Plasma DNA Methylation‐Based Biomarkers for MPNST Detection in Patients With Neurofibromatosis Type 1

  • Published on 03/07/2025
  •  Reading time: 6 min.

Katarzyna Tomczak 1,2, Manishkumar S. Patel 3, Angela D. Bhalla 1, Christine B. Peterson 4, Sharon M. Landers 1, S. Carson Callahan 2, Di Zhang 5, Justin Wong 5, Jace P. Landry 1, Alexander J. Lazar 6, J. Andrew Livingston 7, B. Ashleigh Guadagnolo 8, Heather G. Lyu 1, Heather Lillemoe 1, Christina L. Roland 1, Emily Z. Keung 1, Christopher P. Scally 1, Kelly K. Hunt 9, Ian E. McCutcheon 10, John M. Slopis 11, Jian Gu 5, Paul Scheet 5, Liang Wang 3, Kunal Rai 2, Keila E. Torres 1,2

1 Department of Surgical Oncology The University of Texas MD Anderson Cancer Center Houston Texas USA
2 Department of Genomic Medicine The University of Texas MD Anderson Cancer Center Houston Texas USA
3 Department of Tumor Microenvironment and Metastasis H. Lee Moffitt Cancer Center and Research Institute Tampa Florida USA
4 Department of Biostatistics The University of Texas MD Anderson Cancer Center Houston Texas USA
5 Department of Epidemiology The University of Texas MD Anderson Cancer Center Houston Texas USA
6 Department of Pathology The University of Texas MD Anderson Cancer Center Houston Texas USA
7 Department of Sarcoma Medical Oncology The University of Texas MD Anderson Cancer Center Houston Texas USA
8 Department of Radiation Oncology The University of Texas MD Anderson Cancer Center Houston Texas USA
9 Department of Breast Surgical Oncology The University of Texas MD Anderson Cancer Center Houston Texas USA
10 Department of Neurosurgery The University of Texas MD Anderson Cancer Center Houston Texas USA
11 Department of Neuro‐Oncology The University of Texas MD Anderson Cancer Center Houston Texas USA

Abstract

Malignant peripheral nerve sheath tumor (MPNST) development is characterized by an altered DNA methylation landscape, which presents a promising area for developing MPNST‐specific biomarkers for screening patients with NF1. Genome‐wide DNA methylation profiling of a cohort of 13 patients with MPNST (29 samples of tumor and adjacent neurofibroma tissues) and of NF1‐MPNST cell lines was performed to identify and validate candidate MPNST‐specific CpG sites...

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