We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress
Sign In
Advertise with Us
Technopath Clinical Diagnostics

Download Mobile App




Events

ATTENTION: Due to the COVID-19 PANDEMIC, many events are being rescheduled for a later date, converted into virtual venues, or altogether cancelled. Please check with the event organizer or website prior to planning for any forthcoming event.
23 Sep 2021 - 25 Sep 2021

Advanced Sequencing Techniques Determine Cancer Genome Variants in Young Patients

By LabMedica International staff writers
Posted on 03 Aug 2021
Print article
Typical RNA sequencing workflow (Photo courtesy of Wikimedia Commons)
Typical RNA sequencing workflow (Photo courtesy of Wikimedia Commons)
A recent paper described a three-platform sequencing approach, including whole genome (WGS), exome, and RNA sequencing, that was used to examine tumor and germline genomes from prospectively identified children with newly diagnosed or relapsed/refractory cancers.

Investigators at St. Jude Children's Research Hospital (Memphis, TN, USA) analyzed samples obtained from participants in the "Genomes for Kids" study. Genomes for Kids, which has enrolled about 2,700 cancer patients, is St. Jude’s clinical genomics program. Data generated through the Genomes for Kids project has been made available at no cost to the international research community.

For the current study, whole genome, whole exome, and RNA sequencing of tumor DNA was carried out for 253 patients for whom adequate tumor samples were available.

Results revealed that 86% of patients harbored diagnostic (53%), prognostic (57%), therapeutically-relevant (25%), and/or cancer predisposing (18%) variants. Inclusion of WGS enabled detection of activating gene fusions and enhancer hijacks (36% and 8% of tumors, respectively), small intragenic deletions (15% of tumors), and mutational signatures revealing of pathogenic variant effects. Germline variations in one of 156 known, cancer-predisposition genes were identified in 18% of the patients.
Almost two-thirds of the germline variations identified would not have been detected based on current screening guidelines.

"This study showed the feasibility of identifying tumor vulnerabilities and learning to exploit them to improve patient care," said senior author Dr. David Wheeler, director of the precision genomics team at St. Jude Children's Research Hospital. "We want to change the thinking in the field. We showed the potential to use genomic data at the patient level. Even in common pediatric cancers, every tumor is unique, every patient is unique."

The Genomes for Kids study was published in the July 23, 2021, online edition of the journal Cancer Discovery.

Related Links:

St. Jude Children's Research Hospital

New
Gold Supplier
SARS-CoV-2/Flu A/B & RSV Test
RespiBio Panel 3 (RBRP3)
New
Urea Breath Test System for H. Pylori
BreathID Hp Lab
New
Gold Supplier
Automated Immune Analyzer
UNION Immune Analyzer
New
Laboratory Management Software
HERA

Print article

Channels

Pathology

view channel
Image: The CellSearch Circulating Tumor Cell Kit is intended for the enumeration of circulating tumor cells of epithelial origin (CD45-, EpCAM+, and cytokeratins 8, 18+, and/or 19+ and PD-L1) in whole blood (Photo courtesy of CellSearch/Menarini Silicon Biosystems)

PD-L1 Expression in Circulating Tumor Cells Investigated for NSCLC

In non-small cell lung cancer (NSCLC), analysis of programmed cell death ligand 1 (PD-L1) expression in circulating tumor cells (CTCs) is a potential alternative to overcome the problems linked to the... Read more

Industry

view channel
Illustration

Global Digital Polymerase Chain Reaction (dPCR) Market Projected to Reach Close to USD 1.15 Billion by 2028

The global digital polymerase chain reaction (dPCR) market is projected to grow at a CAGR of more than 9% from over USD 0.50 billion in 2020 to nearly USD 1.15 billion by 2028, driven primarily by rising... Read more
Copyright © 2000-2021 Globetech Media. All rights reserved.