Hematology Division (RAF), University of Kentucky School of Medicine, Lexington, Kentucky; and the Veterans Affairs Medical Center (RAF), Lexington, Kentucky.
Am J Med Sci. 2013 Oct;346(4):328-30. doi: 10.1097/MAJ.0b013e31828c9df6.
The identification of Jak2(V617F) mutations in more than 90% of patients with polycythemia vera (PV) has greatly improved the diagnostic accuracy for this uncommon myeloproliferative disorder. Although previous cases of presumptive PV in patients with hereditary spherocytosis (HS) have been described, these earlier reports either preceded the establishment of widely accepted criteria for the diagnosis of PV or lacked definitive studies to rule out secondary causes of polycythemia. In contrast, the author describes here a novel case of PV confirmed at the molecular level in a patient with hereditary spherocytosis by the finding of a Jak2(V617F) mutation. Based on recent advances in understanding the role of Jak2 signaling in the pathogenesis of PV, the author proposes 2 independent biological mechanisms that could account for more than a chance association of these 2 disorders.
超过 90%的真性红细胞增多症（PV）患者存在 JAK2（V617F）突变，这极大地提高了这种罕见的骨髓增殖性疾病的诊断准确性。虽然以前曾有遗传性球形红细胞增多症（HS）患者疑似 PV 的病例报道，但这些早期报道要么早于 PV 诊断标准的确立，要么缺乏排除继发红细胞增多症的明确研究。相比之下，作者在这里描述了一个新的病例，在一名遗传性球形红细胞增多症患者中，通过发现 JAK2（V617F）突变，在分子水平上证实了 PV 的存在。基于对 JAK2 信号在 PV 发病机制中作用的最新认识，作者提出了 2 种独立的生物学机制，可以解释这两种疾病的偶然关联。
