Prognosis 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).


Cytogenetics Morphological The t(5;12) was the sole anomaly in two myeloid cases and part of a complex karyotype in the treatment-related myeloid case. The t(5;12) was accompanied with a marker chromosome in the infant case, and with numerical anomalies in the other lymphoid case.

Genes involved and Proteins

Note 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 NameETV6 (ets variant 6)
Location 12p13.2
Protein 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.

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.


A new complex rearrangement involving the ETV6, LOC115548, and MN1 genes in a case of acute myeloid leukemia.
Belloni E, Trubia M, Mancini M, Derme V, Nanni M, Lahortiga I, Riccioni R, Confalonieri S, Lo-Coco F, Di Fiore PP, Pelicci PG.
Genes Chromosomes Cancer. 2004 Nov;41(3):272-7.
PMID 15334551
Cytogenetic study of 105 children with acute lymphoblastic leukemia.
Heinonen K, Rautonen J, Siimes MA, Knuutila S.
Eur J Haematol. 1988 Sep;41(3):237-42.
PMID 3181397
Fluorescence in situ hybridization mapping of translocations and deletions involving the short arm of human chromosome 12 in malignant hematologic diseases.
Kobayashi H, Montgomery KT, Bohlander SK, Adra CN, Lim BL, Kucherlapati RS, Donis-Keller H, Holt MS, Le Beau MM, Rowley JD.
Blood. 1994 Nov 15;84(10):3473-82.
PMID 7949101
t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma.
Park TS, Song J, Lee KA, Lee SG, Min YH, Choi JR.
Cancer Genet Cytogenet. 2007 Sep;177(2):158-60.
PMID 17854675
Heterogeneity 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, Bohlander SK, Kobayashi H, Reshmi S, Suto Y, Davis EM, Espinosa R, Hoopes R, Montgomery KT, Kucherlapati RS, Le Beau MM, Rowley JD.
Blood. 1997 Dec 15;90(12):4886-93.
PMID 9389705
Interstitial 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, Nagata K, Yagasaki F, Tsurukubo Y, Tamura A, Taniwaki M, Hamaguchi H.
Cancer Genet Cytogenet. 2000 Jun;119(2):113-7. (REVIEW)
PMID 10867145


This paper should be referenced as such :
Huret, JL
t(5;12)(q13;p13) ?/ETV6
Atlas Genet Cytogenet Oncol Haematol. 2014;18(6):441-442.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes ETV6

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;12)(q13;p13) ?/ETV6

External links

Mitelman databaset(5;12)(q13;p13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [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]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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