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@article{1636878,
author = {Grioni, Andrea and Fazio, G. and Rigamonti, S. and Bystrý, Vojtěch and Daniele, G. and Dostálová, Zuzana and Quadri, M. and Saitta, C. and Silvestri, D. and Songia, S. and Storlazzi, C.T. and Biondi, A. and Darzentas, Nikos and Cazzaniga, G.},
article_location = {PHILADELPHIA},
article_number = {3},
doi = {http://dx.doi.org/10.1097/HS9.0000000000000250},
keywords = {HIGH-RISK; EXPRESSION; IKZF1; CRLF2},
language = {eng},
issn = {2572-9241},
journal = {HEMASPHERE},
title = {A Simple RNA Target Capture NGS Strategy for Fusion Genes Assessment in the Diagnostics of Pediatric B-cell Acute Lymphoblastic Leukemia},
url = {https://insights.ovid.com/crossref?an=02014419-201906000-00009},
volume = {3},
year = {2019}
}
TY - JOUR
ID - 1636878
AU - Grioni, Andrea - Fazio, G. - Rigamonti, S. - Bystrý, Vojtěch - Daniele, G. - Dostálová, Zuzana - Quadri, M. - Saitta, C. - Silvestri, D. - Songia, S. - Storlazzi, C.T. - Biondi, A. - Darzentas, Nikos - Cazzaniga, G.
PY - 2019
TI - A Simple RNA Target Capture NGS Strategy for Fusion Genes Assessment in the Diagnostics of Pediatric B-cell Acute Lymphoblastic Leukemia
JF - HEMASPHERE
VL - 3
IS - 3
SP - 1-9
EP - 1-9
PB - LIPPINCOTT WILLIAMS & WILKINS
SN - 25729241
KW - HIGH-RISK
KW - EXPRESSION
KW - IKZF1
KW - CRLF2
UR - https://insights.ovid.com/crossref?an=02014419-201906000-00009
L2 - https://insights.ovid.com/crossref?an=02014419-201906000-00009
N2 - Acute lymphoblastic leukemia (ALL) is the most frequent pediatric cancer. Fusion genes are hallmarks of ALL, and they are used as biomarkers for risk stratification as well as targets for precision medicine. Hence, clinical diagnostics pursues broad and comprehensive strategies for accurate discovery of fusion genes. Currently, the gold standard methodologies for fusion gene detection are fluorescence in situ hybridization and polymerase chain reaction; these, however, lack sensitivity for the identification of new fusion genes and breakpoints. In this study, we implemented a simple operating procedure (OP) for detecting fusion genes. The OP employs RNA CaptureSeq, a versatile and effortless next-generation sequencing assay, and an in-house as well as a purpose-built bioinformatics pipeline for the subsequent data analysis. The OP was evaluated on a cohort of 89 B-cell precursor ALL (BCP-ALL) pediatric samples annotated as negative for fusion genes by the standard techniques. The OP confirmed 51 samples as negative for fusion genes, and, more importantly, it identified known (KMT2A rearrangements) as well as new fusion events (JAK2 rearrangements) in the remaining 38 investigated samples, of which 16 fusion genes had prognostic significance. Herein, we describe the OP and its deployment into routine ALL diagnostics, which will allow substantial improvements in both patient risk stratification and precision medicine.
ER -
GRIONI, Andrea, G. FAZIO, S. RIGAMONTI, Vojtěch BYSTRÝ, G. DANIELE, Zuzana DOSTÁLOVÁ, M. QUADRI, C. SAITTA, D. SILVESTRI, S. SONGIA, C.T. STORLAZZI, A. BIONDI, Nikos DARZENTAS a G. CAZZANIGA. A Simple RNA Target Capture NGS Strategy for Fusion Genes Assessment in the Diagnostics of Pediatric B-cell Acute Lymphoblastic Leukemia. \textit{HEMASPHERE}. PHILADELPHIA: LIPPINCOTT WILLIAMS \&{}amp; WILKINS, 2019, roč.~3, č.~3, s.~1-9. ISSN~2572-9241. Dostupné z: https://dx.doi.org/10.1097/HS9.0000000000000250.
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