急性髓系白血病 (AML) 是一种异质性血液恶性肿瘤，与基因突变、表观遗传异常和染色体重排相关基因融合的各种组合相关。尽管其发病机制存在显着的异质性，但许多基因融合和点突变在 AML 中反复出现，并且在过去几十年中已被用于风险分层。基因融合长期以来一直被认为可以理解肿瘤发生及其在临床诊断和靶向治疗中的作用。 DNA 测序技术和计算生物学的进步为已知融合基因的检测以及新融合基因的发现做出了重大贡献。 AML 中一些反复出现的基因融合与预后、治疗反应和疾病进展有关。在本报告中，我们介绍了一个具有长期原发性血小板增多症病史和标志性 CALR 突变转化为 AML 的病例，其特征是以前未报道的 AKAP9::PDGFRA 融合基因。我们提出了这种融合可能有助于 AML 发病机制及其作为酪氨酸激酶抑制剂分子靶标的潜力。© 2024 作者。

Acute myeloid leukemia (AML) is a heterogeneous hematological malignancy associated with various combinations of gene mutations, epigenetic abnormalities, and chromosome rearrangement-related gene fusions. Despite the significant degree of heterogeneity in its pathogenesis, many gene fusions and point mutations are recurrent in AML and have been employed in risk stratification over the last several decades. Gene fusions have long been recognized for understanding tumorigenesis and their proven roles in clinical diagnosis and targeted therapies. Advances in DNA sequencing technologies and computational biology have contributed significantly to the detection of known fusion genes as well as for the discovery of novel ones. Several recurring gene fusions in AML have been linked to prognosis, treatment response, and disease progression. In this report, we present a case with a long history of essential thrombocythemia and hallmark CALR mutation transforming to AML characterized by a previously unreported AKAP9::PDGFRA fusion gene. We propose mechanisms by which this fusion may contribute to the pathogenesis of AML and its potential as a molecular target for tyrosine kinase inhibitors.© 2024 The Author(s).