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Activating FLT3 Mutations Are Detectable in Chronic and Blast Phases of Chronic Myeloproliferative Disorders Other Than Chronic Myeloid Leukemia

Pei Lin MD, Dan Jones MD, PhD, L. Jeffrey Medeiros MD, Weina Chen MD, PhD, Francisco Vega-Vazquez MD, PhD, Rajyalakshmi Luthra PhD
DOI: http://dx.doi.org/10.1309/JT5BE2L1FGG8P8Y6 530-533 First published online: 1 October 2006


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.

Key Words:
  • FLT3 gene mutations
  • Chronic myeloproliferative disorders