6533b834fe1ef96bd129d8aa

RESEARCH PRODUCT

Diagnosis of exon 12‐positive polycythemia vera rescued by NGS

Stéphane BézieauFrançois GirodonFabrice AiraudBernard AralValentin BourgeoisAntoine GeayCéline GarrecPauline MartinBetty GardieBetty Gardie

subject

lcsh:MedicineCase ReportCase Reports030204 cardiovascular system & hematologyDNA sequencing03 medical and health sciencesExon0302 clinical medicinePolycythemia veraExon 12polycythemia verahemic and lymphatic diseasesmedicineerythrocytosisnext generation sequencinglcsh:R5-920business.industryJak2 mutationlcsh:RGeneral Medicinemedicine.diseaseVirologyJAK2030220 oncology & carcinogenesisbusinesslcsh:Medicine (General)

description

Abstract 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.

10.1002/ccr3.2720https://doaj.org/article/0257b774e5884d29a1542b05c93e699b