Diagnosis of exon 12-positive polycythemia vera rescued by NGS.
Fiche publication
Date publication
mai 2020
Journal
Clinical case reports
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GIRODON François
Tous les auteurs :
Geay A, Aral B, Bourgeois V, Martin P, Airaud F, Garrec C, Bézieau S, Gardie B, Girodon F
Lien Pubmed
Résumé
A V617F-negative polycythemia associated with low serum epo needs to be tested for an exon 12 mutation. When negative, due to potential serious complications in PV, a next generation sequencing is necessary to rule out false negative results.
Mots clés
Exon 12, JAK2, erythrocytosis, next generation sequencing, polycythemia vera
Référence
Clin Case Rep. 2020 May;8(5):790-792