Leukemia acute
Recurrent genetic abnormalities
AML with FLT3 mutations

Topic Completed: 1 February 2013

Revised: 27 November 2019

Copyright: 2001-2019, PathologyOutlines.com, Inc.

PubMed Search: AML with FLT3 mutations [title]

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Cite this page: Mihova D. AML with FLT3 mutations. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/leukemiaAMLFLT3.html. Accessed January 18th, 2020.
Definition / general
  • Not a WHO diagnosis
  • Mutations of FMS related tyrosine kinase 3 (FLT3, gene located on 13q12) occur in all types of AML and MDS (Atlas of Genetics and Cytogenetics: FLT3 [Accessed 29 March 2018])
  • Most frequent molecular abnormality in AML (20 - 40% of cases)
  • AML: mutations occur most often in t(6;9)(p23;q34), APL t(15;17), AML with normal karyotype
  • Usually peripheral leukocytosis and normal cytogenetics
  • CD135 is receptor for FLT3 ligand / FLT3L
Prognostic factors
  • Mutations include internal tandem duplication within juxtamembrane domain (ITD, 75 - 80%) and tyrosine kinase domain (TKD) in codon 836 (20 - 35%)
  • FLT3-ITD: poor prognosis (Blood 2002;100:1532)
  • FLT3-ITD with NPM1, t(15;17), t(8;21), inv(16) and t(16;16): worse prognosis
  • FLT3-ITD with CEBPA: unclear prognosis
  • FLT3-TKD: doesn't affect prognosis (Blood 2008;111:2527)
Microscopic (histologic) description
Molecular / cytogenetics description
  • Usually normal cytogenetics
  • Most common mutation is internal tandem duplication mutation (ITD)
  • Cooperating mutations with NPM1, CEBPA and MLL-PTD
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