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JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I
Author(s) -
Berman Jason N.,
Greer Wenda L.,
Archambeault Sophie,
Loh Mig L.,
Riddell Christie,
Morash Barbara,
Dumas Nadine,
Fernandez Conrad V.,
Ludman Mark D.
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21659
Subject(s) - juvenile myelomonocytic leukemia , medicine , jak2 v617f , neurofibromatosis , polycythemia vera , neurofibromin 1 , myeloproliferative neoplasm , germline mutation , neurofibromatosis type i , blood cancer , mutation , myeloproliferative disorders , pediatrics , oncology , cancer , genetics , haematopoiesis , pathology , myelofibrosis , bone marrow , stem cell , biology , gene
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.