Janus kinase 2 V617F mutation in an unrelated peripheral blood stem cell donor

• Main Authors: Shang-Hsien Yang, Hsiang-Lin Wan, Ming-Hui Gu, Tso-Fu Wang
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2019-01-01
• Series: Tzu-Chi Medical Journal
• Subjects: Granulocyte colony-stimulating factor; Janus kinase 2 V617F mutation; Peripheral blood stem cell harvest; Polycythemia vera; Unrelated donor
• Online Access: http://www.tcmjmed.com/article.asp?issn=1016-3190;year=2019;volume=31;issue=1;spage=60;epage=62;aulast=Yang
• ISSN: 1016-3190; 2223-8956

Polycythemia vera (PV) is relatively uncommon in early adulthood, and evidence about the prevalence of the Janus kinase 2 (JAK2) V617F mutation in the general population is limited. Here, we report a previously healthy volunteer peripheral blood stem cell (PBSC) donor who developed symptomatic PV with the JAK2 V617F mutation 2 years after PBSC mobilization and harvest. The characteristic mutation was identified retrospectively in the blood sample of the donor at the confirmation typing stage, which was before granulocyte colony-stimulating factor injection. This report presents a safety issue for both donor and recipient of hematopoietic stem cell transplantation. Clinicians should be aware of this during health workup and postdonation follow-up of unrelated PBSC donors. Any abnormal and/or equivocal laboratory data, especially during the donor workup stage, should not be overlooked.