生漆相关的伴有多重打击突变的家族性慢性粒单核细胞白血病
Raw lacquer-associated familial chronic myelomonocytic leukemia with multi-hit mutations.
作者信息
Zhang Yang, Luo Yujiao, Peng Hongling, Yin Yafei, Zhang Guangsen
机构信息
Department of Oncology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Department of Hematology, Institute of Molecular Hematology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
出版信息
Front Oncol. 2025 Aug 22;15:1605369. doi: 10.3389/fonc.2025.1605369. eCollection 2025.
BACKGROUND
To explore the potential association between long-term exposure to raw lacquer and the development of chronic myelomonocytic leukemia (CMML).
METHODS
We analyzed the clinical and hematological characteristics of an elderly couple with CMML. Whole-exome sequencing (WES) was performed to identify relevant gene variants, with a focus on mutation status.
RESULTS
Two unrelated CMML patients within the same family, both with over 40 years of raw lacquer exposure, developed CMML. WES revealed that both patients harbored multi-hit gene mutations and lacked mutations. Both demonstrated relative sensitivity to hydroxyurea or hypomethylating agent (HMA) therapy. Unaffected family members lacked significant raw lacquer exposure.
CONCLUSIONS
Long-term exposure to raw lacquer may be associated with the onset of familial CMML. CMML patients with multi-hit mutations in the absence of mutations may have a favorable prognosis.
背景
探讨长期接触生漆与慢性粒单核细胞白血病（CMML）发生之间的潜在关联。
方法
我们分析了一对患有CMML的老年夫妇的临床和血液学特征。进行全外显子组测序（WES）以鉴定相关基因变异，重点关注 突变状态。
结果
同一家族中的两名无血缘关系的CMML患者，均有超过40年的生漆接触史，均患CMML。WES显示两名患者均存在多重打击基因突变且缺乏 突变。两者对羟基脲或去甲基化药物（HMA）治疗均表现出相对敏感性。未受影响的家庭成员无明显生漆接触史。
结论
长期接触生漆可能与家族性CMML的发病有关。在无 突变情况下具有多重打击 突变的CMML患者可能预后良好。
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