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.

Basic information

Original name

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

Authors

GRIONI, Andrea (380 Italy, belonging to the institution), G. FAZIO, S. RIGAMONTI, Vojtěch BYSTRÝ (203 Czech Republic, belonging to the institution), G. DANIELE, Zuzana DOSTÁLOVÁ (203 Czech Republic, belonging to the institution), M. QUADRI, C. SAITTA, D. SILVESTRI, S. SONGIA, C.T. STORLAZZI, A. BIONDI, Nikos DARZENTAS (300 Greece, belonging to the institution) and G. CAZZANIGA

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30205 Hematology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

RIV identification code

RIV/00216224:14740/19:00113287

Organization unit

Central European Institute of Technology

DOI

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

UT WoS

000501818000011

Keywords in English

HIGH-RISK; EXPRESSION; IKZF1; CRLF2

Tags

CF BIOIT, rivok

Tags

International impact, Reviewed
Změněno: 24/10/2024 16:44, Ing. Marie Švancarová

Abstract

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.

Links

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