Detection of t(3;5) and NPM1/MLF1 rearrangement in an elderly patient with acute myeloid leukemia: clinical and laboratory study with review of the literature.
We present a novel case of acute myeloid leukemia with an NPM1/MLF1 rearrangement in a 78-year-old Korean woman. The bone marrow chromosome study showed a complex karyotype: 46,XX,t(2;13) (q13;q32),der(3)t(3;5)(q25.1;q34),der(5)del(5)(?q31q34)t(3;5),inv(9)(p11q13)c,del(20)(q11.2)[13]/49,idem,+5,+8,+der(13)t(2;13)[7]. Multiplex gene rearrangement testing, cloning, and sequencing analyses revealed an NPM1/MLF1 fusion rearrangement between exon 6 of NPM1 (ENSG00000181163) and exon 2 of MLF1 (ENSG00000178053). Although t(3;5)(q25.1;q34) or the NPM1/MLF1 rearrangement has been reported mostly as a sole karyotypic abnormality in younger patients, it should also be considered in elderly patients with complex chromosomal abnormalities in acute myeloid leukemia or myelodysplastic syndrome.
Lim
Gayoung
G
Department of Laboratory Medicine, School of Medicine, Kyung Hee University, 1 Hoegi-dong, Dongdaemun-gu, Seoul 130-702, Korea.
Choi
Jong Rak
JR
Kim
Min Jin
MJ
Kim
So Young
SY
Lee
Hee Joo
HJ
Suh
Jin-Tae
JT
Yoon
Hwi-Joong
HJ
Lee
Juhie
J
Lee
Sanggyu
S
Lee
Woo-In
WI
Park
Tae Sung
TS
D000368:Aged; D018797:Cell Cycle Proteins; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D004268:DNA-Binding Proteins; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C100852:MLF1 protein, human; C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D011506:Proteins; D000090243:Nucleophosmin