t(12;22)(p13;q12) MN1/ETV6

1997-10-01   Jean-Loup Huret , Jacqueline Van den Akker 

1.Laboratoire De Cytogenetique, Hôpital Saint-Antoine, 184, rue du Faubourg Saint-Antoine, 75571 Paris, Cedex 12, France
2.Laboratoire De Cytogenetique, Hôpital Saint-Antoine, 184, rue du Faubourg Saint-Antoine, 75571 Paris, Cedex 12, France

Clinics and Pathology


myeloid lineage (AML, MDS)

Phenotype stem cell origin

M4 AML often (6/11); M7 AML, other AML; RAEBevolving towards AML; atypical CML; may occur secondary to genotoxicexposure


yet poorly known; median age: 22 yrs (range 8-60; n=11 casesherein reviewed); male predominance so far (8/3)


yet uncertain: survival range 0mths-6yrs, median 2yrs, n=9


Cytogenetics morphological

easily detected, especially with R-banding

Additional anomalies

+8 in half cases; various (e.g. del(5q)); sole anomalyin 3/11

Genes Involved and Proteins

Gene name
ETV6 (ets variant 6)
Dna rna description
9 exons; alternate splicing
Protein description
contains a Helix-Loop-Helix and ETS DNA bindingdomains; wide expression; nuclear localisation; ETS-related transcriptionfactor
Gene name
MN1 (meningioma 1)
Dna rna description
alternate splicing
Protein description
glutamine and prolin rich protein; widely expressed;
Protein description
transcriptionnal regulator

Result of the Chromosomal Anomaly


variable breakpoints in ETV6N term-MN1-ETV6-C term, with most of MN1, including theglutamine/proline rich domain, fused to the DNA binding of ETV6; thereciprocal ETV6/MN1 may or may not be expressed

Expression localisation

nuclear protein


may act as an altered transcription factor

Highly cited references

Pubmed IDYearTitleCitations
319029452020Ectopia associated MN1 fusions and aberrant activation in myeloid neoplasms with t(12;22)(p13;q12).4
335424822021Menin is necessary for long term maintenance of meningioma-1 driven leukemia.3
292739142018Myeloid neoplasms with t(12;22)(p13;q12)/MN1-EVT6: a systematic review of 12 cases.3
216006512011MN1-ETV6 fusion gene arising from MDS with 5q-.2
307032252019[Molecular cytogenetic characterization of five patients with myeloid leukemia and t(12;22)(p13;q12)].1
354838762022Acute myeloid leukemia with an MN1-ETV6 fusion in a young child with Down syndrome.0
296956912018[Identification of Fusion Transcripts in Leukеmic Cells by Whole-Transcriptome Sequencing].0


Pubmed IDLast YearTitleAuthors
77317051995Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.Buijs A et al


Fusion gene

MN1/ETV6 MN1 (22q12.1) ETV6 (12p13.2) M|MN1/ETV6 MN1 (22q12.1) ETV6 (12p13.2) M t(12;22)(p13;q12)|MN1/ETV6 MN1 (22q12.1) ETV6 (12p13.2) TIC
Atlas Image
t(12;22)(p13;q11-12) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.


Jean-Loup Huret ; Jacqueline Van den Akker

t(12;22)(p13;q12) MN1/ETV6

Atlas Genet Cytogenet Oncol Haematol. 1997-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1031/t(12;22)(p13;q12)