Heterogeneous leukemic clones identified by NPM1 mutation analysis in patient with acute monocytic leukemia.
NPM1 mutation is the most common molecular abnormality in patients with acute myeloid leukemia (AML), especially normal karyotype AML (NK-AML), and is associated with a favorable prognosis in the absence of concomitant FLT3-ITD. Like other molecular abnormalities such as FLT3-ITD, C/EBPα and c-Kit mutation, NPM1 mutation normally presents as a recurrent molecular abnormality. The NPM1 mutation is generally used as a molecular marker in the prognosis evaluation of a patient with AML. Here, we report a different case. He was first diagnosed with NPM1 mutation-positive acute monocytic leukemia. However, he achieved no remission, but the NPM1 mutation dramatically became negative after induction chemotherapy. Finally, he achieved complete remission after salvage chemotherapy and the NPM1 mutation was still negative. To our knowledge, this is a rare case according to the worldwide published literature.
Department of Hematology, Nanjing Medical University, Nanjing , China.
Chun
C
Qiao
Run
R
Zhang
Ming
M
Hong
Li
L
Wang
Jian-Fu
JF
Zhang
Yu-Jie
YJ
Wu
Hai-Rong
HR
Qiu
Hong-Xia
HX
Qiu
Si-Xuan
SX
Qian
Hua
H
Lu
Su-Jiang
SJ
Zhang
Jian-Yong
JY
Li
D002999:Clone Cells / Q000473:pathology; D006801:Humans; D007948:Leukemia, Monocytic, Acute / Q000235:genetics / Q000473:pathology*; D008297:Male; D050505:Mutant Proteins / Q000032:analysis*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D012074:Remission Induction
D050505:Mutant Proteins; C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin