Somatic mutations occur spontaneously in normal individuals and accumulate throughout life. These genetic modifications contribute to progressive ageing phenotypes and are directly involved in cancer development. However, a growing number of studies of Mendelian haematopoietic disorders indicate that somatic genetic events can offset the pathogenic effect of germline mutations at the cellular level, leading to genetic mosaicism and, in some cases, resulting in a milder disease phenotype. Notably, spontaneous genetic events that confer a positive effect on cells do not always benefit the individual, for whom the effects can be neutral or even clinically detrimental. These somatic genetic rescue events have important diagnostic, therapeutic and clinical consequences and constitute valuable models for studying the differentiation and/or homeostasis of haematopoietic lineages.

中文翻译：

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孟德尔造血疾病中的体细胞遗传拯救。

体细胞突变在正常个体中自发发生并在整个生命中累积。这些基因修饰有助于进行性衰老表型，并直接参与癌症发展。然而，越来越多的孟德尔造血疾病研究表明，体细胞遗传事件可以在细胞水平上抵消种系突变的致病作用，导致遗传嵌合，在某些情况下，导致更温和的疾病表型。值得注意的是，对细胞产生积极影响的自发遗传事件并不总是对个体有益，对个体而言，这些影响可能是中性的，甚至在临床上是有害的。这些体细胞基因拯救事件具有重要的诊断意义，