Venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation
Kashima, Emiko ; Sugimoto, Yuka ; Nagaharu, Keiki LU
; Ohya, Eiko
; Ikejiri, Makoto
; Watanabe, Yasuyuki
; Kageyama, Shinichi
; Oka, Koji
and Tawara, Isao
(2024)
In Hematology
29(1).
- Abstract
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... (More)
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.
(Less)
- author
- Kashima, Emiko
; Sugimoto, Yuka
; Nagaharu, Keiki
LU
; Ohya, Eiko
; Ikejiri, Makoto
; Watanabe, Yasuyuki
; Kageyama, Shinichi
; Oka, Koji
and Tawara, Isao
- publishing date
- 2024-12
- type
- Contribution to journal
- publication status
- published
- keywords
- Humans, Leukemia, Myelomonocytic, Chronic/drug therapy, Core Binding Factor Alpha 2 Subunit/genetics, Male, Aged, Bridged Bicyclo Compounds, Heterocyclic/therapeutic use, Mutation, Sulfonamides/therapeutic use, Azacitidine/therapeutic use, Antineoplastic Agents/therapeutic use
- in
- Hematology
- volume
- 29
- issue
- 1
- article number
- 2392908
- publisher
- Informa Healthcare
- external identifiers
-
- scopus:85201681689
- pmid:39163269
- ISSN
- 1607-8454
- DOI
- 10.1080/16078454.2024.2392908
- language
- English
- LU publication?
- no
- id
- 4196a0db-60ab-467b-94f0-635b2803f4be
- date added to LUP
- 2026-01-07 11:04:39
- date last changed
- 2026-01-08 12:32:10
@article{4196a0db-60ab-467b-94f0-635b2803f4be,
abstract = {{<p>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.</p>}},
author = {{Kashima, Emiko and Sugimoto, Yuka and Nagaharu, Keiki and Ohya, Eiko and Ikejiri, Makoto and Watanabe, Yasuyuki and Kageyama, Shinichi and Oka, Koji and Tawara, Isao}},
issn = {{1607-8454}},
keywords = {{Humans; Leukemia, Myelomonocytic, Chronic/drug therapy; Core Binding Factor Alpha 2 Subunit/genetics; Male; Aged; Bridged Bicyclo Compounds, Heterocyclic/therapeutic use; Mutation; Sulfonamides/therapeutic use; Azacitidine/therapeutic use; Antineoplastic Agents/therapeutic use}},
language = {{eng}},
number = {{1}},
publisher = {{Informa Healthcare}},
series = {{Hematology}},
title = {{Venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation}},
url = {{http://dx.doi.org/10.1080/16078454.2024.2392908}},
doi = {{10.1080/16078454.2024.2392908}},
volume = {{29}},
year = {{2024}},
}