Abstract：
Chromothripsis refers to massive genomic rearrangements developed during a catastrophic event. In total acute myeloid leukemia (AML), the incidence of chromothripsis ranges from 0 to 6.6%, in cases of complex karyotype AML, the incidence of chromothripsis ranges from 27.3 to 100%, whereas in cases of AML with TP53 mutations, the incidence ranges from 11.1 to 90%. For other types of malignancies, the incidence of chromothripsis also varies, from 0 to 10.5% in myelodysplastic syndrome to up to 61.5% in cases of myelodysplastic syndrome with TP53 mutations.Chromothripsis is typically associated with complex karyotypes and TP53 mutations, and monosomal karyotypes are associated with the condition. ERG amplifications are frequently noted in cases of chromothripsis, whereas MYC amplifications are not. Moreover, FLT3 and NPM1 mutations are negatively associated with chromothripsis. Chromothripsis typically occurs in older patients with AML with low leukocyte counts and bone marrow blast counts. Rare cases of patients with chromothripsis who received intensive induction chemotherapy revealed low response rates and poor overall prognosis. Signal pathways in chromothripsis typically involve copy number gain and upregulation of oncogene gene sets that promote cancer growth and a concomitant copy number loss and downregulation of gene sets associated with tumor suppression functions.Patients with chromothripsis showed a trend of lower complete remission rate and worse overall survival in myeloid malignancy. Large-scale studies are required to further elucidate the causes and treatments of the condition.
摘要：
嗜铬细胞增多是指在灾难性事件期间发生的大量基因组重排。在急性髓细胞性白血病（AML）中，色素沉着的发生率从0到6.6%不等，在复杂核型AML的情况下，色素沉着的发生率从27.3到100%不等，而在具有TP53突变的AML病例中，发病率从11.1%到90%不等。对于其他类型的恶性肿瘤，染色体的发生率也各不相同，从0到10.5％在骨髓增生异常综合征中，在TP53突变的骨髓增生异常综合征病例中高达61.5％。嗜铬细胞增多症通常与复杂核型和TP53突变有关，和单体核型与病情有关。ERG扩增经常在色素沉着症的情况下被注意到，而MYC扩增不是。此外，FLT3和NPM1突变与染色体异常呈负相关。嗜铬细胞增多症通常发生在白细胞计数和骨髓母细胞计数低的老年AML患者中。接受强化诱导化疗的罕见色素沉着患者反应率低，总体预后差。染色体中的信号通路通常涉及促进癌症生长的癌基因集的拷贝数增加和上调，以及伴随的拷贝数丢失和与肿瘤抑制功能相关的基因集的下调。在骨髓性恶性肿瘤中，具有色素沉着症的患者表现出完全缓解率较低和总体生存率较差的趋势。需要进行大规模研究以进一步阐明该病症的原因和治疗方法。
