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

• Published in: Pediatric Blood & Cancer Vol. 51; no. 5; pp. 689 - 691
• Main Authors: Berman, Jason N., Greer, Wenda L., Archambeault, Sophie, Loh, Mignon L., Riddell, Christie, Morash, Barbara, Dumas, Nadine, Fernandez, Conrad V., Ludman, Mark D.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.11.2008
• Subjects: DNA Mutational Analysis; Female; Humans; Infant; JAK2; Janus Kinase 2 - genetics; Mutation; myeloproliferative disease; neurofibromatosis; Neurofibromatosis 1 - complications; Neurofibromatosis 1 - physiopathology; polycythemia vera; Polycythemia Vera - complications; Polycythemia Vera - genetics; Polycythemia Vera - physiopathology; Polymerase Chain Reaction
• ISSN: 1545-5009; 1545-5017; 1096-911X
• 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. Pediatr Blood Cancer 2008;51:689–691. © 2008 Wiley‐Liss, Inc.