JAK2 p.V617F detection and allele burden measurement in peripheral blood and bone marrow aspirates in patients with myeloproliferative neoplasms.
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.
Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX;
Koichi
K
Takahashi
Keyur P
KP
Patel
Hagop
H
Kantarjian
Rajyalakshmi
R
Luthra
Sherry
S
Pierce
Jorge
J
Cortes
Srdan
S
Verstovsek
D000483:Alleles; D019943:Amino Acid Substitution; D001853:Bone Marrow / Q000378:metabolism; D006801:Humans; D053614:Janus Kinase 2 / Q000097:blood* / Q000235:genetics* / Q000378:metabolism; D016014:Linear Models; D050505:Mutant Proteins / Q000097:blood* / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000097:blood / Q000201:enzymology* / Q000235:genetics*; D011087:Polycythemia Vera / Q000097:blood / Q000201:enzymology / Q000235:genetics; D055728:Primary Myelofibrosis / Q000097:blood / Q000201:enzymology / Q000235:genetics; D015203:Reproducibility of Results; D012189:Retrospective Studies; D013920:Thrombocythemia, Essential / Q000097:blood / Q000201:enzymology / Q000235:genetics
D050505:Mutant Proteins; C507924:JAK2 protein, human; D053614:Janus Kinase 2