t(3;12)(q26;q21) ?/MECOM
2007-05-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Treatment related acute myeloid leukaemia (t-AML)
Epidemiology
Only one case to date, a 47 year old male patient
Prognosis
No data
Genes Involved and Proteins
Note
The partner of EVI1 is yet unknown.
Gene name
MECOM (Ecotropic Viral Integration Site 1 (EVI1) and Myelodysplastic Syndrome 1 (MDS1-EVI1)
Location
3q26.2
Protein description
Transcrition factor; EVI1 targets include:GATA2, ZBTB16 /PLZF, ZFPM2/FOG2, JNK and the PI3K/AKT pathway. Role in cell cycle progression, likely to be cell-type dependant; antiapoptotic factor; involved in neuronal development organogenesis; role in hematopoietic differsntiation
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35682627 | 2022 | Molecular Classification and Overcoming Therapy Resistance for Acute Myeloid Leukemia with Adverse Genetic Factors. | 169 |
| 36648903 | 2022 | Advances in Understanding the Genetic Mechanisms of Zebrafish Renal Multiciliated Cell Development. | 141 |
| 32900260 | 2020 | All-trans retinoic acid in non-promyelocytic acute myeloid leukemia: driver lesion dependent effects on leukemic stem cells. | 119 |
| 37810550 | 2023 | EVI1-mediated Programming of Normal and Malignant Hematopoiesis. | 118 |
| 37676768 | 2023 | Determinants of motor neuron functional subtypes important for locomotor speed. | 105 |
| 37091189 | 2023 | Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle. | 99 |
| 38834613 | 2024 | Orthogonal proteogenomic analysis identifies the druggable PA2G4-MYC axis in 3q26 AML. | 96 |
| 34818047 | 2021 | Predicting master transcription factors from pan-cancer expression data. | 90 |
| 39803492 | 2024 | CEBPA repression by MECOM blocks differentiation to drive aggressive leukemias. | 86 |
| 35949554 | 2022 | MECOM promotes supporting cell proliferation and differentiation in cochlea. | 81 |
| 39148824 | 2024 | Genetics of Cardiac Aging Implicate Organ-Specific Variation. | 81 |
| 36802703 | 2023 | Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program. | 77 |
| 39227582 | 2024 | Efficient generation of human NOTCH ligand-expressing haemogenic endothelial cells as infrastructure for in vitro haematopoiesis and lymphopoiesis. | 77 |
| 29222283 | 2017 | Hereditary thrombocytopenias: a growing list of disorders. | 75 |
| 33432064 | 2021 | Identification of loci associated with susceptibility to bovine paratuberculosis and with the dysregulation of the MECOM, eEF1A2, and U1 spliceosomal RNA expression. | 73 |
| 35212715 | 2022 | Mapping the developing human cardiac endothelium at single-cell resolution identifies MECOM as a regulator of arteriovenous gene expression. | 71 |
| 33239696 | 2020 | Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women. | 71 |
| 26024215 | 2015 | Recent advances in elucidating the genetic mechanisms of nephrogenesis using zebrafish. | 71 |
| 36672407 | 2023 | 3q26.2/MECOM Rearrangements by Pericentric Inv(3): Diagnostic Challenges and Clinicopathologic Features. | 69 |
| 36522544 | 2023 | A genetic disorder reveals a hematopoietic stem cell regulatory network co-opted in leukemia. | 68 |
| 37185814 | 2023 | Epigenetic landscape reveals MECOM as an endothelial lineage regulator. | 67 |
| 38357822 | 2024 | Directed Differentiation of Human Induced Pluripotent Stem Cells to Heart Valve Cells. | 63 |
| 37705244 | 2023 | Myelodysplasia after clonal hematopoiesis with APOBEC3-mediated CYBB inactivation in retroviral gene therapy for X-CGD. | 61 |
| 33762742 | 2021 | MECOM permits pancreatic acinar cell dedifferentiation avoiding cell death under stress conditions. | 57 |
| 37845228 | 2023 | Sleeping Beauty transposon mutagenesis identified genes and pathways involved in inflammation-associated colon tumor development. | 56 |
| 35418685 | 2022 | Mapping human haematopoietic stem cells from haemogenic endothelium to birth. | 55 |
| 37099686 | 2023 | Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice. | 54 |
| 38748792 | 2024 | Oncogene EVI1 drives acute myeloid leukemia via a targetable interaction with CTBP2. | 53 |
| 35733338 | 2022 | CRISPR-mediated MECOM depletion retards tumor growth by reducing cancer stem cell properties in lung squamous cell carcinoma. | 53 |
| 39504041 | 2025 | Distinct Genetic Risk Profile in Aortic Stenosis Compared With Coronary Artery Disease. | 52 |
| 39468462 | 2024 | MECOM and the PRDM gene family in uterine endometrial cancer: bioinformatics and experimental insights into pathogenesis and therapeutic potentials. | 52 |
| 29572239 | 2018 | Identification of novel MECOM gene fusion and personalized therapeutic targets through integrative clinical sequencing in secondary acute myeloid leukemia in a patient with severe congenital neutropenia: a case report and literature review. | 52 |
| 36789545 | 2023 | Pathologic, cytogenetic, and molecular features of acute myeloid leukemia with megakaryocytic differentiation: A report from the Children's Oncology Group. | 51 |
| 39333095 | 2024 | The microprotein HDSP promotes gastric cancer progression through activating the MECOM-SPINK1-EGFR signaling axis. | 50 |
| 29540340 | 2018 | MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. | 50 |
| 38883603 | 2024 | Potential molecular and cellular mechanisms of the effects of cuproptosis-related genes in the cardiomyocytes of patients with diabetic heart failure: a bioinformatics analysis. | 50 |
| 33903593 | 2021 | PAX8 and MECOM are interaction partners driving ovarian cancer. | 49 |
| 35709354 | 2022 | Aberrant EVI1 splicing contributes to EVI1-rearranged leukemia. | 49 |
| 23349225 | 2013 | Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture. | 49 |
| 39103556 | 2024 | An activity-regulated transcriptional program directly drives synaptogenesis. | 44 |
| 36609474 | 2023 | A distal super-enhancer activates oncogenic ETS2 via recruiting MECOM in inflammatory bowel disease and colorectal cancer. | 42 |
| 35174083 | 2022 | MECOM/PRDM3 and PRDM16 Serve as Prognostic-Related Biomarkers and Are Correlated With Immune Cell Infiltration in Lung Adenocarcinoma. | 42 |
| 37090516 | 2023 | Rewiring of master transcription factor cistromes during high-grade serous ovarian cancer development. | 40 |
| 39427186 | 2024 | MECOM Locus classical transcript isoforms affect tumor immune microenvironment and different targets in ovarian cancer. | 40 |
| 36168636 | 2022 | DDX56 transcriptionally activates MIST1 to facilitate tumorigenesis of HCC through PTEN-AKT signaling. | 39 |
| 37422688 | 2023 | A phase 1/2 study of azacitidine, venetoclax and pevonedistat in newly diagnosed secondary AML and in MDS or CMML after failure of hypomethylating agents. | 39 |
| 39383458 | 2024 | Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy. | 38 |
| 38097206 | 2024 | Genome-wide association study of preserved ratio impaired spirometry (PRISm). | 36 |
| 38330144 | 2024 | Genetic Analysis of Obstructive Sleep Apnea and Its Relationship with Severe COVID-19. | 35 |
| 38748089 | 2024 | Outcome of 3q26.2/MECOM rearrangements in chronic myeloid leukemia. | 33 |
| 39576394 | 2024 | Systematic pan-cancer analysis of the prognostic value of MECOM in human cancer. | 33 |
| 37067177 | 2023 | Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes. | 32 |
| 38316746 | 2024 | Efficacy of novel agents against cellular models of familial platelet disorder with myeloid malignancy (FPD-MM). | 30 |
| 24309209 | 2014 | Zebrafish nephrogenesis is regulated by interactions between retinoic acid, mecom, and Notch signaling. | 29 |
| 38405662 | 2024 | The ETV6-MECOM fusion protein promotes EMT-related properties by repressing the transactivation activity of E-cadherin promoter in K562 leukemia cells. | 29 |
| 37230770 | 2023 | Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure. | 26 |
| 38245683 | 2024 | A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia. | 26 |
| 26935937 | 2016 | Persistent polyclonal binucleated B-cell lymphocytosis and MECOM gene amplification. | 24 |
| 38662475 | 2024 | Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion. | 23 |
| 38751957 | 2024 | A rare presentation of BCR-ABL1 and RUNX1-MECOM rearrangement in a pediatric patient with acute myeloid leukemia. | 17 |
| 35020829 | 2022 | Phenotypic heterogeneity in individuals with MECOM variants in 2 families. | 17 |
| 26834490 | 2016 | Expression of MECOM is associated with unfavorable prognosis in glioblastoma multiforme. | 16 |
| 31193989 | 2019 | Data on MECOM rearrangement-driven chromosomal aberrations in myeloid malignancies. | 9 |
| 39699291 | 2025 | Duplication of the Long Arm of Chromosome 3 Leads to MECOM Rearrangement in Acute Myeloid Leukemia. | 2 |
| 37407873 | 2023 | MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development. | 0 |
| 29146883 | 2018 | A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. | 0 |
| 28409341 | 2017 | Zebrafish Pronephros Development. | 0 |
| 39853740 | 2025 | Mechanisms of enhancer-driven oncogene activation. | 0 |
| 39187468 | 2024 | Modelling and drug targeting of a myeloid neoplasm with atypical 3q26/MECOM rearrangement using patient-specific iPSCs. | 0 |
| 35038958 | 2022 | MECOM gene overexpression in pediatric patients with acute myeloid leukemia. | 0 |
| 36861732 | 2023 | Validation of the prognostic significance of the 2022 European LeukemiaNet risk stratification system in intensive chemotherapy treated aged 18 to 65 years patients with de novo acute myeloid leukemia. | 0 |
| 37610030 | 2023 | A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure. | 0 |
| 38086946 | 2024 | Preclinical efficacy of targeting epigenetic mechanisms in AML with 3q26 lesions and EVI1 overexpression. | 0 |
| 35044164 | 2022 | MeCOM: A Method for Comparing Three-Dimensional Metalloenzyme Active Sites. | 0 |
| 21569010 | 2011 | EVI1-mediated down regulation of MIR449A is essential for the survival of EVI1 positive leukaemic cells. | 0 |
| 36951195 | 2023 | Identifying prognostic gene panels in acute myeloid leukemia. | 0 |
| 34958895 | 2022 | EVI1 protein interaction dynamics: Targetable for therapeutic intervention? | 0 |
| 38440890 | 2024 | MECOM: a bioinformatics and experimentally identified marker for the diagnosis and prognosis of lung adenocarcinoma. | 0 |
| 36095844 | 2023 | EVI1 drives leukemogenesis through aberrant ERG activation. | 0 |
| 34668265 | 2022 | Comparison of myeloid neoplasms with nonclassic 3q26.2/MECOM versus classic inv(3)/t(3;3) rearrangements reveals diverse clinicopathologic features, genetic profiles, and molecular mechanisms of MECOM activation. | 0 |
| 32219447 | 2020 | Atypical 3q26/MECOM rearrangements genocopy inv(3)/t(3;3) in acute myeloid leukemia. | 0 |
| 38962996 | 2024 | Acute myeloid leukemia (AML) with chromosome 3 inversion: biology, management, and clinical outcome. | 0 |
| 39316992 | 2024 | Germline genetic variants that predispose to myeloproliferative neoplasms and hereditary myeloproliferative phenotypes. | 0 |
| 34404532 | 2021 | Congenital amegakaryocytic thrombocytopenia - Not a single disease. | 0 |
| 35219593 | 2022 | MECOM-related disorder: Radioulnar synostosis without hematological aberration due to unique variants. | 0 |
| 31109591 | 2019 | Deciphering the complexities of MECOM rearrangement-driven chromosomal aberrations. | 0 |
| 38995475 | 2024 | CRISPR-Cas9-mediated deletion enhancer of MECOM play a tumor suppressor role in ovarian cancer. | 0 |
| 31554743 | 2019 | MECOM: A Very Interesting Gene Involved also in Lymphoid Malignancies. | 0 |
| 27438527 | 2016 | Molecular basis of inherited thrombocytopenias: an update. | 0 |
| 31820561 | 2020 | Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements. | 0 |
| 36332568 | 2022 | Vade-MECOM: How to peel back the layers of hematopoiesis. | 0 |
| 34974290 | 2022 | Newly designed breakapart FISH probe helps to identify cases with true MECOM rearrangement in myeloid malignancies. | 0 |
| 22372463 | 2012 | BCR-ABL1 tyrosine kinase sustained MECOM expression in chronic myeloid leukaemia. | 0 |
| 37585491 | 2023 | Phase I Results of Bromodomain and Extra-Terminal Inhibitor PLX51107 in Combination with Azacitidine in Patients with Relapsed/Refractory Myeloid Malignancies. | 0 |
| 29666008 | 2018 | H2AFY is a novel fusion partner of MECOM in acute myeloid leukemia. | 0 |
| 37996699 | 2024 | The urothelial gene regulatory network: understanding biology to improve bladder cancer management. | 0 |
| 39633068 | 2025 | HMX3 is a critical vulnerability in MECOM-negative KMT2A::MLLT3 acute myelomonocytic leukemia. | 0 |
| 26815134 | 2016 | Complex chromosomal rearrangements leading to MECOM overexpression are recurrent in myeloid malignancies with various 3q abnormalities. | 0 |
| 27620344 | 2017 | Intratumoral Heterogeneity of Frameshift Mutations in MECOM Gene is Frequent in Colorectal Cancers with High Microsatellite Instability. | 0 |
| 38811025 | 2024 | Evaluation of European LeukemiaNet 2022 risk classification in patients undergoing allogeneic haematopoietic stem cell transplantation for acute myeloid leukaemia: Identification of a very poor prognosis genetic group. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16342172 | 2006 | EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements. | Poppe B et al |
| 17507183 | 2007 | The oncogene and developmental regulator EVI1: expression, biochemical properties, and biological functions. | Wieser R et al |
Citation
Jean-Loup Huret
t(3;12)(q26;q21) ?/MECOM
Atlas Genet Cytogenet Oncol Haematol. 2007-05-01
Online version: http://atlasgeneticsoncology.org/haematological/1280/t(3;12)(q26;q21)-mecom
