Department of Hematology, Emergency Universitary Hospital Bucharest, 050098 Bucharest, Romania.
Oncol Rep. 2010 Mar;23(3):595-604. doi: 10.3892/or_00000674.
The Philadelphia negative chronic myeloproliferative neoplasms are hematological disorders with several diagnostic challenges. Due to recent molecular findings, the WHO classification of Tumors of Hematopoietic and Lymphoid Tissue 2008 reorganized the field of chronic myeloproliferative diseases. Thus, specific molecular markers provide important information for current diagnostic strategies. This review highlights the important diagnostic tools in classical and atypical myeloproliferative neoplasms mainly the JAK2V617F mutation, the Mpl receptor, Polycythemia rubra vera 1 (PRV1), platelet-derived growth-factor receptor alpha (PDGFRA), platelet-derived growth-factor receptor beta (PDGFRB), fibroblast growth-factor receptor 1 (FGFR1) and c-kit tyrosine kinase. A description of the origin, clinical correlations and role in diagnosis and therapy is provided for each of these molecular markers.
费城阴性慢性骨髓增殖性肿瘤是具有多种诊断挑战的血液系统疾病。由于最近的分子发现，2008 年世界卫生组织造血和淋巴组织肿瘤分类重新组织了慢性骨髓增殖性疾病领域。因此，特定的分子标志物为当前的诊断策略提供了重要信息。这篇综述重点介绍了经典和非典型骨髓增殖性肿瘤中的重要诊断工具，主要是 JAK2V617F 突变、mpl 受体、真性红细胞增多症 1 (PRV1)、血小板衍生生长因子受体α (PDGFRA)、血小板衍生生长因子受体β (PDGFRB)、成纤维细胞生长因子受体 1 (FGFR1)和 c-kit 酪氨酸激酶。对这些分子标志物的起源、临床相关性以及在诊断和治疗中的作用进行了描述。
