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

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 database	t(12;22)(p13;q12) [Case List]    t(12;22)(p13;q12) [Association List] Mitelman database (CGAP - NCBI)
arrayMap	Topo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap	Topo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap	Topo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman database	MN1/ETV6 [MCList]  MN1 (22q12.1) ETV6 (12p13.2)
Mitelman database	MN1/ETV6 [MCList]  MN1 (22q12.1) ETV6 (12p13.2)
TICdb	MN1/ETV6  MN1 (22q12.1) ETV6 (12p13.2)
Disease database	t(12;22)(p13;q12) MN1/ETV6

REVIEW articles	automatic search in PubMed
Last year articles	automatic search in PubMed
All articles	automatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Fri Jun 30 11:23:52 CEST 2017

For comments and suggestions or contributions, please contact us