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

Gayoung Lim; Jong Rak Choi; Min Jin Kim; So Young Kim; Hee Joo Lee; Jin Tae Suh; Hwi Joong Yoon; Juhie Lee; Sanggyu Lee; Woo In Lee; Tae Sung Park

doi:10.1016/j.cancergencyto.2010.02.009

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

Gayoung Lim, Jong Rak Choi, Min Jin Kim, So Young Kim, Hee Joo Lee, Jin Tae Suh, Hwi Joong Yoon, Juhie Lee, Sanggyu Lee, Woo In Lee, Tae Sung Park

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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.

Original language	English
Pages (from-to)	101-109
Number of pages	9
Journal	Cancer Genetics and Cytogenetics
Volume	199
Issue number	2
DOIs	https://doi.org/10.1016/j.cancergencyto.2010.02.009
State	Published - Jun 2010

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Lim, G., Choi, J. R., Kim, M. J., Kim, S. Y., Lee, H. J., Suh, J. T., Yoon, H. J., Lee, J., Lee, S., Lee, W. I., & Park, T. S. (2010). 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. Cancer Genetics and Cytogenetics, 199(2), 101-109. https://doi.org/10.1016/j.cancergencyto.2010.02.009

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title = "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",

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.",

author = "Gayoung Lim and Choi, {Jong Rak} and Kim, {Min Jin} and Kim, {So Young} and Lee, {Hee Joo} and Suh, {Jin Tae} and Yoon, {Hwi Joong} and Juhie Lee and Sanggyu Lee and Lee, {Woo In} and Park, {Tae Sung}",

year = "2010",

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Lim, G, Choi, JR, Kim, MJ, Kim, SY, Lee, HJ, Suh, JT, Yoon, HJ, Lee, J, Lee, S, Lee, WI & Park, TS 2010, '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', Cancer Genetics and Cytogenetics, vol. 199, no. 2, pp. 101-109. https://doi.org/10.1016/j.cancergencyto.2010.02.009

TY - JOUR

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AU - Lim, Gayoung

AU - Choi, Jong Rak

AU - Kim, Min Jin

AU - Kim, So Young

AU - Lee, Hee Joo

AU - Suh, Jin Tae

AU - Yoon, Hwi Joong

AU - Lee, Juhie

AU - Lee, Sanggyu

AU - Lee, Woo In

AU - Park, Tae Sung

PY - 2010/6

Y1 - 2010/6

N2 - 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.

AB - 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.

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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

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