Diagnosis of exon 12‐positive polycythemia vera rescued by NGS

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.

Detalles Bibliográficos
Autores principales: Geay, Antoine, Aral, Bernard, Bourgeois, Valentin, Martin, Pauline, Airaud, Fabrice, Garrec, Céline, Bézieau, Stéphane, Gardie, Betty, Girodon, François
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250982/
https://www.ncbi.nlm.nih.gov/pubmed/32477518
http://dx.doi.org/10.1002/ccr3.2720
Descripción
Sumario: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.

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