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

Written1997-10Jacqueline Van den Akker, Jean-Loup Huret
Laboratoire De Cytogenetique, Hôpital Saint-Antoine, 184, rue du Faubourg Saint-Antoine, 75571 Paris, Cedex 12, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
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 1031
 
  t(12;22)(p13;q11-12) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.

Clinics and Pathology

Disease myeloid lineage (AML, MDS)
Phenotype / cell stem origin M4 AML often (6/11); M7 AML, other AML; RAEB evolving towards AML; 'atypical CML'; may occur secondary to genotoxic exposure
Epidemiology yet poorly known; median age: 22 yrs (range 8-60; n=11 cases herein 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 anomaly in 3/11

Genes involved and Proteins

Gene Name ETV6
Location 12p13
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
Gene Name MN1
Location 22q11
Dna / Rna alternate splicing
Protein glutamine and prolin rich protein; widely expressed; transcriptionnal regulator

Result of the chromosomal anomaly

Hybrid gene
Description variable breakpoints in ETV6
  
Fusion Protein
Description N term-MN1-ETV6-C term, with most of MN1, including the glutamine/proline rich domain, fused to the DNA binding of ETV6; the reciprocal ETV6/MN1 may or may not be expressed
Expression Localisation nuclear protein
Oncogenesis may act as an altered transcription factor
  

Bibliography

Translocation (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, Sherr S, van Baal S, van Bezouw S, van der Plas D, Geurts van Kessel A, Riegman P, Lekanne Deprez R, Zwarthoff E, Hagemeijer A
Oncogene. 1995 ; 10 (8) : 1511-1519.
PMID 7731705
 

Citation

This paper should be referenced as such :
Van, den Akker J ; Huret, JL
t(12;22)(p13;q11-12)
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):81-82.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1222ID1031.html


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

Genes ETV6 MN1

Translocations implicated (Data extracted from papers in the Atlas)

 t(12;22)(p13;q12) MN1/ETV6

External links

MN1 (22q12.1) ETV6 (12p13.2)

MN1 (22q12.1) ETV6 (12p13.2)

MN1 (22q12.1) ETV6 (12p13.2)

Mitelman databaset(12;22)(p13;q12) [Case List]    t(12;22)(p13;q12) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseMN1/ETV6 [MCList]  MN1 (22q12.1) ETV6 (12p13.2)
Mitelman databaseMN1/ETV6 [MCList]  MN1 (22q12.1) ETV6 (12p13.2)
TICdbMN1/ETV6  MN1 (22q12.1) ETV6 (12p13.2)
 
Disease databaset(12;22)(p13;q12) MN1/ETV6
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Tue Mar 14 13:55:35 CET 2017


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