Author/Authors :
Lim، نويسنده , , Gayoung and Choi، نويسنده , , Jong Rak and Kim، نويسنده , , Min-Jin and Kim، نويسنده , , So Young and Lee، نويسنده , , Hee Joo and Suh، نويسنده , , Jin-Tae and Yoon، نويسنده , , Hwi-Joong and Lee، نويسنده , , Juhie and Lee، نويسنده , , Sanggyu and Lee، نويسنده , , Woo-In and Park، نويسنده , , Tae Sung، نويسنده ,
Abstract :
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.
