Ahmed Arsalan, Chang Chung-Che Jeff
Department of Pathology and Laboratory Medicine, Baylor College of Medicine, Houston, Tex, USA.
Arch Pathol Lab Med. 2006 Aug;130(8):1133-43. doi: 10.5858/2006-130-1133-CIM.
Chronic idiopathic myelofibrosis (CIMF) is a clonal myeloproliferative disease characterized by panmyelosis with intact maturation, progressive bone marrow fibrosis, and multiorgan extramedullary hematopoiesis.
This review article aims to summarize the recent updates regarding the clinicopathologic features, molecular pathogenesis, cytogenetic abnormalities, diagnostic criteria, new diagnostic ancillary tests, and prognostic factors of CIMF.
Important relevant articles indexed in PubMed/MEDLINE (National Library of Medicine) through the end of 2005 and referenced medical texts.
Because CIMF has a variety of clinical presentations, diagnosis may be challenging; the prefibrotic stage of CIMF has always been a challenging disease for pathologists to diagnose accurately. The recently proposed European Clinical and Pathological criteria can be helpful in the diagnosis of CIMF, especially in its prefibrotic stage. The enumeration of CD34-positive cells in the peripheral blood and the presence of circulating endothelial progenitor cells are the new important ancillary tests for the diagnosis of a small subset of patients with CIMF with atypical presentation. The recent discovery of the new mutation affecting the Janus tyrosine kinase 2 (JAK2V617F), more frequently observed in patients with polycythemia vera, is seen in approximately 35% to 57% of patients with CIMF. This mutation can serve as another diagnostic tool. Important factors affecting prognosis in CIMF are anemia, age of the patient, white blood cell count, degree of fibrosis, and number of blasts in the peripheral blood.
慢性特发性骨髓纤维化（CIMF）是一种克隆性骨髓增殖性疾病，其特征为全髓增殖且成熟正常、进行性骨髓纤维化以及多器官髓外造血。
这篇综述文章旨在总结关于CIMF的临床病理特征、分子发病机制、细胞遗传学异常、诊断标准、新的诊断辅助检查以及预后因素的最新进展。
截至2005年底在PubMed/MEDLINE（国立医学图书馆）中索引的重要相关文章以及参考文献。
由于CIMF有多种临床表现，诊断可能具有挑战性；CIMF的纤维化前期一直是病理学家准确诊断的难题。最近提出的欧洲临床和病理标准有助于CIMF的诊断，尤其是在其纤维化前期。外周血中CD34阳性细胞的计数以及循环内皮祖细胞的存在是诊断一小部分非典型表现的CIMF患者的新的重要辅助检查。最近发现的影响Janus酪氨酸激酶2（JAK2V617F）的新突变，在真性红细胞增多症患者中更常见，在大约35%至57%的CIMF患者中可见。这种突变可作为另一种诊断工具。影响CIMF预后的重要因素是贫血、患者年龄、白细胞计数、纤维化程度以及外周血原始细胞数量。
