JAK2V617F突变在鉴别真性红细胞增多症与特发性红细胞增多症中的应用价值。

Usefulness of JAK2V617F mutation in distinguishing idiopathic erythrocytosis from polycythemia vera.

作者信息

Rossi Davide, Cortini Francesca, Deambrogi Clara, Barbieri Caterina, Cerri Michaela, Franceschetti Silvia, Conconi Annarita, Capello Daniela, Gaidano Gianluca

机构信息

Division of Haematology, Department of Clinical and Experimental Medicine & IRCAD, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy.

出版信息

Leuk Res. 2007 Jan;31(1):97-101. doi: 10.1016/j.leukres.2006.02.027. Epub 2006 Apr 18.

DOI:10.1016/j.leukres.2006.02.027

PMID:16620973

Abstract

Idiopathic erythrocytosis (IE) is a primary erythrocytosis not fulfilling the criteria for polycythemia vera (PV) diagnosis. In order to verify the relationship between IE and PV, we screened JAK2V617F mutation in a consecutive series of 11 IE and, for comparison, in 15 PV. JAK2V617F mutation was screened by both cDNA sequencing and mutation specific PCR in both peripheral blood and bone marrow samples. All 11 IE tested negative for JAK2V617F mutation, which, conversely, occurred in 11/15 (73.3%) PV. Our results demonstrate that JAK2V617F is absent in IE and may represent a useful molecular marker for distinguishing IE from PV.

摘要

特发性红细胞增多症（IE）是一种不符合真性红细胞增多症（PV）诊断标准的原发性红细胞增多症。为了验证IE与PV之间的关系，我们对连续的11例IE患者进行了JAK2V617F突变筛查，并作为对照，对15例PV患者进行了筛查。通过cDNA测序和突变特异性PCR在外周血和骨髓样本中筛查JAK2V617F突变。所有11例IE患者的JAK2V617F突变检测均为阴性，相反，15例PV患者中有11例（73.3%）出现该突变。我们的结果表明，IE中不存在JAK2V617F，它可能是区分IE与PV的有用分子标志物。