文章：

并发致病性融合基因白血病的发病率、遗传特征及预后：来自大队列白血病患者的25例分析

The incidence, genetic characteristics, and prognosis of leukemia with concurrent pathogenic fusion genes: a series of 25 cases from a large cohort of leukemia patients

原文发布日期：2019-10-23 

英文摘要：

Recurrent fusion genes (FGs) with clinical significances in leukemias are mainly mutually exclusive, and the coexistence of different FGs has been rarely reported. In this study, we retrospectively analyzed the incidence, genetic characteristics, and prognosis of leukemias with concurrent pathogenic FGs, which commonly reported in hematological malignancies in 8226 leukemia patients. A total of 25 patients with coexistence of double FGs were identified, accounting for 0.30% of all cases enrolled. More than half of the cases (14/25, 56%) were diagnosed as chronic myeloid leukemia in accelerated or blast phase, another six and five cases were acute myeloid leukemia and acute lymphocytic leukemia, respectively. Most cases (20/25, 80%) carried constitutively activated tyrosine kinases FGs (BCR-ABL1 or ETV6-PDGFRB) and transcription factors associated FGs simultaneously. Of the 11 patients with contemporaneous karyotype, 5 (45%) showed visible chromosomal abnormalities corresponding to both FGs. The concurrency of FGs was often associated with disease progressions. The prognosis was pessimistic for patients with concurrent FGs, even with the combination of targeted therapy and chemotherapy. Performing allogeneic hematopoietic stem cell transplantation as soon as possible after complete remission can ameliorate the dismal prognosis. 

摘要翻译： 

白血病中具有临床意义的复发融合基因（FGs）通常具有互斥性，不同FGs共存的现象较为罕见。本研究回顾性分析了8226例白血病患者中常见于血液恶性肿瘤的致病性FGs并存的发生率、遗传特征及预后。共发现25例双重FGs共存患者，占所有病例的0.30%。其中超过半数病例（14/25，56%）诊断为加速期或急变期慢性髓系白血病，另分别有6例和5例为急性髓系白血病和急性淋巴细胞白血病。大多数病例（20/25，80%）同时携带组成型激活的酪氨酸激酶FGs（BCR-ABL1或ETV6-PDGFRB）和转录因子相关FGs。在11例具有同期核型分析结果的患者中，5例（45%）显示出与两种FGs相对应的可见染色体异常。FGs共存常与疾病进展相关。即使采用靶向治疗联合化疗，共存FGs患者的预后仍不乐观。在完全缓解后尽早实施异基因造血干细胞移植可改善不良预后。

原文链接：

The incidence, genetic characteristics, and prognosis of leukemia with concurrent pathogenic fusion genes: a series of 25 cases from a large cohort of leukemia patients