TY - JOUR
T1 - JAK2 V617F positive polycythemia vera in a child with neurofibromatosis type I
AU - Berman, Jason N.
AU - Greer, Wenda L.
AU - Archambeault, Sophie
AU - Loh, Mignon L.
AU - Riddell, Christie
AU - Morash, Barbara
AU - Dumas, Nadine
AU - Fernandez, Conrad V.
AU - Ludman, Mark D.
PY - 2008/11
Y1 - 2008/11
N2 - 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.
AB - 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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U2 - 10.1002/pbc.21659
DO - 10.1002/pbc.21659
M3 - Article
C2 - 18623221
AN - SCOPUS:52649142027
SN - 1545-5009
VL - 51
SP - 689
EP - 691
JO - Pediatric Blood and Cancer
JF - Pediatric Blood and Cancer
IS - 5
ER -