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

ArticleinPediatric Blood & Cancer 51(5):689-91 · November 2008with30 Reads
Impact Factor: 2.39 · DOI: 10.1002/pbc.21659 · Source: PubMed


    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.