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Updated: Jun 14, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Prognostic value of the mutation types and dynamics of FLT3-ITD in acute myeloid leukemia
Mosae Koo1, Ik-Chan Song2, Jimyung Kim1
1Department of Laboratory Medicine, Chungnam National University College of Medicine, Chungnam National University Hospital, Daejeon, Republic of Korea.
Objective:
The prognostic value of the mutation types and dynamics of FLT3-ITD in acute myeloid leukemia (AML) and other known factors were studied.
Methods:
Initial and follow-up samples from 45 AML patients with FLT3-ITD mutations were analyzed by fragment length analysis, Sanger sequencing, and next-generation sequencing.
Results:
Some patients (13%) had multiple FLT3-ITD mutations, and many of them had acute promyelocytic leukemia (APL). FLT3-ITD mutations were classified according to mutation types, including duplication-only FLT3-ITD (52%) and FLT3-ITD with duplications and insertions (dup + ins) (48%). The dup + ins FLT3-ITD variant was independently associated with poor prognosis among non-APL patients (odds ratio, 2.92) in addition to FLT3-ITD with ≥50% variant allele frequency (VAF). The VAFs of FLT3-ITD were low (median 2.2%) when detected during morphologic complete remission (CR) after conventional chemotherapy; however, in two patients treated with gilteritinib after relapse, the VAFs of FLT3-ITD were much higher (>95% and 8.1%) in the morphologic CR state.
Conclusions:
The type of FLT3-ITD mutation is important in prognosis, and the dup + ins type of FLT3-ITD can be an indicator of poor prognosis. In addition, the FLT3-ITD mutation status may unexpectedly not match the morphologic examination results after gilteritinib treatment.

