6533b834fe1ef96bd129d8aa
RESEARCH PRODUCT
Diagnosis of exon 12‐positive polycythemia vera rescued by NGS
Stéphane BézieauFrançois GirodonFabrice AiraudBernard AralValentin BourgeoisAntoine GeayCéline GarrecPauline MartinBetty GardieBetty Gardiesubject
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.
year | journal | country | edition | language |
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2020-03-21 | Clinical Case Reports |