t(3;5)(q26;q34) ?/MECOM
2007-07-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Acute myeloid leukaemia (AML)
Epidemiology
Only two cases to date, a 48 year old female patient and a male patient of unknown age, both with M2 AML
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 |
| 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 |
| 39103556 | 2024 | An activity-regulated transcriptional program directly drives synaptogenesis. | 44 |
| 34436017 | 2021 | 3q26 Amplifications in Cervical Squamous Carcinomas. | 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 |
| 39427186 | 2024 | MECOM Locus classical transcript isoforms affect tumor immune microenvironment and different targets in ovarian cancer. | 40 |
| 37090516 | 2023 | Rewiring of master transcription factor cistromes during high-grade serous ovarian cancer development. | 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 |
| 38662349 | 2024 | High throughput screening aids clinical decision-making in refractory acute myeloid leukaemia. | 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 |
| 36578597 | 2023 | A family case series of inherited thrombocytopenia. | 13 |
| 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 |
| 38440890 | 2024 | MECOM: a bioinformatics and experimentally identified marker for the diagnosis and prognosis of lung adenocarcinoma. | 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 |
| 36095844 | 2023 | EVI1 drives leukemogenesis through aberrant ERG 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 |
| 31554743 | 2019 | MECOM: A Very Interesting Gene Involved also in Lymphoid Malignancies. | 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 |
| 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 |
| 27438527 | 2016 | Molecular basis of inherited thrombocytopenias: an update. | 0 |
| 31820561 | 2020 | Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements. | 0 |
| 34974290 | 2022 | Newly designed breakapart FISH probe helps to identify cases with true MECOM rearrangement in myeloid malignancies. | 0 |
| 36332568 | 2022 | Vade-MECOM: How to peel back the layers of hematopoiesis. | 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 |
| 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 |
| 29666008 | 2018 | H2AFY is a novel fusion partner of MECOM in acute myeloid leukemia. | 0 |
| 26815134 | 2016 | Complex chromosomal rearrangements leading to MECOM overexpression are recurrent in myeloid malignancies with various 3q abnormalities. | 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 |
| 27620344 | 2017 | Intratumoral Heterogeneity of Frameshift Mutations in MECOM Gene is Frequent in Colorectal Cancers with High Microsatellite Instability. | 0 |
| 30503564 | 2019 | Molecular and pathologic characterization of AML with double Inv(3)(q21q26.2). | 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 |
| 11934387 | 2002 | Cytogenetic analysis in 139 Tunisian patients with de novo acute myeloid leukemia. | Sendi HS et al |
| 17507183 | 2007 | The oncogene and developmental regulator EVI1: expression, biochemical properties, and biological functions. | Wieser R et al |
Summary
t(3;5)(q26;q34) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.
Citation
Jean-Loup Huret
t(3;5)(q26;q34) ?/MECOM
Atlas Genet Cytogenet Oncol Haematol. 2007-07-01
Online version: http://atlasgeneticsoncology.org/haematological/1278/t(3;5)(q26;q34)-mecom
