Deletion and deletion/insertion mutations in the juxtamembrane domain of the FLT3 gene in adult acute myeloid leukemia.
In contrast to FLT3 ITD mutations, in-frame deletions in the FLT3 gene have rarely been described in adult acute leukemia. We report two cases of AML with uncommon in-frame mutations in the juxtamembrane domain of the FLT3 gene: a 3-bp (c.1770_1774delCTACGinsGT; p.F590_V592delinsLF) deletion/insertion and a 12-bp (c.1780_1791delTTCAGAGAATAT; p.F594_Y597del) deletion. We verified by sequencing that the reading frame of the FLT3 gene was preserved and by cDNA analysis that the mRNA of the mutant allele was expressed in both cases. Given the recent development of FLT3 inhibitors, our findings may be of therapeutic value for AML patients harboring similar FLT3 mutations.
Molecular Diagnostics Laboratory, Department of Pathology and Laboratory Medicine, Roswell Park Cancer Institute, Buffalo, NY 14263, United States.
Kristin K
KK
Deeb
Molecular Diagnostics Laboratory, Department of Pathology and Laboratory Medicine, Roswell Park Cancer Institute, Buffalo, NY 14263, United States.
Matthew T
MT
Smonskey
Molecular Diagnostics Laboratory, Department of Pathology and Laboratory Medicine, Roswell Park Cancer Institute, Buffalo, NY 14263, United States.
HanChun
H
DeFedericis
Department of Pathology and Laboratory Medicine, Roswell Park Cancer Institute, Buffalo, NY 14263, United States.
George
G
Deeb
Cytogenetics Laboratory, Department of Pathology and Laboratory Medicine, Roswell Park Cancer Institute, Buffalo, NY 14263, United States.
Sheila N J
SN
Sait
Leukemia Service, Department of Medicine, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, United States.
Meir
M
Wetzler
Leukemia Service, Department of Medicine, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, United States.
Eunice S
ES
Wang
Molecular Diagnostics Laboratory, Department of Pathology and Laboratory Medicine, Roswell Park Cancer Institute, Buffalo, NY 14263, United States.
Petr
P
Starostik
Acute myeloid leukemia (AML); Deletion/insertion; FLT3; Juxtamembrane domain; Mutation