Diagnosis of exon 12-positive polycythemia vera rescued by NGS

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TitreDiagnosis of exon 12-positive polycythemia vera rescued by NGS
Type de publicationJournal Article
Year of Publication2020
AuteursGeay A, Aral B, Bourgeois V, Martin P, Airaud F, Garrec C, Bezieau S, Gardie B, Girodon F
JournalCLINICAL CASE REPORTS
Volume8
Pagination790-792
Date PublishedMAY
Type of ArticleArticle
ISSN2050-0904
Mots-cléserythrocytosis, Exon 12, JAK2, next generation sequencing, polycythemia vera
Résumé

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.

DOI10.1002/ccr3.2720, Early Access Date = {MAR 2020