| 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 |
| 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 Sep 18 17:20:14 CEST 2017 |
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