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Absence of FTL3 mutations in patients with JAK2 V617F mutation negative essential thrombocythemia
Author(s) -
Medeiros Bruno C.,
Zhang Tong,
Lipton Jeffrey H.,
KamelReid Suzanne
Publication year - 2007
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.20765
Subject(s) - essential thrombocythemia , myeloproliferative disorders , mutation , haematopoiesis , janus kinase 2 , point mutation , cancer research , medicine , tyrosine kinase , myelofibrosis , biology , immunology , receptor , genetics , polycythemia vera , gene , stem cell , bone marrow
A common point mutation in the JAK2 tyrosine kinase leads to constitutive hematopoietic growth factor receptor signaling and was recently described in many patients with myeloproliferative disorders (MPDs). However, this JAK2 mutation is present in only a subset (35–50%) of patients with essential thrombocythemia (ET). Thus, the proliferative signals responsible for MPDs in the absence of JAK2 mutations remain largely unknown. Despite intriguing pre‐clinical data, where transgenic mice overexpressing FLT3‐ITD developed a MPD resembling ET, none of the patient samples from ET patients who were JAK2 V617F ‐negative demonstrated the presence of activating mutations in the FLT3 receptor. Am. J. Hematol., 2006. © 2006 Wiley‐Liss, Inc.