Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Search PHGKB:

Last Posted: Mar 09, 2023
spot light Highlights

Combined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors
E Chistodoulou et al, NPJ Precision Oncology, February 20, 2023

We designed a liquid biopsy (LB) platform employing low-pass whole genome sequencing (LP-WGS) and targeted sequencing of cell-free (cf) DNA from plasma to detect genome-wide copy number alterations (CNAs) and gene fusions in pediatric solid tumors. A total of 143 plasma samples were analyzed from 19 controls and 73 patients, including 44 bone or soft-tissue sarcomas and 12 renal, 10 germ cell, five hepatic, and two thyroid tumors. cfDNA was isolated from plasma collected at diagnosis, during and after therapy, and/or at relapse.

Liquid Biopsy for Oral Cancer Diagnosis: Recent Advances and Challenges
Y Naito et al, J Per Med, February 8, 2023

Over the past two decades, liquid biopsy has been considered an attractive diagnostic tool for malignant tumors. Although biomarkers for oral cancer have not yet been adopted in clinical practice, many molecular candidates have been investigated for liquid biopsies in oral cancer diagnosis, such as the proteome, metabolome, microRNAome, extracellular vesicles, cell-free DNAs, and circulating tumor cells. This review will present recent advances and challenges in liquid biopsy for oral cancer diagnosis.

Postoperative circulating tumor DNA could guide CRC adjuvant treatment.
et al. Nature medicine 2023 1

Our findings signify a paradigm shift in how we manage patients with CRC after surgery. The GALAXY interim findings show that ctDNA positivity at 4 weeks after surgery is a strong prognostic marker that identifies a group of patients at high risk of both CRC recurrence and decreased DFS. This suggests that ctDNA status might have value as a surrogate end point or marker of treatment efficacy in clinical trials, which has the potential to considerably reduce trial duration and expedite the approval of new therapies in the future.

Molecular residual disease and efficacy of adjuvant chemotherapy in patients with colorectal cancer.
Kotani Daisuke et al. Nature medicine 2023 1

We report results from GALAXY, which is an observational arm of the ongoing CIRCULATE-Japan study (UMIN000039205) that analyzed presurgical and postsurgical ctDNA in patients with stage II–IV resectable CRC (n?=?1,039). In this cohort, with a median follow-up of 16.74 months (range 0.49–24.83 months), postsurgical ctDNA positivity (at 4?weeks after surgery) was associated with higher recurrence risk (hazard ratio (HR) 10.0, P?<?0.0001) and was the most significant prognostic factor associated with recurrence risk in patients with stage II or III CRC (HR 10.82, P?<?0.001).

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.