Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing

Marco Togni; Riccardo Masetti; Martina Pigazzi; Annalisa Astolfi; Daniele Zama; Valentina Indio; Salvatore Serravalle; Elena Manara; Valeria Bisio; Carmelo Rizzari; Giuseppe Basso; Andrea Pession; Franco Locatelli

doi:10.1186/s13045-015-0167-8

Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing

Marco Togni, Riccardo Masetti, Martina Pigazzi, Annalisa Astolfi, Daniele Zama, Valentina Indio, Salvatore Serravalle, Elena Manara, Valeria Bisio, Carmelo Rizzari, Giuseppe Basso, Andrea Pession, Franco Locatelli

Risultato della ricerca: Contributo in rivista › Articolo in rivista

Abstract

The genomic landscape of children with acute myeloid leukemia (AML) who do not carry any cytogenetic abnormality (CN-AML) is particularly heterogeneous and challenging, being characterized by different clinical outcomes. To provide new genetic insights into this AML subset, we analyzed through RNA-seq 13 pediatric CN-AML cases, corroborating our findings in an independent cohort of 168 AML patients enrolled in the AIEOP AML 2002/01 study. We identified a chimeric transcript involving NUP98 and PHF23, resulting from a cryptic t(11;17)(p15;p13) translocation, demonstrating, for the first time, that NUP98-PHF23 is a novel recurrent (2.6 %) abnormality in pediatric CN-AML.

Lingua originale	English
pagine (da-a)	1-3
Numero di pagine	3
Rivista	JOURNAL OF HEMATOLOGY & ONCOLOGY
Volume	8
DOI	https://doi.org/10.1186/s13045-015-0167-8
Stato di pubblicazione	Pubblicato - 2015

Keywords

NUP98 gene fusions
PHD domain
Pediatric acute myeloid leukemia

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10.1186/s13045-015-0167-8

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Togni, M., Masetti, R., Pigazzi, M., Astolfi, A., Zama, D., Indio, V., Serravalle, S., Manara, E., Bisio, V., Rizzari, C., Basso, G., Pession, A., & Locatelli, F. (2015). Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing. JOURNAL OF HEMATOLOGY & ONCOLOGY, 8, 1-3. https://doi.org/10.1186/s13045-015-0167-8

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title = "Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing",

abstract = "The genomic landscape of children with acute myeloid leukemia (AML) who do not carry any cytogenetic abnormality (CN-AML) is particularly heterogeneous and challenging, being characterized by different clinical outcomes. To provide new genetic insights into this AML subset, we analyzed through RNA-seq 13 pediatric CN-AML cases, corroborating our findings in an independent cohort of 168 AML patients enrolled in the AIEOP AML 2002/01 study. We identified a chimeric transcript involving NUP98 and PHF23, resulting from a cryptic t(11;17)(p15;p13) translocation, demonstrating, for the first time, that NUP98-PHF23 is a novel recurrent (2.6 %) abnormality in pediatric CN-AML.",

keywords = "NUP98 gene fusions, PHD domain, Pediatric acute myeloid leukemia, NUP98 gene fusions, PHD domain, Pediatric acute myeloid leukemia",

author = "Marco Togni and Riccardo Masetti and Martina Pigazzi and Annalisa Astolfi and Daniele Zama and Valentina Indio and Salvatore Serravalle and Elena Manara and Valeria Bisio and Carmelo Rizzari and Giuseppe Basso and Andrea Pession and Franco Locatelli",

year = "2015",

doi = "10.1186/s13045-015-0167-8",

language = "English",

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Togni, M, Masetti, R, Pigazzi, M, Astolfi, A, Zama, D, Indio, V, Serravalle, S, Manara, E, Bisio, V, Rizzari, C, Basso, G, Pession, A & Locatelli, F 2015, 'Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing', JOURNAL OF HEMATOLOGY & ONCOLOGY, vol. 8, pagg. 1-3. https://doi.org/10.1186/s13045-015-0167-8

TY - JOUR

T1 - Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing

AU - Togni, Marco

AU - Masetti, Riccardo

AU - Pigazzi, Martina

AU - Astolfi, Annalisa

AU - Zama, Daniele

AU - Indio, Valentina

AU - Serravalle, Salvatore

AU - Manara, Elena

AU - Bisio, Valeria

AU - Rizzari, Carmelo

AU - Basso, Giuseppe

AU - Pession, Andrea

AU - Locatelli, Franco

PY - 2015

Y1 - 2015

N2 - The genomic landscape of children with acute myeloid leukemia (AML) who do not carry any cytogenetic abnormality (CN-AML) is particularly heterogeneous and challenging, being characterized by different clinical outcomes. To provide new genetic insights into this AML subset, we analyzed through RNA-seq 13 pediatric CN-AML cases, corroborating our findings in an independent cohort of 168 AML patients enrolled in the AIEOP AML 2002/01 study. We identified a chimeric transcript involving NUP98 and PHF23, resulting from a cryptic t(11;17)(p15;p13) translocation, demonstrating, for the first time, that NUP98-PHF23 is a novel recurrent (2.6 %) abnormality in pediatric CN-AML.

AB - The genomic landscape of children with acute myeloid leukemia (AML) who do not carry any cytogenetic abnormality (CN-AML) is particularly heterogeneous and challenging, being characterized by different clinical outcomes. To provide new genetic insights into this AML subset, we analyzed through RNA-seq 13 pediatric CN-AML cases, corroborating our findings in an independent cohort of 168 AML patients enrolled in the AIEOP AML 2002/01 study. We identified a chimeric transcript involving NUP98 and PHF23, resulting from a cryptic t(11;17)(p15;p13) translocation, demonstrating, for the first time, that NUP98-PHF23 is a novel recurrent (2.6 %) abnormality in pediatric CN-AML.

KW - NUP98 gene fusions

KW - PHD domain

KW - Pediatric acute myeloid leukemia

KW - NUP98 gene fusions

KW - PHD domain

KW - Pediatric acute myeloid leukemia

UR - http://hdl.handle.net/10807/230011

U2 - 10.1186/s13045-015-0167-8

DO - 10.1186/s13045-015-0167-8

M3 - Article

SN - 1756-8722

VL - 8

SP - 1

EP - 3

JO - JOURNAL OF HEMATOLOGY & ONCOLOGY

JF - JOURNAL OF HEMATOLOGY & ONCOLOGY

ER -

Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing

Abstract

Keywords

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