Blood:克隆性造血在≥80老年人群中的发生率

2021-11-29 Nebula MedSci原创

特定的突变模式可将 80 岁以上人群发生髓系肿瘤与炎症相关疾病的风险进行分层

不确定潜能的克隆造血(CHIP)即,血液或骨髓中存在血液学恶性肿瘤相关突变,但无其他血液学恶性肿瘤诊断标准,与癌症风险增加相关,是一种炎症相关性疾病。该现象常见于 80 岁以上人群,但 CHIP 对 80 岁以上人群的影响尚不明确。

研究人员对 1794 位 80 岁以上的老年人进行了突变筛查,并研究了 CHIP 与相关病理之间的相关性。

常见基因突变在健康&贫血队列中的发生率

分析结果显示,三分之一的 80 岁以上的老年人检测到了相关突变;而且突变与其生存率降低有关。JAK2 和剪接基因突变、多重突变(DNMT3A、TET2 和 ASXL1)和变异等位基因频率 ≥0.096 都对髓系肿瘤具有阳性预测价值。

有无CHIP存在对健康&贫血队列受试者生存率的影响

将突变谱与红细胞指数异常相结合,可提高骨髓肿瘤预测的可靠性。在此基础上,研究人员定义了一个预测模型,该模型确定了 3 个具有不同发生髓系肿瘤概率的风险组。

不同风险组个体发生髓系肿瘤的累积发生率

DNMT3A、TET2、ASXL1 或 JAK2 基因突变与冠心病和类风湿性关节炎有关。血细胞减少症在 80 岁及以上人群中很常见,30% 的病例的潜在原因不明。在不明原因血细胞减少的个体中,高度特异性突变模式的存在与骨髓增生异常样表型相关,存活率与骨髓肿瘤相当。因此,7.5% 的 80 岁及以上的血细胞减少个体可推测具有髓系肿瘤。

总而言之,特定的突变模式可将 80 岁以上人群发生髓系肿瘤与炎症相关疾病的风险进行分层。在不明原因血细胞减少的个体中,突变状态有助于鉴别推测具有髓系肿瘤存在的个体。

原始出处:

Marianna Rossi, et al. Clinical relevance of clonal hematopoiesis in persons aged ≥80 years. Blood (2021) 138 (21): 2093–2105. https://doi.org/10.1182/blood.2021011320

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    2022-06-26 aids221
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    2021-12-01 辰余落雁

    老年患者癌变几率高

    0

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    2021-12-01 俅侠
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