A Simple RNA Target Capture NGS Strategy for Fusion Genes
Assessment in the Diagnostics of Pediatric B-cell Acute
Lymphoblastic Leukemia

J 2019

A Simple RNA Target Capture NGS Strategy for Fusion Genes Assessment in the Diagnostics of Pediatric B-cell Acute Lymphoblastic Leukemia

GRIONI, Andrea, G. FAZIO, S. RIGAMONTI, Vojtěch BYSTRÝ, G. DANIELE et. al.

Základní údaje

Originální název

A Simple RNA Target Capture NGS Strategy for Fusion Genes Assessment in the Diagnostics of Pediatric B-cell Acute Lymphoblastic Leukemia

Autoři

GRIONI, Andrea (380 Itálie, domácí), G. FAZIO, S. RIGAMONTI, Vojtěch BYSTRÝ (203 Česká republika, domácí), G. DANIELE, Zuzana DOSTÁLOVÁ (203 Česká republika, domácí), M. QUADRI, C. SAITTA, D. SILVESTRI, S. SONGIA, C.T. STORLAZZI, A. BIONDI, Nikos DARZENTAS (300 Řecko, domácí) a G. CAZZANIGA

Vydání

HEMASPHERE, PHILADELPHIA, LIPPINCOTT WILLIAMS & WILKINS, 2019, 2572-9241

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Kód RIV

RIV/00216224:14740/19:00113287

Organizační jednotka

Středoevropský technologický institut

DOI

http://dx.doi.org/10.1097/HS9.0000000000000250

UT WoS

000501818000011

Klíčová slova anglicky

HIGH-RISK; EXPRESSION; IKZF1; CRLF2

Štítky

CF BIOIT, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 17. 3. 2020 18:27, Mgr. Pavla Foltynová, Ph.D.

Anotace

V originále

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.

Citovat

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. HEMASPHERE. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS, 2019, roč. 3, č. 3, s. 1-9. ISSN 2572-9241. Dostupné z: https://dx.doi.org/10.1097/HS9.0000000000000250.

@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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