Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1495-1498 |
| Number of pages | 4 |
| Journal | JNCCN Journal of the National Comprehensive Cancer Network |
| Volume | 14 |
| Issue number | 12 |
| State | Published - Dec 1 2016 |
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ASJC Scopus subject areas
- Oncology
Cite this
A polycythemia vera JAK2 mutation masquerading as a duodenal cancer mutation. / Lee, Justin; Axilbund, Jennifer; Dalton, William; Laheru, Daniel; Watkins, Stanley; Chu, David; Cravero, Karen; Button, Berry; Kyker-Snowman, Kelly; Waters, Ian; Gocke, Christopher; Lauring, Josh; Park, Ben Ho.
In: JNCCN Journal of the National Comprehensive Cancer Network, Vol. 14, No. 12, 01.12.2016, p. 1495-1498.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A polycythemia vera JAK2 mutation masquerading as a duodenal cancer mutation
AU - Lee, Justin
AU - Axilbund, Jennifer
AU - Dalton, William
AU - Laheru, Daniel
AU - Watkins, Stanley
AU - Chu, David
AU - Cravero, Karen
AU - Button, Berry
AU - Kyker-Snowman, Kelly
AU - Waters, Ian
AU - Gocke, Christopher
AU - Lauring, Josh
AU - Park, Ben Ho
PY - 2016/12/1
Y1 - 2016/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85006056573&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85006056573&partnerID=8YFLogxK
M3 - Article
C2 - 27956534
AN - SCOPUS:85006056573
VL - 14
SP - 1495
EP - 1498
JO - Journal of the National Comprehensive Cancer Network : JNCCN
JF - Journal of the National Comprehensive Cancer Network : JNCCN
SN - 1540-1405
IS - 12
ER -