BCR::ABL1阴性的骨髓增生性肿瘤（MPNs）是一组造血干/祖细胞获得性突变的恶性肿瘤，导致外周血中血细胞异常增多和骨髓纤维化。JAK2、MPL和CALR基因的突变在BCR::ABL1阴性MPNs中常见，检测这三个基因的典型突变已成为诊断BCR::ABL1阴性MPNs的重要手段。此外，使用大规模并行测序进行的全面基因突变和表达分析已经发现与BCR::ABL1阴性MPNs预后相关的基因突变，如ASXL1、EZH2、IDH1/2、SRSF2和U2AF1。此外，单细胞分析部分阐明了突变获取顺序对BCR::ABL1阴性MPNs表型的影响以及BCR::ABL1阴性MPNs发病机制。最近，研究发现在BCR::ABL1阴性MPNs的巨核细胞和血小板中特异性CREB3L1过表达，这可能对于诊断应用的开发具有远景性。在本综述中，我们描述了在BCR::ABL1阴性MPNs中发现的基因突变，包括我们小组进行的分析结果。

BCR::ABL1-negative myeloproliferative neoplasms (MPNs) are a group of hematopoietic malignancies in which somatic mutations are acquired in hematopoietic stem/progenitor cells, resulting in an abnormal increase in blood cells in peripheral blood and fibrosis in bone marrow. Mutations in JAK2, MPL, and CALR are frequently found in BCR::ABL1-negative MPNs, and detecting typical mutations in these three genes has become essential for the diagnosis of BCR::ABL1-negative MPNs. Furthermore, comprehensive gene mutation and expression analyses performed using massively parallel sequencing have identified gene mutations associated with the prognosis of BCR::ABL1-negative MPNs such as ASXL1, EZH2, IDH1/2, SRSF2, and U2AF1. Furthermore, single-cell analyses have partially elucidated the effect of the order of mutation acquisition on the phenotype of BCR::ABL1-negative MPNs and the mechanism of the pathogenesis of BCR::ABL1-negative MPNs. Recently, specific CREB3L1 overexpression has been identified in megakaryocytes and platelets in BCR::ABL1-negative MPNs, which may be promising for the development of diagnostic applications. In this review, we describe the genetic mutations found in BCR::ABL1-negative MPNs, including the results of analyses conducted by our group.