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

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