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

M. Togni; R. Masetti; M. Pigazzi; A. Astolfi; D. Zama; V. Indio; S. Serravalle; E. Manara; V. Bisio; C. Rizzari; G. Basso; A. 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

M. Togni
, R. Masetti^*
, M. Pigazzi
, A. Astolfi
, D. Zama
, V. Indio
, S. Serravalle
, E. Manara
, V. Bisio
, C. Rizzari
, G. Basso
, A. Pession
, Franco Locatelli

^*Corresponding author

University of Bologna
University of Padua
Azienda Ospedaliera San Gerardo Monza

Research output: Contribution to journal › Article

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.

Original language	English
Pages (from-to)	1-3
Number of pages	3
Journal	Journal of Hematology and Oncology
Volume	8
Issue number	1
DOIs	https://doi.org/10.1186/s13045-015-0167-8
Publication status	Published - 2015

All Science Journal Classification (ASJC) codes

Hematology
Molecular Biology
Oncology
Cancer Research

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 and Oncology, 8(1), 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 = "M. Togni and R. Masetti and M. Pigazzi and A. Astolfi and D. Zama and V. Indio and S. Serravalle and E. Manara and V. Bisio and C. Rizzari and G. Basso and A. Pession and Franco Locatelli",

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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 and Oncology, vol. 8, no. 1, pp. 1-3. https://doi.org/10.1186/s13045-015-0167-8

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AU - Togni, M.

AU - Masetti, R.

AU - Pigazzi, M.

AU - Astolfi, A.

AU - Zama, D.

AU - Indio, V.

AU - Serravalle, S.

AU - Manara, E.

AU - Bisio, V.

AU - Rizzari, C.

AU - Basso, G.

AU - Pession, A.

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

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JO - Journal of Hematology and Oncology

JF - Journal of Hematology and Oncology

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ER -

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

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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