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EnglishWe 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."
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 CT; Di Giacomo D; Matteucci C; La Starza R; Mecucci C.. - In: CANCER GENETICS. - ISSN 2210-7762. - 206:3(2013), pp. 92-96.
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| Titolo: | Inv(11)(p15q22)/NUP98-DDX10 fusion and isoforms in a new case of de novo acute myeloid leukemia | |
| Autori: | ||
| Data di pubblicazione: | 2013 | |
| Rivista: | ||
| Citazione: | 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 CT; Di Giacomo D; Matteucci C; La Starza R; Mecucci C.. - In: CANCER GENETICS. - ISSN 2210-7762. - 206:3(2013), pp. 92-96. | |
| 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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