Department of Hematology, the Second Affiliated Hospital of Wannan Medical College, Wuhu, China.
Department of Hematology, the First Affiliated Hospital of Soochow University, Soochow University, Suzhou, China.
Ann Clin Lab Sci. 2024 Jul;54(4):553-557.
Multiple myeloma (MM) and Acute myeloid leukemia (AML) are distinct hematologic malignancies originating from different cell lineages. Their coexistence is extremely rare, and current treatment approaches are even more so. Therefore, exploring the clinical features of their coexistence and the promising treatment strategy is worthwhile.
We described three cases involving the coexistence of MM and DNMT3A-mutant AML, two of which presented simultaneous occurrences, while Case 3 had secondary AML about 70 months after the MM.
All cases exhibited DNMT3A mutations, which characterized by one missense mutation and two frameshift mutations; all were likely loss of function mutations. Among them, two patients were treated with Venetoclax-based regimens and achieved favorable effects. The patients were alive for 62,38 and 103 months.
Clonal hematopoiesis of DNMT3A may have a crucial role in the coexistence of MM and AML and Venetoclax-based regimens reveal favorable treatment responses. However, drug resistance still needs to be considered, and further research is required to elucidate the underlying mechanisms and treatment strategies.
多发性骨髓瘤（MM）和急性髓系白血病（AML）是起源于不同细胞谱系的两种截然不同的血液系统恶性肿瘤。它们同时存在的情况极其罕见，目前的治疗方法更是如此。因此，探索它们同时存在的临床特征和有前途的治疗策略是值得的。
我们描述了三例 MM 合并 DNMT3A 突变型 AML 的病例，其中两例同时发生，而第 3 例在 MM 后约 70 个月发生继发性 AML。
所有病例均存在 DNMT3A 突变，表现为 1 个错义突变和 2 个移码突变，均可能为功能丧失性突变。其中 2 例患者接受 Venetoclax 为基础的治疗方案，取得了良好的效果。这 2 名患者的存活时间分别为 62、38 和 103 个月。
DNMT3A 的克隆性造血可能在 MM 和 AML 的共存中起关键作用，Venetoclax 为基础的治疗方案显示出良好的治疗反应。然而，仍需要考虑耐药性问题，需要进一步研究以阐明潜在的机制和治疗策略。
