Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

Antoine GeayBernard AralValentin BourgeoisPauline MartinFabrice AiraudCéline GarrecStéphane BézieauBetty GardieFrancois Girodon

Published in: Clinical case reports (2020)

A JAK2V617F-negative polycythemia associated with low serum epo needs to be tested for an exon 12 JAK2 mutation. When negative, due to potential serious complications in PV, a next generation sequencing is necessary to rule out false negative results.

Keyphrases

risk factors
copy number
gene expression
dna methylation
climate change
genome wide
circulating tumor cells