Venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation
Background: Chronic myelomonocytic leukemia is a clonal hematological disorder with an inherent risk of transformation to acute myeloid leukemia. Recently, there has been exponential discovery of molecular abnormalities in patients with chronic myelomonocytic leukemia. Some of these mutations indepe...
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Taylor & Francis Group
2024-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2024.2392908 |
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| author | Emiko Kashima Yuka Sugimoto Keiki Nagaharu Eiko Ohya Makoto Ikejiri Yasuyuki Watanabe Shinichi Kageyama Koji Oka Isao Tawara |
| author_facet | Emiko Kashima Yuka Sugimoto Keiki Nagaharu Eiko Ohya Makoto Ikejiri Yasuyuki Watanabe Shinichi Kageyama Koji Oka Isao Tawara |
| author_sort | Emiko Kashima |
| collection | DOAJ |
| description | Background: Chronic myelomonocytic leukemia is a clonal hematological disorder with an inherent risk of transformation to acute myeloid leukemia. Recently, there has been exponential discovery of molecular abnormalities in patients with chronic myelomonocytic leukemia. Some of these mutations independently contribute to a higher risk of transformation and result in inferior overall survival. Treatment strategies for patients undergoing blastic transformation in chronic myelomonocytic leukemia, especially after progressing on hypomethylating agents, are currently limited.Case presentation: We present a case of a 70-year-old male patient with chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation following azacitidine monotherapy. Notably, he achieved hematological complete remission after the first course of venetoclax plus azacitidine, leading to the disappearance of RUNX1 mutation. We performed serial assessments of molecular analysis by next generation sequencing throughout his clinical course.Conclusion: The presence of RUNX1 mutation is associated with higher response rates to venetoclax-based combination therapies in chronic myelomonocytic leukemia with blastic transformation. Our findings suggest that even after azacitidine monotherapy, venetoclax plus azacitidine is effective in targeting leukemic clones harboring RUNX1 mutations. Furthermore, we emphasize the significance of molecular analysis, including next-generation sequencing, in providing insights into the detailed dynamics of clonal evolution and guiding treatment decisions. |
| format | Article |
| id | doaj-art-f5d85abe6c814d99beee17cf8fcec58c |
| institution | Kabale University |
| issn | 1607-8454 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj-art-f5d85abe6c814d99beee17cf8fcec58c2024-12-12T15:08:53ZengTaylor & Francis GroupHematology1607-84542024-12-0129110.1080/16078454.2024.2392908Venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with RUNX1 mutationEmiko Kashima0Yuka Sugimoto1Keiki Nagaharu2Eiko Ohya3Makoto Ikejiri4Yasuyuki Watanabe5Shinichi Kageyama6Koji Oka7Isao Tawara8Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, JapanDepartment of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, JapanDepartment of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, JapanDepartment of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, JapanDepartment of Clinical Laboratory, Mie University Hospital, Tsu, JapanDepartment of Hematology, Suzuka Kaisei Hospital, Suzuka, JapanDepartment of Hematology, Suzuka Kaisei Hospital, Suzuka, JapanDepartment of Hematology, Suzuka Kaisei Hospital, Suzuka, JapanDepartment of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, JapanBackground: Chronic myelomonocytic leukemia is a clonal hematological disorder with an inherent risk of transformation to acute myeloid leukemia. Recently, there has been exponential discovery of molecular abnormalities in patients with chronic myelomonocytic leukemia. Some of these mutations independently contribute to a higher risk of transformation and result in inferior overall survival. Treatment strategies for patients undergoing blastic transformation in chronic myelomonocytic leukemia, especially after progressing on hypomethylating agents, are currently limited.Case presentation: We present a case of a 70-year-old male patient with chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation following azacitidine monotherapy. Notably, he achieved hematological complete remission after the first course of venetoclax plus azacitidine, leading to the disappearance of RUNX1 mutation. We performed serial assessments of molecular analysis by next generation sequencing throughout his clinical course.Conclusion: The presence of RUNX1 mutation is associated with higher response rates to venetoclax-based combination therapies in chronic myelomonocytic leukemia with blastic transformation. Our findings suggest that even after azacitidine monotherapy, venetoclax plus azacitidine is effective in targeting leukemic clones harboring RUNX1 mutations. Furthermore, we emphasize the significance of molecular analysis, including next-generation sequencing, in providing insights into the detailed dynamics of clonal evolution and guiding treatment decisions.https://www.tandfonline.com/doi/10.1080/16078454.2024.2392908Chronic myelomonocytic leukemiablastic transformationvenetoclaxRUNX1next-generation sequencing |
| spellingShingle | Emiko Kashima Yuka Sugimoto Keiki Nagaharu Eiko Ohya Makoto Ikejiri Yasuyuki Watanabe Shinichi Kageyama Koji Oka Isao Tawara Venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation Hematology Chronic myelomonocytic leukemia blastic transformation venetoclax RUNX1 next-generation sequencing |
| title | Venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation |
| title_full | Venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation |
| title_fullStr | Venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation |
| title_full_unstemmed | Venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation |
| title_short | Venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation |
| title_sort | venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with runx1 mutation |
| topic | Chronic myelomonocytic leukemia blastic transformation venetoclax RUNX1 next-generation sequencing |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2024.2392908 |
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