JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I
Dalhousie Cancer Genetics Research Group, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada. ) Pediatric Blood & Cancer
(Impact Factor: 2.39).
11/2008; 51(5):689-91. DOI: 10.1002/pbc.21659
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.
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