JAK2 p.V617F detection and allele burden measurement in peripheral blood and bone marrow aspirates in patients with myeloproliferative neoplasms

被引：27

作者：

Takahashi, Koichi ^{[1
,2
]}

Patel, Keyur P. ^{[3
]}

Kantarjian, Hagop ^{[4
]}

Luthra, Rajyalakshmi ^{[2
]}

Pierce, Sherry ^{[4
]}

Cortes, Jorge ^{[4
]}

Verstovsek, Srdan ^{[4
]}

机构：

[1] Univ Texas Houston, MD Anderson Canc Ctr, Div Canc Med, Houston, TX 77030 USA

[2] Kyoto Univ, Dept Hematol & Oncol, Grad Sch Med, Kyoto, Japan

[3] Univ Texas Houston, MD Anderson Canc Ctr, Dept Hematopathol, Houston, TX 77030 USA

[4] Univ Texas Houston, MD Anderson Canc Ctr, Dept Leukemia, Houston, TX 77030 USA

来源：

BLOOD | 2013年 / 122卷 / 23期

关键词：

STEM-CELL TRANSPLANTATION; POLYCYTHEMIA-VERA; ESSENTIAL THROMBOCYTHEMIA; MUTATION; V617F; MYELOFIBROSIS;

D O I：

10.1182/blood-2013-07-515676

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Detection of the JAK2 p.V617F mutation and measurement of its allele burden can be performed using both peripheral blood (PB) and bone marrow (BM) samples from patients with myeloproliferative neoplasms (MPNs). However, the diagnostic accuracy of detecting the JAK2 p.V617F mutation and quantifying its allele burden in PB and BM samples has not been systematically compared. We retrospectively analyzed 388 patients with MPN who had been tested for JAK2 p.V617F allele burden using both PB and BM samples within 3 months of each other. The sensitivity and specificity of detecting JAK2 p.V617F in PB when compared with BM were both 100%. Furthermore, the JAK2 p.V617F allele burden measured in PB and BM were equivalent by linear regression analysis (R-2 = 0.991; P < .0001). We therefore conclude that PB is a reliable source for testing for the JAK2 p.V617F mutation and quantifying its allele burden in patients with MPN.

引用

收藏

页码：3784 / 3786

页数：3

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