通过二代测序（NGS）诊断出的12号外显子阳性真性红细胞增多症
Diagnosis of exon 12-positive polycythemia vera rescued by NGS.
作者信息
Geay Antoine, Aral Bernard, Bourgeois Valentin, Martin Pauline, Airaud Fabrice, Garrec Céline, Bézieau Stéphane, Gardie Betty, Girodon François
机构信息
Service d'Hématologie Biologique Pôle Biologie CHU de Dijon Dijon France.
Laboratoire de génétique chromosomique et moléculaire Pôle Biologie CHU de Dijon Dijon France.
出版信息
Clin Case Rep. 2020 Mar 21;8(5):790-792. doi: 10.1002/ccr3.2720. eCollection 2020 May.
Abstract
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.
摘要
与低血清促红细胞生成素相关的V617F阴性真性红细胞增多症需要检测第12外显子突变。若结果为阴性，鉴于真性红细胞增多症可能出现的严重并发症，有必要进行二代测序以排除假阴性结果。
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