JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I.
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.
Berman
Jason N
JN
Dalhousie Cancer Genetics Research Group, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada. jason.berman@iwk.nshealth.ca)
Greer
Wenda L
WL
Archambeault
Sophie
S
Loh
Mignon L
ML
Riddell
Christie
C
Morash
Barbara
B
Dumas
Nadine
N
Fernandez
Conrad V
CV
Ludman
Mark D
MD
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
C507924:JAK2 protein, human; D053614:Janus Kinase 2