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Pediatr Blood Cancer. 2008 Nov;51(5):689-91. doi: 10.1002/pbc.21659.

JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I.

Author information

1
Dalhousie Cancer Genetics Research Group, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada. jason.berman@iwk.nshealth.ca)

Abstract

We report a child with polycythemia vera (PV). This patient demonstrates the acquired somatic JAK2 V617F mutation and also has neurofibromatosis type I (NF1). NF1, while not previously associated with PV, is associated with another childhood MPD, juvenile myelomonocytic leukemia (JMML). Thus we examined a number of genetic abnormalities identified in JMML patients, but found no association in this case. Neurofibromin sequencing failed to identify a causative mutation. An unknown genetic abnormality resulting in NF1 may have predisposed this young child to acquiring the common JAK2 mutation.

PMID:
18623221
DOI:
10.1002/pbc.21659
[Indexed for MEDLINE]

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