Michael T Bounajem1, Michael Karsy2, Randy L Jensen2. 1. 1Long School of Medicine, University of Texas Health, San Antonio, Texas; and. 2. 2Department of Neurosurgery, Clinical Neurosciences Center, University of Utah, Salt Lake City, Utah.
Abstract
OBJECTIVE: Primary brain tumors are the most common cause of cancer-related deaths in children and pose difficult questions for the treating physician regarding issues such as the risk/benefit of performing a biopsy, the accuracy of monitoring methods, and the availability of prognostic indicators. It has been recently shown that tumor-specific DNA and proteins can be successfully isolated in liquid biopsies, and it may be possible to exploit this potential as a particularly useful tool for the clinician in addressing these issues. METHODS: A review of the current literature was conducted by searching PubMed and Scopus. MeSH terms for the search included "liquid biopsy," "brain," "tumor," and "pediatrics" in all fields. Articles were reviewed to identify the type of brain tumor involved, the method of tumor DNA/protein analysis, and the potential clinical utility. All articles involving primary studies of pediatric brain tumors were included, but reviews were excluded. RESULTS: The successful isolation of circulating tumor DNA (ctDNA), extracellular vesicles, and tumor-specific proteins from liquid biopsies has been consistently demonstrated. This most commonly occurs through CSF analysis, but it has also been successfully demonstrated using plasma and urine samples. Tumor-related gene mutations and alterations in protein expression are identifiable and, in some cases, have been correlated to specific neoplasms. The quantity of ctDNA isolated also appears to have a direct relationship with tumor progression and response to treatment. CONCLUSIONS: The use of liquid biopsies for the diagnosis and monitoring of primary pediatric brain tumors is a foreseeable possibility, as the requisite developmental steps have largely been demonstrated. Increasingly advanced molecular methods are being developed to improve the identification of tumor subtypes and tumor grades, and they may offer a method for monitoring treatment response. These minimally invasive markers will likely be used in the clinical treatment of pediatric brain tumors in the future.
OBJECTIVE:Primary brain tumors are the most common cause of cancer-related deaths in children and pose difficult questions for the treating physician regarding issues such as the risk/benefit of performing a biopsy, the accuracy of monitoring methods, and the availability of prognostic indicators. It has been recently shown that tumor-specific DNA and proteins can be successfully isolated in liquid biopsies, and it may be possible to exploit this potential as a particularly useful tool for the clinician in addressing these issues. METHODS: A review of the current literature was conducted by searching PubMed and Scopus. MeSH terms for the search included "liquid biopsy," "brain," "tumor," and "pediatrics" in all fields. Articles were reviewed to identify the type of brain tumor involved, the method of tumor DNA/protein analysis, and the potential clinical utility. All articles involving primary studies of pediatric brain tumors were included, but reviews were excluded. RESULTS: The successful isolation of circulating tumor DNA (ctDNA), extracellular vesicles, and tumor-specific proteins from liquid biopsies has been consistently demonstrated. This most commonly occurs through CSF analysis, but it has also been successfully demonstrated using plasma and urine samples. Tumor-related gene mutations and alterations in protein expression are identifiable and, in some cases, have been correlated to specific neoplasms. The quantity of ctDNA isolated also appears to have a direct relationship with tumor progression and response to treatment. CONCLUSIONS: The use of liquid biopsies for the diagnosis and monitoring of primary pediatric brain tumors is a foreseeable possibility, as the requisite developmental steps have largely been demonstrated. Increasingly advanced molecular methods are being developed to improve the identification of tumor subtypes and tumor grades, and they may offer a method for monitoring treatment response. These minimally invasive markers will likely be used in the clinical treatment of pediatric brain tumors in the future.
Authors: Riccardo Soffietti; Chetan Bettegowda; Ingo K Mellinghoff; Katherine E Warren; Manmeet S Ahluwalia; John F De Groot; Evanthia Galanis; Mark R Gilbert; Kurt A Jaeckle; Emilie Le Rhun; Roberta Rudà; Joan Seoane; Niklas Thon; Yoshie Umemura; Michael Weller; Martin J van den Bent; Michael A Vogelbaum; Susan M Chang; Patrick Y Wen Journal: Neuro Oncol Date: 2022-06-01 Impact factor: 13.029
Authors: Rebecca M Hill; Sabine L A Plasschaert; Beate Timmermann; Christelle Dufour; Kristian Aquilina; Shivaram Avula; Laura Donovan; Maarten Lequin; Torsten Pietsch; Ulrich Thomale; Stephan Tippelt; Pieter Wesseling; Stefan Rutkowski; Steven C Clifford; Stefan M Pfister; Simon Bailey; Gudrun Fleischhack Journal: Cancers (Basel) Date: 2021-12-28 Impact factor: 6.575