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
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author Geay, Antoine
Aral, Bernard
Bourgeois, Valentin
Martin, Pauline
Airaud, Fabrice
Garrec, Céline
Bézieau, Stéphane
Gardie, Betty
Girodon, François
author_facet Geay, Antoine
Aral, Bernard
Bourgeois, Valentin
Martin, Pauline
Airaud, Fabrice
Garrec, Céline
Bézieau, Stéphane
Gardie, Betty
Girodon, François
author_sort Geay, Antoine
collection PubMed
description 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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spelling pubmed-72509822020-05-29 Diagnosis of exon 12‐positive polycythemia vera rescued by NGS Geay, Antoine Aral, Bernard Bourgeois, Valentin Martin, Pauline Airaud, Fabrice Garrec, Céline Bézieau, Stéphane Gardie, Betty Girodon, François Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-03-21 /pmc/articles/PMC7250982/ /pubmed/32477518 http://dx.doi.org/10.1002/ccr3.2720 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Geay, Antoine
Aral, Bernard
Bourgeois, Valentin
Martin, Pauline
Airaud, Fabrice
Garrec, Céline
Bézieau, Stéphane
Gardie, Betty
Girodon, François
Diagnosis of exon 12‐positive polycythemia vera rescued by NGS
title Diagnosis of exon 12‐positive polycythemia vera rescued by NGS
title_full Diagnosis of exon 12‐positive polycythemia vera rescued by NGS
title_fullStr Diagnosis of exon 12‐positive polycythemia vera rescued by NGS
title_full_unstemmed Diagnosis of exon 12‐positive polycythemia vera rescued by NGS
title_short Diagnosis of exon 12‐positive polycythemia vera rescued by NGS
title_sort diagnosis of exon 12‐positive polycythemia vera rescued by ngs
topic Case Reports
url 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
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