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

Berman Jason N. | Zendy; Greer Wenda L. | Zendy; Archambeault Sophie | Zendy; Loh Mig L. | Zendy; Riddell Christie | Zendy; Morash Barbara | Zendy; Dumas Nadine | Zendy; Fernandez Conrad V. | Zendy; Ludman Mark D. | Zendy

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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.

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