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

Disease

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

Epidemiology

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

Prognosis

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

Cytogenetics

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)
Location
12p13.2
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 , transcriptionnal regulator
Gene name
MN1 (meningioma 1)
Location
22q12.1
Dna rna description
alternate splicing
Protein description
glutamine and prolin rich protein; widely expressed;

Result of the Chromosomal Anomaly

Description

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

Oncogenesis

may act as an altered transcription factor

Bibliography

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

Summary

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.

Citation

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)

External Links