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

Gorello, P; Nofrini, V; Brandimarte, L; Pierini, V; Crescenzi, B; Nozza, F; Daniele, G; Storlazzi, Clelia Tiziana; Di Giacomo, D; Matteucci, C; La Starza, R; Mecucci, C.

doi:10.1016/j.cancergen.2013.02.001

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."

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Titolo:	Inv(11)(p15q22)/NUP98-DDX10 fusion and isoforms in a new case of de novo acute myeloid leukemia
Autori:	Gorello P Nofrini V Brandimarte L Pierini V Crescenzi B Nozza F Daniele G STORLAZZI, CLELIA TIZIANA Di Giacomo D Matteucci C La Starza R Mecucci C. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2013
Rivista:	CANCER GENETICS
Abstract:	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."
Handle:	http://hdl.handle.net/11586/35325
Appare nelle tipologie:	1.1 Articolo in rivista

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