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
Sekisui Diagnostics UK Ltd.

Download Mobile App

Single Blood Test Detects Various Tumor Types Less Invasively Than Tissue Biopsy

By LabMedica International staff writers
Posted on 06 Mar 2023
Print article
Image: Researchers have developed a liquid biopsy test for pediatric solid tumors (Photo courtesy of Pexels)
Image: Researchers have developed a liquid biopsy test for pediatric solid tumors (Photo courtesy of Pexels)

Around 40% of childhood cancers are pediatric solid tumors. Although pediatric cancer is uncommon, children can develop various tumor types in different body parts, making differential diagnosis difficult. Now, a newly developed liquid biopsy for solid tumors could be highly beneficial in cases where surgery or a tissue biopsy is not possible, potentially enabling more targeted diagnoses.

Pediatric tumors and adult tumors exhibit different genetic makeups, necessitating the development of specific tests for the former. Adult tumors usually result from mutations or sequence-based changes in a gene, resulting in the development of liquid biopsy tests that specifically identify such mutations. However, pediatric tumors caused by mutations are less common. Instead, children's tumors tend to be characterized by copy number changes- having extra or losing copies of one or more genes- or rearrangements of genes resulting in gene fusions. For their research study, investigators at Children’s Hospital Los Angeles (Los Angeles, CA, USA) combined a technique known as Low-Pass Whole Genome Sequencing (LP-WGS) with targeted sequencing of cell-free DNA from plasma to detect copy number changes, as well as mutations and gene fusions, which are typical of pediatric solid tumors. Importantly, the study required a much smaller volume of sample as compared to that required for liquid biopsy studies in adults. The smaller blood volume in an infant or young child required the assays to be scaled down in order to adjust for this difference.

In November 2022, the initial version of the test was released, enabling the evaluation of chromosomal copy number changes in blood samples, cerebrospinal fluid, and the aqueous humor of the eye to support clinical diagnoses of patients with solid tumors, retinoblastoma, and brain tumors, respectively. The upcoming version of the clinical assay, estimated for release in approximately six months, will include the detection of gene fusions and mutations. These liquid biopsy-based genetic tests will add to the CHLA-developed OncoKids cancer panel, a next-generation sequencing-based assay to detect changes in DNA or RNA related to pediatric leukemias, brain and solid tumors; the CHLA Cancer Predisposition Panel; RNAseq for cancer, a transcriptome-based assay using RNA sequencing; VMD4Kids, a panel for vascular and mosaic disorders; as well as methylation array-based profiling for pediatric brain tumors.

“This is one of the first clinically validated liquid biopsy tests to be launched at a pediatric academic medical center,” said Jaclyn Biegel, PhD, Chief of Genomic Medicine and Director of the Center for Personalized Medicine at CHLA.

“We created a test that may be helpful in making a diagnosis, determining prognosis, and potentially identifying an effective therapy for children with solid tumors,” added Fariba Navid, MD, Medical Director of Clinical Research in the Cancer and Blood Disease Institute at CHLA.

Related Links:
Children’s Hospital Los Angeles

Platinum Member
Flu SARS-CoV-2 Combo Test
OSOM® Flu SARS-CoV-2 Combo Test
Magnetic Bead Separation Modules
Complement 3 (C3) Test
GPP-100 C3 Kit
Gold Member
Liquid Ready-To-Use Lp(a) Reagent
Lipoprotein (a) Reagent

Print article


Clinical Chemistry

view channel
Image: The new ADLM guidance will help healthcare professionals navigate respiratory virus testing in a post-COVID world (Photo courtesy of 123RF)

New ADLM Guidance Provides Expert Recommendations on Clinical Testing For Respiratory Viral Infections

Respiratory tract infections, predominantly caused by viral pathogens, are a common reason for healthcare visits. Accurate and swift diagnosis of these infections is essential for optimal patient management.... Read more


view channel
Image: The CAPILLARYS 3 DBS devices have received U.S. FDA 510(k) clearance (Photo courtesy of Sebia)

Next Generation Instrument Screens for Hemoglobin Disorders in Newborns

Hemoglobinopathies, the most widespread inherited conditions globally, affect about 7% of the population as carriers, with 2.7% of newborns being born with these conditions. The spectrum of clinical manifestations... Read more


view channel
Image: For 46 years, Roche and Hitachi have collaborated to deliver innovative diagnostic solutions (Photo courtesy of Roche)

Roche and Hitachi High-Tech Extend 46-Year Partnership for Breakthroughs in Diagnostic Testing

Roche (Basel, Switzerland) and Hitachi High-Tech (Tokyo, Japan) have renewed their collaboration agreement, committing to a further 10 years of partnership. This extension brings together their long-standing... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.