2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Identification of NF1-associated Tumor Mutations in Plasma cfDNA and its Clinical Application

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This study aimed to develop a liquid biopsy assay for monitoring treatment response and early detection of malignant tumors in patients with neurofibromatosis type 1 (NF1). The researchers collected blood samples from 15 NF1 patients and extracted plasma cfDNA using a specific kit. They developed an in-house designed panel to interrogate 20 genes commonly mutated in NF1-related malignancies. The panel was enriched using a PCR method and sequenced using Illumina NovaSeq 6000. The sequence data were processed using Archer Analytics v6.2.<br /><br />The study demonstrated that the liquid biopsy assay could detect tumor mutations in plasma cfDNA from NF1-associated tumors. The researchers suggest that this assay has the potential to be used in clinical settings to monitor treatment response, catch early tumor relapse, and aid in precision cancer care for NF1 patients with malignant tumors. It may also help with early detection of malignant transformation in NF1 patients.<br /><br />However, the researchers conclude that additional studies are needed to validate the clinical utility of this assay in a larger cohort of NF1 patients. Overall, this study provides promising results for the use of liquid biopsy in NF1 patients and suggests its potential in improving patient care and outcomes in this population.

Asset Subtitle

Presenting Author - Feng Xu, PhD; Co-Author - Ariel Long, B.S.; Co-Author - Matthew Lueder, M.S.; Co-Author - Kajia Cao, Ph.D.; Co-Author - Weixuan Fu, MS; Co-Author - Zhiqian Fan, MS; Co-Author - Mateusz Koptyra, PhD; Co-Author - Jessica B. Foster, MD; Co-Author - Thomas De Raedt, PhD; Co-Author - Chelsea Kotch, MD; Co-Author - Michael J. Fisher, MD; Co-Author - Marilyn M. Li, M.D., FACMG;

Meta Tag

Cancer Syndromes

Cell free DNA/cfDNA

Genetic Testing

Genome sequencing

Genomic Methodologies

Methodology

NextGen Sequencing

Pathology

Risk Assessment

Sequencing

Co-Author Ariel Long, B.S.

Co-Author Matthew Lueder, M.S.

Co-Author Kajia Cao, Ph.D.

Co-Author Weixuan Fu, MS

Co-Author Zhiqian Fan, MS

Co-Author Mateusz Koptyra, PhD

Co-Author Jessica B. Foster, MD

Co-Author Thomas De Raedt, PhD

Co-Author Chelsea Kotch, MD

Co-Author Michael J. Fisher, MD

Co-Author Marilyn M. Li, M.D., FACMG

Presenting Author Feng Xu, PhD

Keywords

liquid biopsy assay

treatment response

malignant tumors

neurofibromatosis type 1

NF1

blood samples

plasma cfDNA

gene mutations

clinical settings

precision cancer care