P486: Cell-free DNA testing for early detection of malignant peripheral nerve sheath tumors among adults with neurofibromatosis type 1: A Delphi study*

Genetics in Medicine Open 2026 Open access

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Authors: Vanessa L. Merker, David N. Miller, Hadley Smith, Ramesh Lamsal
DOI: 10.1016/j.gimo.2026.103978
Cited by: 0

Abstract

Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome that affects approximately 1 in 3,000 live births worldwide. Malignant peripheral nerve sheath tumors (MPNSTs) develop in 8 to 26% of patients with NF1 and are the leading cause of premature death. MPNSTs arise from benign plexiform neurofibromas (PNs) through a premalignant intermediate state called atypical neurofibroma neoplasm with uncertain biological potential (ANNUBP). Cell-free DNA (cfDNA) testing through liquid biopsy is a non-invasive method that can differentiate MPNSTs from benign PNs and ANNUBPs and guide timely intervention.

Fields of Study & Subjects

Neurofibromatosis and Schwannoma Cases Cancer Genomics and Diagnostics Neuroblastoma Research and Treatments

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103978–103978
Publication date
1 January 2026
Language
EN