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Ci Ji Yi Xue Za Zhi. 2019 Jan-Mar;31(1):60-62. doi: 10.4103/tcmj.tcmj_189_17.

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

Author information

1
Department of Pediatrics, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.
2
Buddhist Tzu Chi Stem Cells Center, Hualien, Taiwan.
3
Department of Hematology and Oncology, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei, Taiwan.
4
Department of Laboratory Medicine, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.
5
Department of Hematology and Oncology, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.

Abstract

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.

KEYWORDS:

Granulocyte colony-stimulating factor; Janus kinase 2 V617F mutation; Peripheral blood stem cell harvest; Polycythemia vera; Unrelated donor

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