t(12;22)(p13;q12) MN1/ETV6
1997-10-01 Jean-Loup Huret , Jacqueline Van den Akker Affiliation1.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
Gene name
MN1 (meningioma 1)
Location
22q12.1
Dna rna description
alternate splicing
Protein description
glutamine and prolin rich protein; widely expressed;
Protein description
transcriptionnal regulator
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
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33542482 | 2021 | Menin is necessary for long term maintenance of meningioma-1 driven leukemia. | 58 |
| 31902945 | 2020 | Ectopia associated MN1 fusions and aberrant activation in myeloid neoplasms with t(12;22)(p13;q12). | 31 |
| 36975735 | 2023 | Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/MN1::ETV6 Translocation. | 23 |
| 35483876 | 2022 | Acute myeloid leukemia with an MN1-ETV6 fusion in a young child with Down syndrome. | 23 |
| 37434656 | 2023 | Detection of an MN1::ETV6 Gene Fusion in a Case of Acute Myeloid Leukemia with Erythroid Differentiation: A Case Report and Review of the Literature. | 19 |
| 38685592 | 2024 | MN1::ETV6-positive de novo T-cell acute lymphoblastic leukaemia is sensitive to venetoclax: A case report. | 0 |
| 29273914 | 2018 | Myeloid neoplasms with t(12;22)(p13;q12)/MN1-EVT6: a systematic review of 12 cases. | 0 |
| 21600651 | 2011 | MN1-ETV6 fusion gene arising from MDS with 5q-. | 0 |
| 30703225 | 2019 | [Molecular cytogenetic characterization of five patients with myeloid leukemia and t(12;22)(p13;q12)]. | 0 |
| 29695691 | 2018 | [Identification of Fusion Transcripts in Leukеmic Cells by Whole-Transcriptome Sequencing]. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 7731705 | 1995 | 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 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
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/tumors-explorer/meetings/
