Yoshida Kenichi
Division of Cancer Evolution, National Cancer Center Research Institute, Tokyo, Japan.
Int J Hematol. 2024 Dec 6. doi: 10.1007/s12185-024-03878-x.
After recent advances in sequencing technologies led to the discovery of novel genes associated with predisposition to hematological malignancies, studies have now shown that myeloid neoplasms associated with germline variants are more common than previously estimated. Based on these findings, myeloid neoplasms with germline predisposition have emerged as a unique category in the recent World Health Organization classification of Haematolymphoid Tumors. Clonal hematopoiesis is common in healthy individuals, particularly in older people. In patients with germline predisposition to hematological malignancies, clonal hematopoiesis is frequently observed at younger ages and is often associated with unique disease-specific driver mutations, some of which are hypothesized to compensate for the inherited defect. This review summarizes recent findings on clonal hematopoiesis in cancer predisposition syndromes.
随着测序技术的最新进展导致发现了与血液系统恶性肿瘤易感性相关的新基因，现在研究表明，与种系变异相关的髓系肿瘤比以前估计的更为常见。基于这些发现，具有种系易感性的髓系肿瘤在世界卫生组织最近的血液淋巴肿瘤分类中已成为一个独特的类别。克隆性造血在健康个体中很常见，尤其是在老年人中。在具有血液系统恶性肿瘤种系易感性的患者中，克隆性造血在较年轻时经常被观察到，并且通常与独特的疾病特异性驱动突变相关，其中一些突变被假设为补偿遗传缺陷。本综述总结了癌症易感性综合征中克隆性造血的最新发现。
