Inv(11)(p15q22)/NUP98-DDX10 fusion and isoforms in a new case of de novo acute myeloid leukemia

被引：11

作者：

Gorello, Paolo ^{[1
]}

Nofrini, Valeria ^{[1
]}

Brandimarte, Lucia ^{[1
]}

Pierini, Valentina ^{[1
]}

Crescenzi, Barbara ^{[1
]}

Nozza, Filomena ^{[2
]}

Daniele, Giulia ^{[3
]}

Storlazzi, Clelia Tiziana ^{[3
]}

Di Giacomo, Danika ^{[1
]}

Matteucci, Caterina ^{[1
]}

La Starza, Roberta ^{[1
]}

Mecucci, Cristina ^{[1
]}

机构：

[1] Univ Perugia, Hematol & Bone Marrow Transplantat Unit, I-06100 Perugia, Italy

[2] Ctr Riferimento Oncol Basilicata, Ist Ricovero & Cure Carattere Sci IRCCS, Dept Oncohematol, Rionero In Vulture, Italy

[3] Univ Bari, Dept Hematol, Bari, Italy

来源：

CANCER GENETICS | 2013年 / 206卷 / 03期

关键词：

AML; NUP98-DDX10; FISH; fusion isoforms; RNA HELICASE GENE; NUP98; GENE; HEMATOPOIETIC MALIGNANCIES; CHROMOSOME-TRANSLOCATION; CHIMERIC TRANSCRIPTS; NUCLEOPORIN GENE; INVERSION; DDX10;

D O I：

10.1016/j.cancergen.2013.02.001

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We set up a diagnostic double-color double-fusion fluorescence in situ hybridization (DCDF-FISH) assay to investigate a case of a de novo acute myeloid leukemia (AML)-M4 bearing an inv(11)(p15q22). DCDF-FISH detected the NUP98-DDX10 rearrangement as two fusion signals, at the short and the long arms of the inv(11). Reverse transcription-polymerase chain reaction (RT-PCR) and cloning experiments confirmed the NUP98-DDX10 fusion and identified two splicing fusion isoforms: the known "type II fusion," originating from the fusion of NUP98 exon 14 to DDX10 exon 7 and a new in-frame fusion transcript between NUP98 exon 15 and DDX10 exon 7, which we termed "type III fusion."

引用

页码：92 / 96

页数：5

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