Venetoclax is effective for chronic myelomonocytic leukemia blastic transformation with RUNX1 mutation.

IF 2 4区 医学 Q3 HEMATOLOGY
Hematology Pub Date : 2024-12-01 Epub Date: 2024-08-20 DOI:10.1080/16078454.2024.2392908
Emiko Kashima, Yuka Sugimoto, Keiki Nagaharu, Eiko Ohya, Makoto Ikejiri, Yasuyuki Watanabe, Shinichi Kageyama, Koji Oka, Isao Tawara
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引用次数: 0

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 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.

Venetoclax 对 RUNX1 基因突变的慢性粒细胞白血病浆细胞转化有效。
背景:慢性粒单核细胞白血病是一种克隆性血液病,有转化为急性髓性白血病的固有风险。最近,慢性粒单核细胞白血病患者中分子异常的发现呈指数级增长。其中一些基因突变可单独导致较高的转化风险,并导致较低的总生存率。目前,针对慢性粒单核细胞白血病爆发性转化患者的治疗策略非常有限,尤其是在使用低甲基化药物治疗后病情出现进展的患者:我们报告了一例 70 岁男性慢性粒单核细胞白血病暴发性转化患者的病例,该患者在接受阿扎胞苷单药治疗后发生了 RUNX1 突变。值得注意的是,他在接受第一个疗程的 Venetoclax 加阿扎胞苷治疗后获得了血液学完全缓解,导致 RUNX1 突变消失。在他的整个临床过程中,我们通过新一代测序技术进行了一系列分子分析评估:结论:RUNX1突变的存在与慢性粒细胞白血病伴凋亡性转化患者对基于文尼他赛的联合疗法的较高反应率有关。我们的研究结果表明,即使在阿扎胞苷单药治疗后,venetoclax加阿扎胞苷也能有效靶向携带RUNX1突变的白血病克隆。此外,我们还强调了分子分析(包括新一代测序)在深入了解克隆演变的详细动态和指导治疗决策方面的重要意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Hematology
Hematology 医学-血液学
CiteScore
2.60
自引率
5.30%
发文量
140
审稿时长
3 months
期刊介绍: Hematology is an international journal publishing original and review articles in the field of general hematology, including oncology, pathology, biology, clinical research and epidemiology. Of the fixed sections, annotations are accepted on any general or scientific field: technical annotations covering current laboratory practice in general hematology, blood transfusion and clinical trials, and current clinical practice reviews the consensus driven areas of care and management.
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