A Polycythemia Vera JAK2 Mutation Masquerading as a Duodenal Cancer Mutation

作者：Lee Justin; Axilbund Jennifer; Dalton W Brian; Laheru Daniel; Watkins Stanley; Chu David; Cravero Karen; Button Berry; Kyker Snowman Kelly; Waters Ian; Gocke Christopher D; Lauring Josh^*; Park Ben Ho^*

来源：Journal of the National Comprehensive Cancer Network, 2016, 14(12): 1495-1498.

DOI：10.6004/jnccn.2016.0161

Next-generation sequencing (NGS) is increasingly being used in cancer care to identify both somatic tumor driver mutations that can be targeted for therapy, and heritable mutations in the germline associated with increased cancer risk. This report presents a case of a JAK2 V617F mutation falsely identified as a duodenal cancer mutation via NGS. The patient was found to have a history of polycythemia vera, a disorder with a high incidence of JAK2 somatic mutations. Buccal cell DNA showed heterozygosity for the mutation, suggesting that it was potentially germline. However, subsequent resequencing of tumor, adjacent normal tissue, and fingernail DNA confirmed the mutation was somatic, and its presence in tumor and buccal cells resulted from contaminating blood cells. This report highlights important nuances of NGS that can lead to misinterpretation of results with potential clinical implications.

• 出版日期2016-12