Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, University of Adelaide, Adelaide, SA, Australia; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia; Department of Haematology and Genetic Pathology, Flinders University and Medical Centre, Adelaide, SA, Australia.
Myeloproliferative Neoplasms Working Party, Australasian Leukaemia and Lymphoma Group, Melbourne, Vic, Australia; Department of Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, University of Adelaide, Adelaide, SA, Australia.
Pathology. 2021 Apr;53(3):339-348. doi: 10.1016/j.pathol.2021.01.003. Epub 2021 Mar 3.
Myeloproliferative neoplasms are characterised by somatic mutations in pathways that regulate cell proliferation, epigenetic modifications, RNA splicing or DNA repair. Assessment of the mutational profile assists diagnosis and classification, but also aids assessment of prognosis, and may guide the use of emerging targeted therapies. The most practical way to provide information on numerous genetic variants is by using massively parallel sequencing, commonly in the form of disease specific next generation sequencing (NGS) panels. This review summarises the diagnostic and prognostic value of somatic mutation testing in Philadelphia-negative myeloproliferative neoplasms: polycythaemia vera, essential thrombocythaemia, primary myelofibrosis, chronic neutrophilic leukaemia, systemic mastocytosis, and chronic eosinophilic leukaemia. NGS panel testing is increasing in routine practice and promises to improve the accuracy and efficiency of pathological diagnosis and prognosis.
骨髓增殖性肿瘤的特征是调节细胞增殖、表观遗传修饰、RNA 剪接或 DNA 修复的途径中的体细胞突变。突变谱的评估有助于诊断和分类，也有助于评估预后，并可能指导新兴靶向治疗的应用。提供大量遗传变异信息的最实用方法是使用大规模平行测序，通常是以疾病特异性的下一代测序 (NGS) 面板的形式。本综述总结了体细胞突变检测在费城阴性骨髓增殖性肿瘤中的诊断和预后价值：真性红细胞增多症、特发性血小板增多症、原发性骨髓纤维化、慢性中性粒细胞白血病、系统性肥大细胞增多症和慢性嗜酸性粒细胞白血病。NGS 面板检测在常规实践中越来越普及，并有望提高病理诊断和预后的准确性和效率。
