t(3;17)(q26;q22) ?/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
Chronic myelogenous leukaemia with t(9;22)(q34;q11) and blast crisis of CML (BC-CML) (4 cases altogether), other myeloproliferative syndromes, Acute myeloid leukaemia (AML) in 4 cases (one M1, 2 therapy related AML,one of which after breast cancer).
Epidemiology
At least 9 cases to date, aged 62 years (medain, range: 49-78); sex ration was 5M/3F.
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 |
|---|---|---|---|
| 41129068 | 2025 | A tour of leukemia progress in 2025, viewed through the MD Anderson leukemia research lens. | 238 |
| 33909629 | 2021 | Bioinformatic analysis linking genomic defects to chemosensitivity and mechanism of action. | 132 |
| 37810550 | 2023 | EVI1-mediated Programming of Normal and Malignant Hematopoiesis. | 118 |
| 41095756 | 2025 | A Mutational Landscape in Acute Myeloid Leukemia: Overview and Prognostic Impacts. | 118 |
| 37676768 | 2023 | Determinants of motor neuron functional subtypes important for locomotor speed. | 105 |
| 41419472 | 2025 | Thrombopoietin increases susceptibility for EVI1 + KMT2A-MLLT3-driven AML expressing stem cell genes linked to poor outcome. | 99 |
| 37091189 | 2023 | Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle. | 99 |
| 37566057 | 2023 | TGFβ Inhibitor A83-01 Enhances Murine HSPC Expansion for Gene Therapy. | 98 |
| 38834613 | 2024 | Orthogonal proteogenomic analysis identifies the druggable PA2G4-MYC axis in 3q26 AML. | 96 |
| 33579957 | 2021 | The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms. | 87 |
| 39803492 | 2024 | CEBPA repression by MECOM blocks differentiation to drive aggressive leukemias. | 86 |
| 35132438 | 2022 | PRDM paralogs antagonistically balance Wnt/β-catenin activity during craniofacial chondrocyte differentiation. | 86 |
| 35949554 | 2022 | MECOM promotes supporting cell proliferation and differentiation in cochlea. | 81 |
| 39148824 | 2024 | Genetics of Cardiac Aging Implicate Organ-Specific Variation. | 81 |
| 35107126 | 2022 | The EDA-deficient mouse has Zymbal's gland hypoplasia and acute otitis externa. | 78 |
| 39227582 | 2024 | Efficient generation of human NOTCH ligand-expressing haemogenic endothelial cells as infrastructure for in vitro haematopoiesis and lymphopoiesis. | 77 |
| 36802703 | 2023 | Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program. | 77 |
| 39680456 | 2024 | Evi1 governs Kdm6b-mediated histone demethylation to regulate the Laptm4b-driven mTOR pathway in hematopoietic progenitor cells. | 73 |
| 41283235 | 2025 | MECOM-Rearranged Acute Myeloid Leukemia: Pathobiology and Management Strategies. | 69 |
| 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 |
| 39853740 | 2026 | Mechanisms of enhancer-driven oncogene activation. | 62 |
| 35581546 | 2022 | Machine learning approach informs biology of cancer drug response. | 62 |
| 37705244 | 2023 | Myelodysplasia after clonal hematopoiesis with APOBEC3-mediated CYBB inactivation in retroviral gene therapy for X-CGD. | 61 |
| 42086934 | 2026 | MECOM promotes leukemia progression and inhibits mast cell differentiation through functional competition with GATA2. | 59 |
| 40991835 | 2025 | CEBPA repression by MECOM blocks differentiation to drive aggressive leukemias. | 58 |
| 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 |
| 36916780 | 2023 | RNA sequencing of myeloid sarcoma, shed light on myeloid sarcoma stratification. | 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 |
| 39468462 | 2024 | MECOM and the PRDM gene family in uterine endometrial cancer: bioinformatics and experimental insights into pathogenesis and therapeutic potentials. | 52 |
| 38086946 | 2024 | Preclinical efficacy of targeting epigenetic mechanisms in AML with 3q26 lesions and EVI1 overexpression. | 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 |
| 35709354 | 2022 | Aberrant EVI1 splicing contributes to EVI1-rearranged leukemia. | 49 |
| 33903593 | 2021 | PAX8 and MECOM are interaction partners driving ovarian cancer. | 49 |
| 35008106 | 2022 | Genome-wide DNA methylation analysis in pediatric acute myeloid leukemia. | 45 |
| 39103556 | 2024 | An activity-regulated transcriptional program directly drives synaptogenesis. | 44 |
| 34436017 | 2021 | 3q26 Amplifications in Cervical Squamous Carcinomas. | 44 |
| 40983567 | 2025 | MECOM fusion partner and bone marrow blast percentage influence outcomes of patients with MECOM rearranged acute myeloid leukaemia. | 40 |
| 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 |
| 39383458 | 2024 | Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy. | 38 |
| 40421449 | 2025 | What Is Acute Myeloid Leukemia? | 37 |
| 38097206 | 2024 | Genome-wide association study of preserved ratio impaired spirometry (PRISm). | 36 |
| 38748089 | 2024 | Outcome of 3q26.2/MECOM rearrangements in chronic myeloid leukemia. | 33 |
| 41340866 | 2025 | MECOM amplified endometrial cancer, a novel subset of copy number high tumors associated with poor prognosis. | 32 |
| 40453057 | 2024 | Real-world outcomes of newly diagnosed AML treated with venetoclax and azacitidine or low-dose cytarabine in the UK NHS. | 31 |
| 38316746 | 2024 | Efficacy of novel agents against cellular models of familial platelet disorder with myeloid malignancy (FPD-MM). | 30 |
| 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 |
| 38662475 | 2024 | Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion. | 23 |
| 37904382 | 2023 | A primary pediatric acute myelomonocytic leukemia with t(3;21)(q26;q22): A case report. | 19 |
| 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 |
| 36264026 | 2023 | Secondary fusion proteins as a mechanism of BCR::ABL1 kinase-independent resistance in chronic myeloid leukaemia. | 15 |
| 36578597 | 2023 | A family case series of inherited thrombocytopenia. | 13 |
| 31193989 | 2019 | Data on MECOM rearrangement-driven chromosomal aberrations in myeloid malignancies. | 9 |
| 40250419 | 2025 | Fate and state transitions during human blood vessel organoid development. | 0 |
| 28409341 | 2017 | Zebrafish Pronephros Development. | 0 |
| 38962996 | 2024 | Acute myeloid leukemia (AML) with chromosome 3 inversion: biology, management, and clinical outcome. | 0 |
| 37407873 | 2023 | MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development. | 0 |
| 40105906 | 2025 | Therapeutic horizon of acute myeloid leukemia: Success, optimism, and challenges. | 0 |
| 40138453 | 2025 | Identification and characterization of human retinal stem cells capable of retinal regeneration. | 0 |
| 38440890 | 2024 | MECOM: a bioinformatics and experimentally identified marker for the diagnosis and prognosis of lung adenocarcinoma. | 0 |
| 39316992 | 2024 | Germline genetic variants that predispose to myeloproliferative neoplasms and hereditary myeloproliferative phenotypes. | 0 |
| 36095844 | 2023 | EVI1 drives leukemogenesis through aberrant ERG activation. | 0 |
| 37610030 | 2023 | A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure. | 0 |
| 41060369 | 2025 | MECOM is a master repressor of myeloid differentiation through dose control of CEBPA in acute myeloid leukemia. | 0 |
| 29146883 | 2018 | A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. | 0 |
| 35044164 | 2022 | MeCOM: A Method for Comparing Three-Dimensional Metalloenzyme Active Sites. | 0 |
| 35219593 | 2022 | MECOM-related disorder: Radioulnar synostosis without hematological aberration due to unique variants. | 0 |
| 35038958 | 2022 | MECOM gene overexpression in pediatric patients with acute myeloid leukemia. | 0 |
| 33078873 | 2021 | Rare and novel RUNX1 fusions in myeloid neoplasms: A single-institute experience. | 0 |
| 36332568 | 2022 | Vade-MECOM: How to peel back the layers of hematopoiesis. | 0 |
| 31554743 | 2019 | MECOM: A Very Interesting Gene Involved also in Lymphoid Malignancies. | 0 |
| 34958895 | 2022 | EVI1 protein interaction dynamics: Targetable for therapeutic intervention? | 0 |
| 41935723 | 2026 | Genetic variation at the MECOM locus shaping human disease pathogenesis. | 0 |
| 40829482 | 2025 | Targeting growth signals in leukemia: A case of mistaken identity. | 0 |
| 38296260 | 2024 | Promoter-centred chromatin interactions associated with EVI1 expression in EVI1+3q- myeloid leukaemia cells. | 0 |
| 42217833 | 2026 | Optical genome mapping in myeloid neoplasms. | 0 |
| 36951195 | 2023 | Identifying prognostic gene panels in acute myeloid leukemia. | 0 |
| 31109591 | 2019 | Deciphering the complexities of MECOM rearrangement-driven chromosomal aberrations. | 0 |
| 32219447 | 2020 | Atypical 3q26/MECOM rearrangements genocopy inv(3)/t(3;3) in acute myeloid leukemia. | 0 |
| 35484980 | 2022 | A novel MECOM variant associated with congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. | 0 |
| 34404532 | 2021 | Congenital amegakaryocytic thrombocytopenia - Not a single disease. | 0 |
| 27438527 | 2016 | Molecular basis of inherited thrombocytopenias: an update. | 0 |
| 37914237 | 2023 | [The role of SF3B1 mutations in EVI1-rearranged myeloid neoplasms]. | 0 |
| 31820561 | 2020 | Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements. | 0 |
| 40204525 | 2025 | RUNX1::MECOM rearrangement in myeloid neoplasm post cytotoxic therapy following sarcoma treatment: a case presentation and review of the literature. | 0 |
| 39613598 | 2024 | The role of MECOM in thoracic aortic aneurysms: New insights from integrated bioinformatics analyses. | 0 |
| 39141018 | 2024 | A novel FNDC3B::MECOM fusion gene accompanied with Der(5; 17)(p10; q10) in acute myelocytic leukemia. | 0 |
| 36279927 | 2023 | Retinoic acid control of pax8 during renal specification of Xenopus pronephros involves hox and meis3. | 0 |
| 39097287 | 2024 | [Advances in genetic research on Non-syndromic congenital joint synostosis]. | 0 |
| 38787666 | 2024 | MECOM: A Meta-Completion Network for Fine-Grained Recognition With Incomplete Multi-Modalities. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12393383 | 2003 | High EVI1 expression predicts poor survival in acute myeloid leukemia: a study of 319 de novo AML patients. | Barjesteh van Waalwijk van Doorn-Khosrovani S et al |
| 11960392 | 2002 | Structural rearrangements of chromosome 3 in 57 patients with acute myeloid leukemia: clinical, hematological and cytogenetic features. | Charrin C et al |
| 6722753 | 1984 | Translocation t(3;17)(q26;q22): a marker of acute disease in myeloproliferative disorders? | Mecucci C et al |
| 1591713 | 1992 | New case of t(3;17)(q26;q22) as an additional change in a Philadelphia-positive chronic myelogenous leukemia in acceleration. | Mugneret F et al |
| 7579462 | 1995 | Different genetic pathways in leukemogenesis for patients presenting with therapy-related myelodysplasia and therapy-related acute myeloid leukemia. | Pedersen-Bjergaard J et al |
| 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 |
Summary
Location
pour K-PRONE
t(3;17)(q26;q22) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.
Citation
Jean-Loup Huret
t(3;17)(q26;q22) ?/MECOM
Atlas Genet Cytogenet Oncol Haematol. 2007-07-01
Online version: http://atlasgeneticsoncology.org/haematological/1282/t(3
