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 exam...
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Published in | Pediatric Blood & Cancer Vol. 51; no. 5; pp. 689 - 691 |
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Main Authors | , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Hoboken
Wiley Subscription Services, Inc., A Wiley Company
01.11.2008
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Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | ark:/67375/WNG-9X57PQFJ-L ArticleID:PBC21659 istex:9650E76F84DE57915534B5CD5DBD6DE4F4C592AB ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Case Study-2 ObjectType-Feature-4 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 1545-5009 1545-5017 1096-911X |
DOI: | 10.1002/pbc.21659 |