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Erschienen in: Current Neurology and Neuroscience Reports 3/2018

01.03.2018 | Neuro-Oncology (LE Abrey, Section Editor)

Liquid Biopsy in Primary Brain Tumors: Looking for Stardust!

verfasst von: Maxime Fontanilles, Alberto Duran-Peña, Ahmed Idbaih

Erschienen in: Current Neurology and Neuroscience Reports | Ausgabe 3/2018

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Abstract

Purpose of Review

Personalized medicine is a challenge to improve survival and quality of life of patients suffering from primary malignant brain tumor. Molecular biology is integrated in initial diagnosis and relapse, and, in the nearest future, over treatment schedule and monitoring. Liquid biopsy is a minimally invasive way to obtain tumor material.

Recent Findings

Over the past years, three fluids have been explored to provide tumor information in primary malignant brain tumor: blood, cerebrospinal fluid, and vitreous liquid. Different tumor components were identified: (1) circulating tumor cells, (2) circulating tumor DNA, (3) RNA and non-coding miRNA, and (4) extracellular vesicles. The performance of the liquid biopsy depends on the tumor type and on the method of detection.

Summary

Liquid biopsy could be a valuable tool to improve patient care in primary malignant brain tumor. Improvement of its sensitivity is the major challenge to generalize its use in daily practice.
Literatur
6.
7.
Zurück zum Zitat Gan HK, Reardon DA, Lassman AB, Merrell R, van den Bent M, Butowski N, et al. Safety, pharmacokinetics and antitumor response of depatuxizumab mafodotin as monotherapy or in combination with temozolomide in patients with glioblastoma. Neuro-Oncology. 2017; https://doi.org/10.1093/neuonc/nox202. Gan HK, Reardon DA, Lassman AB, Merrell R, van den Bent M, Butowski N, et al. Safety, pharmacokinetics and antitumor response of depatuxizumab mafodotin as monotherapy or in combination with temozolomide in patients with glioblastoma. Neuro-Oncology. 2017; https://​doi.​org/​10.​1093/​neuonc/​nox202.
16.
Zurück zum Zitat • Sullivan JP, Nahed BV, Madden MW, Oliveira SM, Springer S, Bhere D, et al. Brain tumor cells in circulation are enriched for mesenchymal gene expression. Cancer Discov. 2014;4:1299–309. This study provides evidence of release of tumor cells in blood in GBM and highlights that the release mechanism is dependent on a phenotype modification. CrossRefPubMedPubMedCentral • Sullivan JP, Nahed BV, Madden MW, Oliveira SM, Springer S, Bhere D, et al. Brain tumor cells in circulation are enriched for mesenchymal gene expression. Cancer Discov. 2014;4:1299–309. This study provides evidence of release of tumor cells in blood in GBM and highlights that the release mechanism is dependent on a phenotype modification. CrossRefPubMedPubMedCentral
17.
Zurück zum Zitat • Macarthur KM, Kao GD, Chandrasekaran S, Alonso-Basanta M, Chapman C, Lustig RA, et al. Detection of brain tumor cells in the peripheral blood by a telomerase promoter-based assay. Cancer Res. 2014;74:2152–9. This study develops an original method to detect circulating tumor cells in plasma. CrossRefPubMedPubMedCentral • Macarthur KM, Kao GD, Chandrasekaran S, Alonso-Basanta M, Chapman C, Lustig RA, et al. Detection of brain tumor cells in the peripheral blood by a telomerase promoter-based assay. Cancer Res. 2014;74:2152–9. This study develops an original method to detect circulating tumor cells in plasma. CrossRefPubMedPubMedCentral
18.
Zurück zum Zitat • Schwaederle M, Chattopadhyay R, Kato S, Fanta PT, Banks KC, Choi IS, et al. Genomic alterations in circulating tumor DNA from diverse cancer patients identified by next-generation sequencing. Cancer Res. 2017;77:5419–27. This study highlights that a targeted NGS panel permits to detect somatic mutations and among them, targetable alterations, in plasma in PMBT. CrossRefPubMed • Schwaederle M, Chattopadhyay R, Kato S, Fanta PT, Banks KC, Choi IS, et al. Genomic alterations in circulating tumor DNA from diverse cancer patients identified by next-generation sequencing. Cancer Res. 2017;77:5419–27. This study highlights that a targeted NGS panel permits to detect somatic mutations and among them, targetable alterations, in plasma in PMBT. CrossRefPubMed
20.
Zurück zum Zitat Hattori K, Sakata-Yanagimoto M, Suehara Y, Yokoyama Y, Kato T, Kurita N, et al. Clinical significance of disease-specific MYD88 mutations in circulating DNA in primary central nervous system lymphoma. Cancer Sci. 2017; Hattori K, Sakata-Yanagimoto M, Suehara Y, Yokoyama Y, Kato T, Kurita N, et al. Clinical significance of disease-specific MYD88 mutations in circulating DNA in primary central nervous system lymphoma. Cancer Sci. 2017;
22.
Zurück zum Zitat • Manda SV, Kataria Y, Tatireddy BR, Ramakrishnan B, Ratnam BG, Lath R, et al. Exosomes as a biomarker platform for detecting epidermal growth factor receptor-positive high-grade gliomas. J. Neurosurg. 2017;1–11. This study highlights the use of exosomes in blood to identify high grade glioma using EGFR amplification. • Manda SV, Kataria Y, Tatireddy BR, Ramakrishnan B, Ratnam BG, Lath R, et al. Exosomes as a biomarker platform for detecting epidermal growth factor receptor-positive high-grade gliomas. J. Neurosurg. 2017;1–11. This study highlights the use of exosomes in blood to identify high grade glioma using EGFR amplification.
23.
Zurück zum Zitat • Figueroa JM, Skog J, Akers J, Li H, Komotar R, Jensen R, et al. Detection of wild-type EGFR amplification and EGFRvIII mutation in CSF-derived extracellular vesicles of glioblastoma patients. Neuro-Oncol. 2017;19:1494–502. This study is the first to report the two most common EGFR alterations in CSF. CrossRefPubMed • Figueroa JM, Skog J, Akers J, Li H, Komotar R, Jensen R, et al. Detection of wild-type EGFR amplification and EGFRvIII mutation in CSF-derived extracellular vesicles of glioblastoma patients. Neuro-Oncol. 2017;19:1494–502. This study is the first to report the two most common EGFR alterations in CSF. CrossRefPubMed
24.
Zurück zum Zitat • Huang TY, Piunti A, Lulla RR, Qi J, Horbinski CM, Tomita T, et al. Detection of Histone H3 mutations in cerebrospinal fluid-derived tumor DNA from children with diffuse midline glioma. Acta Neuropathol Commun. 2017;5:28. This study describes for the first time the detection of histone mutations H3 in CSF in children and opens the possibility to perform this method in midline gliomas in adults, which are particularly difficult to access surgically. CrossRefPubMedPubMedCentral • Huang TY, Piunti A, Lulla RR, Qi J, Horbinski CM, Tomita T, et al. Detection of Histone H3 mutations in cerebrospinal fluid-derived tumor DNA from children with diffuse midline glioma. Acta Neuropathol Commun. 2017;5:28. This study describes for the first time the detection of histone mutations H3 in CSF in children and opens the possibility to perform this method in midline gliomas in adults, which are particularly difficult to access surgically. CrossRefPubMedPubMedCentral
28.
Zurück zum Zitat Stroun M, Lyautey J, Lederrey C, Olson-Sand A, Anker P. About the possible origin and mechanism of circulating DNA apoptosis and active DNA release. Clin Chim Acta. 2001;313:139–42.CrossRefPubMed Stroun M, Lyautey J, Lederrey C, Olson-Sand A, Anker P. About the possible origin and mechanism of circulating DNA apoptosis and active DNA release. Clin Chim Acta. 2001;313:139–42.CrossRefPubMed
29.
Zurück zum Zitat Jahr S, Hentze H, Englisch S, Hardt D, Fackelmayer FO, Hesch RD, et al. DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells. Cancer Res. 2001;61(4):1659–65.PubMed Jahr S, Hentze H, Englisch S, Hardt D, Fackelmayer FO, Hesch RD, et al. DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells. Cancer Res. 2001;61(4):1659–65.PubMed
38.
Zurück zum Zitat • De Mattos-Arruda L, Mayor R, CKY N, Weigelt B, Martínez-Ricarte F, Torrejon D, et al. Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma. Nat Commun. 2015;6:8839. This study was the first to compare diagnostic performance between blood and CSF using NGS in PMBT. CrossRefPubMedPubMedCentral • De Mattos-Arruda L, Mayor R, CKY N, Weigelt B, Martínez-Ricarte F, Torrejon D, et al. Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma. Nat Commun. 2015;6:8839. This study was the first to compare diagnostic performance between blood and CSF using NGS in PMBT. CrossRefPubMedPubMedCentral
40.
Zurück zum Zitat Boisselier B, Gállego Pérez-Larraya J, Rossetto M, Labussière M, Ciccarino P, Marie Y, et al. Detection of IDH1 mutation in the plasma of patients with glioma. Neurology. 2012;79:1693–8.CrossRefPubMed Boisselier B, Gállego Pérez-Larraya J, Rossetto M, Labussière M, Ciccarino P, Marie Y, et al. Detection of IDH1 mutation in the plasma of patients with glioma. Neurology. 2012;79:1693–8.CrossRefPubMed
49.
Zurück zum Zitat Ruivo CF, Adem B, Silva M, Melo SA. The biology of cancer exosomes: insights and new perspectives. Cancer Res. 2017; Ruivo CF, Adem B, Silva M, Melo SA. The biology of cancer exosomes: insights and new perspectives. Cancer Res. 2017;
55.
Zurück zum Zitat Baraniskin A, Zaslavska E, Nöpel-Dünnebacke S, Ahle G, Seidel S, Schlegel U, et al. Circulating U2 small nuclear RNA fragments as a novel diagnostic biomarker for primary central nervous system lymphoma. Neuro-Oncology. 2015; Baraniskin A, Zaslavska E, Nöpel-Dünnebacke S, Ahle G, Seidel S, Schlegel U, et al. Circulating U2 small nuclear RNA fragments as a novel diagnostic biomarker for primary central nervous system lymphoma. Neuro-Oncology. 2015;
57.
Zurück zum Zitat Pochat-Cotilloux C, Bienvenu J, Nguyen A-M, Ohanessian R, Ghesquières H, Sève P, et al. Use of a threshold of interleukin-10 and IL-10/IL-6 ratio in ocular samples for the screening of vitreoretinal lymphoma. Retina (Philadelphia, Pa). 2017; Pochat-Cotilloux C, Bienvenu J, Nguyen A-M, Ohanessian R, Ghesquières H, Sève P, et al. Use of a threshold of interleukin-10 and IL-10/IL-6 ratio in ocular samples for the screening of vitreoretinal lymphoma. Retina (Philadelphia, Pa). 2017;
59.
Zurück zum Zitat Noel N, Couteau J, Maillet G, Gobet F, D’Aloisio F, Minier C, et al. TP53 and FGFR3 gene mutation assessment in urine: pilot study for bladder cancer diagnosis. Anticancer Res. 2015;35(9):4915–21.PubMed Noel N, Couteau J, Maillet G, Gobet F, D’Aloisio F, Minier C, et al. TP53 and FGFR3 gene mutation assessment in urine: pilot study for bladder cancer diagnosis. Anticancer Res. 2015;35(9):4915–21.PubMed
61.
Zurück zum Zitat Botezatu I, Serdyuk O, Potapova G, Shelepov V, Alechina R, Molyaka Y, et al. Genetic analysis of DNA excreted in urine: a new approach for detecting specific genomic DNA sequences from cells dying in an organism. Clin Chem. 2000;46(8 Pt 1):1078–84.PubMed Botezatu I, Serdyuk O, Potapova G, Shelepov V, Alechina R, Molyaka Y, et al. Genetic analysis of DNA excreted in urine: a new approach for detecting specific genomic DNA sequences from cells dying in an organism. Clin Chem. 2000;46(8 Pt 1):1078–84.PubMed
67.
Zurück zum Zitat • Underhill HR, Kitzman JO, Hellwig S, Welker NC, Daza R, Baker DN, et al. Fragment length of circulating tumor DNA. PLoS Genet. 2016;12:e1006162. This study explores the mechanism of release of ctDNA in plasma in GBM and provides tools to improve detection method in future studies. CrossRefPubMedPubMedCentral • Underhill HR, Kitzman JO, Hellwig S, Welker NC, Daza R, Baker DN, et al. Fragment length of circulating tumor DNA. PLoS Genet. 2016;12:e1006162. This study explores the mechanism of release of ctDNA in plasma in GBM and provides tools to improve detection method in future studies. CrossRefPubMedPubMedCentral
69.
Zurück zum Zitat Leng S, Zheng J, Jin Y, Zhang H, Zhu Y, Wu J, et al. Plasma cell-free DNA level and its integrity as biomarkers to distinguish non-small cell lung cancer from tuberculosis. Clin Chim Acta. 2017; Leng S, Zheng J, Jin Y, Zhang H, Zhu Y, Wu J, et al. Plasma cell-free DNA level and its integrity as biomarkers to distinguish non-small cell lung cancer from tuberculosis. Clin Chim Acta. 2017;
70.
Zurück zum Zitat Best MG, Sol N, In ‘t Veld SGJG, Vancura A, Muller M, A-LN N, et al. Swarm intelligence-enhanced detection of non-small-cell lung cancer using tumor-educated platelets. Cancer Cell. 2017;32:238–252.e9.CrossRefPubMed Best MG, Sol N, In ‘t Veld SGJG, Vancura A, Muller M, A-LN N, et al. Swarm intelligence-enhanced detection of non-small-cell lung cancer using tumor-educated platelets. Cancer Cell. 2017;32:238–252.e9.CrossRefPubMed
Metadaten
Titel
Liquid Biopsy in Primary Brain Tumors: Looking for Stardust!
verfasst von
Maxime Fontanilles
Alberto Duran-Peña
Ahmed Idbaih
Publikationsdatum
01.03.2018
Verlag
Springer US
Erschienen in
Current Neurology and Neuroscience Reports / Ausgabe 3/2018
Print ISSN: 1528-4042
Elektronische ISSN: 1534-6293
DOI
https://doi.org/10.1007/s11910-018-0820-z

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