真性红细胞增多症或特发性红细胞增多症中的JAK2外显子12突变。

JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis.

作者信息

Martínez-Avilés Luz, Besses Carles, Alvarez-Larrán Alberto, Cervantes Francisco, Hernández-Boluda Juan Carlos, Bellosillo Beatriz

机构信息

Department of Pathology, Hospital del Mar, IMAS, Barcelona, Spain.

出版信息

Haematologica. 2007 Dec;92(12):1717-8. doi: 10.3324/haematol.12011.

DOI:10.3324/haematol.12011

PMID:18056003

Abstract

JAK2 exon 12 mutations were detected in 4 out of 20 polycythemia vera and idiopathic erythrocytosis V617F-negative patients and were only present in the myeloid lineage. Initial hematologic data of these patients differ from those of V617F-positive patients, but there is no difference in thrombotic development and myelofibrotic transformation.

摘要

在20例真性红细胞增多症和V617F阴性的特发性红细胞增多症患者中，有4例检测到JAK2外显子12突变，且仅存在于髓系谱系中。这些患者的初始血液学数据与V617F阳性患者不同，但在血栓形成发展和骨髓纤维化转化方面没有差异。