t(2;3)(p15-23;q26-27) ?/MECOM
2005-08-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
2.Clinical Cytogeneticist, UMC St. Radboud, Dept. Human Genetics, Div. Cytogenetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
Clinics and Pathology
Disease
Myeloid malignancies: myelodysplastic syndrome (MDS) in 1/4 of cases, with various FAB diagnoses (refractory anaemia (RA), RA with ringed sideroblasts (RARS), RA with excess of blasts (RAEB), RAEB in transformation (RAEB-t), and chronic myelomonocytic leukemia (CMML)), acute myeloid leukaemia (AML) in 60% of cases (M2-AML in 1/4 of all cases), blast crisis of a chronic myelogenous leukaemia (BC-CML) in about 10% of cases
Etiology
1/4 of cases were therapy related leukemias, and 10% were BC-CML cases
Epidemiology
At least 50 cases described; sex ratio: 1.33 M/F; median age around 50 yrs, most patients being between 30 and 70 yr old (range 3-80 yrs).
Cytology
High platelet count, dysmegakaryopoiesis, and multilineage dysplasia in 80 to 90% of cases
Prognosis
Median survival 12 months (range 1-53 mths), with a few patients surviving with bone marrow transplantation.
Cytogenetics
Note
Heterogeneous breakpoints by cytogenetic and FISH analysis; FISH mapping of 2p breakpoints was very heterogeneous ranging from p14 or p15 to p23; FISH mapping of the 3q breakpoint was within the EVI1-MDS region (between RP11-694D5 (centromeric) and RP11-362K14 (telomeric) in the great majority of cases.
Additional anomalies
Sole anomaly in 40%, associated with -7 in 30%, with del(5q) in 15%, with del(7q) in 10%, with t(9;22)(q34;q11) in 10%, and with a complex karyotype in 20% of cases.
Genes Involved and Proteins
Note
Molecular analysis has been performed in only a very few cases. In most of these, ectopic expression of EVI1 was demonstrated, but rare cases seem not to involve this gene. Therefore, characteristics of EVI1 involvement (high platelet count, multilineage dysplasia, monosomy 7, prior history of carcinogen exposure and a poor prognosis) may not be present in further cases with apparently the same breakpoints.
The gene(s) involved in chromosome 2 is/are unknown
The gene(s) involved in chromosome 2 is/are unknown
Gene name
MECOM (Ecotropic Viral Integration Site 1 (EVI1) and Myelodysplastic Syndrome 1 (MDS1-EVI1)
Location
3q26.2
Note
There is a direct correlation between mapping of the 3q breakpoint in the above given EVI1-MDS region and EVI1 ectopic expression by RT-PCR. Rare case with 3q break outside this interval failed to show ectopic expression of EVI1.
Dna rna description
EVI1 contains 12 exons.
Protein description
EVI1 may play an important role in organogenesis, cell migration, cell growth, and differentiation.
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 |
| 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 |
| 36609474 | 2023 | A distal super-enhancer activates oncogenic ETS2 via recruiting MECOM in inflammatory bowel disease and colorectal cancer. | 42 |
| 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 |
| 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 |
| 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 |
| 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 |
| 40204525 | 2025 | RUNX1::MECOM rearrangement in myeloid neoplasm post cytotoxic therapy following sarcoma treatment: a case presentation and review of the literature. | 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 |
| 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 |
|---|---|---|---|
| 8931999 | 1996 | Cytogenetic analysis in patients with primary myelodysplastic syndromes in leukaemic transformation. A report on 94 cases. Groupe Français de Cytogénétique Hématologique (GFCH). | |
| 6690021 | 1984 | Preliminary data on the in vitro proliferation pattern and karyotypic characteristics in cells of patients with ANLL. | Barbieri D et al |
| 7889504 | 1995 | Translocation (2;3)(p22;q28) is associated with myeloid disorders. | Berger R et al |
| 4063525 | 1985 | Rearrangements of chromosome 3 involving bands 3q21 and 3q26 are associated with normal or elevated platelet counts in acute nonlymphocytic leukemia. | Bitter MA 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 |
| 2013977 | 1991 | Molecular diagnosis of Philadelphia negative CML using the polymerase chain reaction and DNA analysis: clinical features and course of M-bcr negative and M-bcr positive CML. | Dobrovic A et al |
| 8625269 | 1996 | Translocation (2;3)(p13;q26) in two cases of myeloid malignancies. Acute myeloblastic leukemia (M2) and blastic phase of chronic myeloid leukemia. | Fleischman EW et al |
| 10198625 | 1999 | Translocation (2;3)(p21;q26) as the sole anomaly in a case of primary myelofibrosis. | Herens C et al |
| 8683992 | 1996 | Abberant cytogenetic evolution pattern of Philadelphia-positive chronic myeloid leukemia treated with interferon-alpha. | Johansson B et al |
| 1555200 | 1992 | t(2;3)(p13;q26) in a case of chronic myeloid leukemia. Importance of the involvement of 3q26. | Kwong YL et al |
| 8616064 | 1996 | t(2;3)(p23;q26) in a patient with AML M2. | Levaltier X et al |
| 11964274 | 2002 | Distinct clinical outcomes for cytogenetic abnormalities evolving from aplastic anemia. | Maciejewski JP et al |
| 6575860 | 1983 | 3q-, 3q+ anomaly in malignant proliferations in humans. | Mecucci C et al |
| 11979548 | 2002 | Spectral karyotyping in patients with acute myeloid leukemia and a complex karyotype shows hidden aberrations, including recurrent overrepresentation of 21q, 11q, and 22q. | Mrózek K et al |
| 10779995 | 2000 | Secondary leukemia in a child with neuroblastoma while on oral etoposide: what is the cause? | Ng A et al |
| 7272506 | 1981 | Nonrandom chromosome abnormalities in acute leukemia and dysmyelopoietic syndromes in patients with previously treated malignant disease. | Rowley JD et al |
| 15085164 | 2004 | Translocation t(2;3)(p15-23;q26-27) in myeloid malignancies: report of 21 new cases, clinical, cytogenetic and molecular genetic features. | Stevens-Kroef M et al |
| 3891074 | 1985 | The 5q-anomaly. | Van den Berghe H et al |
| 3337904 | 1988 | Cytogenetic studies in patients with secondary leukemia/dysmyelopoietic syndrome after different treatment modalities. | Whang-Peng J et al |
| 6692334 | 1984 | Recurrent chromosomal defects are found in most patients with acute nonlymphocytic leukemia. | Yunis JJ et al |
| 8652379 | 1996 | Cytogenetic clonality analysis: typical patterns in myelodysplastic syndrome and acute myeloid leukaemia. | van Lom K et al |
Summary
Note
There are 2 subtypes of the t(2p;3q); in one type the breakpoint on chromosome 2 is assigned to bands 2p21-23, whereas the breakpoint for the other type of breakpoint is localized at 2p15-21.
Partial GTG (Marian Stevens-Kroef, left) and RFA (Anne Hagemeijer, right) banded karyotypes of t(2;3)( p15-23;q26-27) with the distal (A) and proximal (B) breakpoint on chromosome 2.
Citation
Jean-Loup Huret
t(2;3)(p15-23;q26-27) ?/MECOM
Atlas Genet Cytogenet Oncol Haematol. 2005-08-01
Online version: http://atlasgeneticsoncology.org/haematological/1274/t(2
Historical Card
2004-05-01 t(2;3)(p15-23;q26-27) ?/MECOM by Marian Stevens-Kroef Affiliation
Clinical Cytogeneticist, UMC St. Radboud, Dept. Human Genetics, Div. Cytogenetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
