title: JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I.
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.
authors.affiliation: Dalhousie Cancer Genetics Research Group, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada. jason.berman@iwk.nshealth.ca)
authors.forename: Jason N
authors.initials: JN
authors.lastname: Berman
authors.forename: Wenda L
authors.initials: WL
authors.lastname: Greer
authors.forename: Sophie
authors.initials: S
authors.lastname: Archambeault
authors.forename: Mignon L
authors.initials: ML
authors.lastname: Loh
authors.forename: Christie
authors.initials: C
authors.lastname: Riddell
authors.forename: Barbara
authors.initials: B
authors.lastname: Morash
authors.forename: Nadine
authors.initials: N
authors.lastname: Dumas
authors.forename: Conrad V
authors.initials: CV
authors.lastname: Fernandez
authors.forename: Mark D
authors.initials: MD
authors.lastname: Ludman
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D053614:Janus Kinase 2 / Q000235:genetics*; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000503:physiopathology; D011087:Polycythemia Vera / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D016133:Polymerase Chain Reaction
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2