title: Activating FLT3 mutations are detectable in chronic and blast phase of chronic myeloproliferative disorders other than chronic myeloid leukemia.
abstract: FLT3 gene mutations, either internal tandem duplication (ITD) or D835 point mutations, have been studied extensively in acute myeloid leukemia and myelodysplastic syndrome (MDS). Little is known about FLT3 mutations in chronic myeloproliferative diseases (CMPDs) or their relationship with V617F JAK2 mutations. We analyzed bone marrow samples from 142 patients with Philadelphia (Ph) chromosome- CMPD or CMPD/MDS and from 119 patients with Ph+ chronic myeloid leukemia (CML) using a multiplex polymerase chain reaction assay. FLT3 mutations, 11 ITD and 2 D835, were detected in 13 (9.2%) patients with CMPD or CMPD/MDS, 7 in blast phase and 6 in chronic phase. Analyses for JAK2 mutations in 11 of 13 cases were all negative. By contrast, no FLT3 mutations were detected in CML, including 108 chronic and 11 blast phase cases. FLT3 mutations occur in approximately 10% of CMPD and CMPD/MDS but are not observed in JAK2+ CMPD or in CML.
authors.affiliation: Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, USA.
authors.forename: Pei
authors.initials: P
authors.lastname: Lin
authors.forename: Dan
authors.initials: D
authors.lastname: Jones
authors.forename: L Jeffrey
authors.initials: LJ
authors.lastname: Medeiros
authors.forename: Weina
authors.initials: W
authors.lastname: Chen
authors.forename: Francisco
authors.initials: F
authors.lastname: Vega-Vazquez
authors.forename: Rajyalakshmi
authors.initials: R
authors.lastname: Luthra
mesh_terms: D001752:Blast Crisis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D001853:Bone Marrow / Q000378:metabolism / Q000473:pathology; D002908:Chronic Disease; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D015466:Leukemia, Myeloid, Chronic-Phase / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010677:Philadelphia Chromosome; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics* / Q000378:metabolism
chemical_list: D004273:DNA, Neoplasm; C497970:FLT3 protein, human; D051941:fms-Like Tyrosine Kinase 3