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Circulating tumor DNA for malignant peripheral nerve sheath tumors in neurofibromatosis type 1

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Abstract

Purpose

The leading cause of early death in patients with neurofibromatosis type 1 (NF1) is malignant peripheral nerve sheath tumor (MPNST). The principles of management include early diagnosis, surgical clearance and close monitoring for tumor recurrence. Current methods for diagnosis, detection of residual disease and monitoring tumor burden are inadequate, as clinical and radiological features are non-specific for malignancy in patients with multiple tumors and lack the sensitivity to identify early evidence of malignant transformation or tumor recurrence. Circulating tumor DNA (ctDNA) is a promising tool in cancer management and has the potential to improve the care of patients with NF1. In the following article we summarise the current understanding of the genomic landscape of MPNST, report on the previous literature of ctDNA in MPNST and outline the potential clinical applications for ctDNA in NF1 associated MPNST. Finally, we describe our prospective cohort study protocol investigating the utility of using ctDNA as an early diagnostic tool for MPNSTs in NF1 patients.

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Author information

Authors and Affiliations

  1. Department of Surgery, University of Melbourne, Melbourne, VIC, Australia

    Jordan Jones, Peter F. M. Choong, Andrew P. Morokoff & Kate J. Drummond

  2. Department of Neurosurgery, Royal Melbourne Hospital, Melbourne, VIC, 3050, Australia

    Jordan Jones, Sarah Cain, Jonathan Pesic-Smith, Andrew P. Morokoff & Kate J. Drummond

  3. Department of Orthopaedics, St Vincent’s Hospital, Melbourne, VIC, Australia

    Peter F. M. Choong

  4. Bone and Soft Tissue Sarcoma Service, Perter MacCallum Cancer Centre, Melbourne, VIC, Australia

    Peter F. M. Choong

  5. Department of Neurology, Royal Children’s Hospital, Melbourne, VIC, Australia

    Gabriel Dabscheck

  6. Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Gabriel Dabscheck

Authors
  1. Jordan Jones
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  2. Sarah Cain
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  3. Jonathan Pesic-Smith
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  4. Peter F. M. Choong
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  5. Andrew P. Morokoff
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  6. Kate J. Drummond
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  7. Gabriel Dabscheck
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Contributions

Conception, planning: GD, KD. Writing & editing manuscript: JJ, SC, JPS, PC, AM, KD, GD.

Corresponding author

Correspondence to Jordan Jones.

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Jones, J., Cain, S., Pesic-Smith, J. et al. Circulating tumor DNA for malignant peripheral nerve sheath tumors in neurofibromatosis type 1. J Neurooncol 154, 265–274 (2021). https://doi.org/10.1007/s11060-021-03846-z

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  • DOI: https://doi.org/10.1007/s11060-021-03846-z

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