Written | 1997-10 | Jacqueline Van den Akker, Jean-Loup Huret |
Laboratoire De Cytogenetique, Hôpital Saint-Antoine, 184, rue du Faubourg Saint-Antoine, 75571 Paris, Cedex 12, France |
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 (ets variant 6) |
Location | 12p13.2 |
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 (meningioma 1) |
Location | 22q12.1 |
Dna / Rna | alternate splicing |
Protein | glutamine and prolin rich protein; widely expressed; transcriptionnal regulator |
Result of the chromosomal anomaly |
Description | variable breakpoints in ETV6 |
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 |
Mitelman database | t(12;22)(p13;q12) |
arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9861/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9975/3) - [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] |
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) |
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 : Mon Dec 14 18:26:38 CET 2020 |
For comments and suggestions or contributions, please contact us