RUNX1::MECOM rearrangement in myeloid neoplasm post cytotoxic therapy following sarcoma treatment: a case presentation and review of the literature
Objectives Myeloid neoplasms occurring after cytotoxic therapy (MN-pCT), previously termed therapy-related myelodysplastic neoplasia (MDS) or therapy-related acute myelogenous leukemia (AML), pose significant treatment challenges due to high resistance, poor chemotherapy tolerance, and relapse.Metho...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2025-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2025.2483094 |
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| author | Miriam Sandnes Øystein Sefland Irini Ktoridou-Valen Rakel Brendsdal Forthun Hilde Kollsete Gjelberg Lars Henrik Dahl Hamnvik Håkon Reikvam Tor Henrik Andersson Tvedt |
| author_facet | Miriam Sandnes Øystein Sefland Irini Ktoridou-Valen Rakel Brendsdal Forthun Hilde Kollsete Gjelberg Lars Henrik Dahl Hamnvik Håkon Reikvam Tor Henrik Andersson Tvedt |
| author_sort | Miriam Sandnes |
| collection | DOAJ |
| description | Objectives Myeloid neoplasms occurring after cytotoxic therapy (MN-pCT), previously termed therapy-related myelodysplastic neoplasia (MDS) or therapy-related acute myelogenous leukemia (AML), pose significant treatment challenges due to high resistance, poor chemotherapy tolerance, and relapse.Methods We present a 73-year-old woman with therapy-related AML following treatment for myxofibrosarcoma, characterized by the rare RUNX1::MECOM fusion resulting from a t(3;21)(q26;q22) chromosomal translocation. We also review the current literature regarding cases of this rare translocation.Results The patient, previously treated with chemotherapy and radiotherapy for sarcoma, was diagnosed with pancytopenia and hypoplastic bone marrow with increased blasts. Cytogenetic analysis confirmed RUNX1::MECOM fusion. Furthermore, we discuss the molecular mechanisms underlying MECOM rearrangements, specifically the role of the EVI1 oncogene. AML associated with MECOM rearrangements is associated with poor prognosis and resistance to conventional therapies. While allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains the only potential curative treatment, the high relapse rate limits its efficacy. Recent advancements in understanding the molecular drivers of MECOM-related AML suggest potential therapeutic strategies, including hypomethylating agents and novel combinations such as lenalidomide.Conclusion this case and literature review emphasizes the importance of long-term monitoring of cancer survivors treated with cytotoxic therapies, as well as awareness of rare translocations in MN-pCT. |
| format | Article |
| id | doaj-art-c27cc24c48a14d8f80f40b72aa561b47 |
| institution | OA Journals |
| issn | 1607-8454 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj-art-c27cc24c48a14d8f80f40b72aa561b472025-08-20T02:16:44ZengTaylor & Francis GroupHematology1607-84542025-12-0130110.1080/16078454.2025.2483094RUNX1::MECOM rearrangement in myeloid neoplasm post cytotoxic therapy following sarcoma treatment: a case presentation and review of the literatureMiriam Sandnes0Øystein Sefland1Irini Ktoridou-Valen2Rakel Brendsdal Forthun3Hilde Kollsete Gjelberg4Lars Henrik Dahl Hamnvik5Håkon Reikvam6Tor Henrik Andersson Tvedt7Section for Hematology, Department of Medicine, Haukeland University Hospital, Bergen, NorwaySection for Hematology, Department of Medicine, Haukeland University Hospital, Bergen, NorwaySection for Hematology, Department of Medicine, Haukeland University Hospital, Bergen, NorwayDepartment for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, NorwayDepartment of Pathology, Haukeland University Hospital, Bergen, NorwaySection for Hematology, Institute of Clinical Medicine, University of Oslo, Oslo, NorwaySection for Hematology, Department of Medicine, Haukeland University Hospital, Bergen, NorwaySection for Hematology, Institute of Clinical Medicine, University of Oslo, Oslo, NorwayObjectives Myeloid neoplasms occurring after cytotoxic therapy (MN-pCT), previously termed therapy-related myelodysplastic neoplasia (MDS) or therapy-related acute myelogenous leukemia (AML), pose significant treatment challenges due to high resistance, poor chemotherapy tolerance, and relapse.Methods We present a 73-year-old woman with therapy-related AML following treatment for myxofibrosarcoma, characterized by the rare RUNX1::MECOM fusion resulting from a t(3;21)(q26;q22) chromosomal translocation. We also review the current literature regarding cases of this rare translocation.Results The patient, previously treated with chemotherapy and radiotherapy for sarcoma, was diagnosed with pancytopenia and hypoplastic bone marrow with increased blasts. Cytogenetic analysis confirmed RUNX1::MECOM fusion. Furthermore, we discuss the molecular mechanisms underlying MECOM rearrangements, specifically the role of the EVI1 oncogene. AML associated with MECOM rearrangements is associated with poor prognosis and resistance to conventional therapies. While allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains the only potential curative treatment, the high relapse rate limits its efficacy. Recent advancements in understanding the molecular drivers of MECOM-related AML suggest potential therapeutic strategies, including hypomethylating agents and novel combinations such as lenalidomide.Conclusion this case and literature review emphasizes the importance of long-term monitoring of cancer survivors treated with cytotoxic therapies, as well as awareness of rare translocations in MN-pCT.https://www.tandfonline.com/doi/10.1080/16078454.2025.2483094acute myeloid leukemiaRUNX1::MECOMmyeloid neoplasms post-cytotoxic therapyimmunphenotypetranslocationfusion transcript |
| spellingShingle | Miriam Sandnes Øystein Sefland Irini Ktoridou-Valen Rakel Brendsdal Forthun Hilde Kollsete Gjelberg Lars Henrik Dahl Hamnvik Håkon Reikvam Tor Henrik Andersson Tvedt RUNX1::MECOM rearrangement in myeloid neoplasm post cytotoxic therapy following sarcoma treatment: a case presentation and review of the literature Hematology acute myeloid leukemia RUNX1::MECOM myeloid neoplasms post-cytotoxic therapy immunphenotype translocation fusion transcript |
| title | RUNX1::MECOM rearrangement in myeloid neoplasm post cytotoxic therapy following sarcoma treatment: a case presentation and review of the literature |
| title_full | RUNX1::MECOM rearrangement in myeloid neoplasm post cytotoxic therapy following sarcoma treatment: a case presentation and review of the literature |
| title_fullStr | RUNX1::MECOM rearrangement in myeloid neoplasm post cytotoxic therapy following sarcoma treatment: a case presentation and review of the literature |
| title_full_unstemmed | RUNX1::MECOM rearrangement in myeloid neoplasm post cytotoxic therapy following sarcoma treatment: a case presentation and review of the literature |
| title_short | RUNX1::MECOM rearrangement in myeloid neoplasm post cytotoxic therapy following sarcoma treatment: a case presentation and review of the literature |
| title_sort | runx1 mecom rearrangement in myeloid neoplasm post cytotoxic therapy following sarcoma treatment a case presentation and review of the literature |
| topic | acute myeloid leukemia RUNX1::MECOM myeloid neoplasms post-cytotoxic therapy immunphenotype translocation fusion transcript |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2025.2483094 |
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