NUP214-RAC1 and RAC1-COL12A1 Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with DEK-NUP214

Akihiro Abe, Yukiya Yamamoto, Sachiko Iba, Akinao Okamoto, Masutaka Tokuda, Yoko Inaguma, Masamitsu Yanada, Satoko Morishima, Tadaharu Kanie, Motohiro Tsuzuki, Yoshiki Akatsuka, Shuichi Mizuta, Masataka Okamoto, Toshiki Kameyama, Akira Maeda, Nobuhiko Emi

Research output: Contribution to journalArticle

Abstract

DEK-NUP214 gene fusion in acute myeloid leukemia (AML) is associated with poor prognosis. It is most often a sole translocation and more rarely observed as complex chromosomal forms. We describe an AML case with complex karyotype abnormalities involving chromosome bands 6p23, 6q13, 7p22, and 9q34. RNA sequencing analysis revealed that exon 17 of NUP214 (9q34) was fused to exon 2 of RAC1 (7p22). We also detected that the 5′-end of intron 1 of RAC1 was fused with the antisense strand of intron 5 of COL12A1 (6q13). RT-PCR analysis confirmed the expression of DEK-NUP214, NUP214-RAC1, RAC1-COL12A1, NUP214, and RAC1. These results suggest that the 5′- and 3′-ends of NUP214 from the breakpoint in the same locus were fused to RAC1 and DEK, respectively, and the 5′-end of RAC1 was fused to COL12A1. The reading frame of NUP214 was not matched with RAC1; however, high expression of the RAC1 protein was detected by Western blotting. This study identifies the variant complex fusion genesNUP214-RAC1 and RAC1- COL12A1 in a case of AML.

Original languageEnglish
Pages (from-to)279-284
Number of pages6
JournalCytogenetic and Genome Research
Volume146
Issue number4
DOIs
Publication statusPublished - 01-12-2015

Fingerprint

Chromosomes, Human, Pair 9
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 7
Acute Myeloid Leukemia
Introns
Exons
RNA Sequence Analysis
Reading Frames
Gene Fusion
Karyotype
Chromosome Aberrations
Western Blotting
Polymerase Chain Reaction
Proteins

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Abe, Akihiro ; Yamamoto, Yukiya ; Iba, Sachiko ; Okamoto, Akinao ; Tokuda, Masutaka ; Inaguma, Yoko ; Yanada, Masamitsu ; Morishima, Satoko ; Kanie, Tadaharu ; Tsuzuki, Motohiro ; Akatsuka, Yoshiki ; Mizuta, Shuichi ; Okamoto, Masataka ; Kameyama, Toshiki ; Maeda, Akira ; Emi, Nobuhiko. / NUP214-RAC1 and RAC1-COL12A1 Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with DEK-NUP214. In: Cytogenetic and Genome Research. 2015 ; Vol. 146, No. 4. pp. 279-284.
@article{1d832c9c58c2402085d0cad3705813a9,
title = "NUP214-RAC1 and RAC1-COL12A1 Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with DEK-NUP214",
abstract = "DEK-NUP214 gene fusion in acute myeloid leukemia (AML) is associated with poor prognosis. It is most often a sole translocation and more rarely observed as complex chromosomal forms. We describe an AML case with complex karyotype abnormalities involving chromosome bands 6p23, 6q13, 7p22, and 9q34. RNA sequencing analysis revealed that exon 17 of NUP214 (9q34) was fused to exon 2 of RAC1 (7p22). We also detected that the 5′-end of intron 1 of RAC1 was fused with the antisense strand of intron 5 of COL12A1 (6q13). RT-PCR analysis confirmed the expression of DEK-NUP214, NUP214-RAC1, RAC1-COL12A1, NUP214, and RAC1. These results suggest that the 5′- and 3′-ends of NUP214 from the breakpoint in the same locus were fused to RAC1 and DEK, respectively, and the 5′-end of RAC1 was fused to COL12A1. The reading frame of NUP214 was not matched with RAC1; however, high expression of the RAC1 protein was detected by Western blotting. This study identifies the variant complex fusion genesNUP214-RAC1 and RAC1- COL12A1 in a case of AML.",
author = "Akihiro Abe and Yukiya Yamamoto and Sachiko Iba and Akinao Okamoto and Masutaka Tokuda and Yoko Inaguma and Masamitsu Yanada and Satoko Morishima and Tadaharu Kanie and Motohiro Tsuzuki and Yoshiki Akatsuka and Shuichi Mizuta and Masataka Okamoto and Toshiki Kameyama and Akira Maeda and Nobuhiko Emi",
year = "2015",
month = "12",
day = "1",
doi = "10.1159/000441464",
language = "English",
volume = "146",
pages = "279--284",
journal = "Cytogenetic and Genome Research",
issn = "1424-8581",
publisher = "S. Karger AG",
number = "4",

}

Abe, A, Yamamoto, Y, Iba, S, Okamoto, A, Tokuda, M, Inaguma, Y, Yanada, M, Morishima, S, Kanie, T, Tsuzuki, M, Akatsuka, Y, Mizuta, S, Okamoto, M, Kameyama, T, Maeda, A & Emi, N 2015, 'NUP214-RAC1 and RAC1-COL12A1 Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with DEK-NUP214', Cytogenetic and Genome Research, vol. 146, no. 4, pp. 279-284. https://doi.org/10.1159/000441464

NUP214-RAC1 and RAC1-COL12A1 Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with DEK-NUP214. / Abe, Akihiro; Yamamoto, Yukiya; Iba, Sachiko; Okamoto, Akinao; Tokuda, Masutaka; Inaguma, Yoko; Yanada, Masamitsu; Morishima, Satoko; Kanie, Tadaharu; Tsuzuki, Motohiro; Akatsuka, Yoshiki; Mizuta, Shuichi; Okamoto, Masataka; Kameyama, Toshiki; Maeda, Akira; Emi, Nobuhiko.

In: Cytogenetic and Genome Research, Vol. 146, No. 4, 01.12.2015, p. 279-284.

Research output: Contribution to journalArticle

TY - JOUR

T1 - NUP214-RAC1 and RAC1-COL12A1 Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with DEK-NUP214

AU - Abe, Akihiro

AU - Yamamoto, Yukiya

AU - Iba, Sachiko

AU - Okamoto, Akinao

AU - Tokuda, Masutaka

AU - Inaguma, Yoko

AU - Yanada, Masamitsu

AU - Morishima, Satoko

AU - Kanie, Tadaharu

AU - Tsuzuki, Motohiro

AU - Akatsuka, Yoshiki

AU - Mizuta, Shuichi

AU - Okamoto, Masataka

AU - Kameyama, Toshiki

AU - Maeda, Akira

AU - Emi, Nobuhiko

PY - 2015/12/1

Y1 - 2015/12/1

N2 - DEK-NUP214 gene fusion in acute myeloid leukemia (AML) is associated with poor prognosis. It is most often a sole translocation and more rarely observed as complex chromosomal forms. We describe an AML case with complex karyotype abnormalities involving chromosome bands 6p23, 6q13, 7p22, and 9q34. RNA sequencing analysis revealed that exon 17 of NUP214 (9q34) was fused to exon 2 of RAC1 (7p22). We also detected that the 5′-end of intron 1 of RAC1 was fused with the antisense strand of intron 5 of COL12A1 (6q13). RT-PCR analysis confirmed the expression of DEK-NUP214, NUP214-RAC1, RAC1-COL12A1, NUP214, and RAC1. These results suggest that the 5′- and 3′-ends of NUP214 from the breakpoint in the same locus were fused to RAC1 and DEK, respectively, and the 5′-end of RAC1 was fused to COL12A1. The reading frame of NUP214 was not matched with RAC1; however, high expression of the RAC1 protein was detected by Western blotting. This study identifies the variant complex fusion genesNUP214-RAC1 and RAC1- COL12A1 in a case of AML.

AB - DEK-NUP214 gene fusion in acute myeloid leukemia (AML) is associated with poor prognosis. It is most often a sole translocation and more rarely observed as complex chromosomal forms. We describe an AML case with complex karyotype abnormalities involving chromosome bands 6p23, 6q13, 7p22, and 9q34. RNA sequencing analysis revealed that exon 17 of NUP214 (9q34) was fused to exon 2 of RAC1 (7p22). We also detected that the 5′-end of intron 1 of RAC1 was fused with the antisense strand of intron 5 of COL12A1 (6q13). RT-PCR analysis confirmed the expression of DEK-NUP214, NUP214-RAC1, RAC1-COL12A1, NUP214, and RAC1. These results suggest that the 5′- and 3′-ends of NUP214 from the breakpoint in the same locus were fused to RAC1 and DEK, respectively, and the 5′-end of RAC1 was fused to COL12A1. The reading frame of NUP214 was not matched with RAC1; however, high expression of the RAC1 protein was detected by Western blotting. This study identifies the variant complex fusion genesNUP214-RAC1 and RAC1- COL12A1 in a case of AML.

UR - http://www.scopus.com/inward/record.url?scp=84954381157&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84954381157&partnerID=8YFLogxK

U2 - 10.1159/000441464

DO - 10.1159/000441464

M3 - Article

C2 - 26517539

AN - SCOPUS:84954381157

VL - 146

SP - 279

EP - 284

JO - Cytogenetic and Genome Research

JF - Cytogenetic and Genome Research

SN - 1424-8581

IS - 4

ER -