Beyond the Blood: CSF-Derived cfDNA for Diagnosis and Characterization of CNS Tumors

Frontiers in Cell and Developmental Biology
Abbye E McEwenChristina M Lockwood

Abstract

Genetic data are rapidly becoming part of tumor classification and are integral to prognosis and predicting response to therapy. Current molecular tumor profiling relies heavily on tissue resection or biopsy. Tissue profiling has several disadvantages in tumors of the central nervous system, including the challenge associated with invasive biopsy, the heterogeneous nature of many malignancies where a small biopsy can underrepresent the mutational profile, and the frequent lack of obtaining a repeat biopsy, which limits routine monitoring to assess therapy response and/or tumor evolution. Circulating tumor, cell-free DNA (cfDNA), has been proposed as a liquid biopsy to address some limitations of tissue-based genetics. In cancer patients, a portion of cfDNA is tumor-derived and may contain somatic genetic alterations. In central nervous system (CNS) neoplasia, plasma tumor-derived cfDNA is very low or absent, likely due to the blood brain barrier. Interrogating cfDNA in cerebrospinal fluid (CSF) has several advantages. Compared to blood, CSF is paucicellular and therefore predominantly lacks non-tumor cfDNA; however, patients with CNS-limited tumors have significantly enriched tumor-derived cfDNA in CSF. In patients with metasta...Continue Reading

References

Mar 8, 2000·American Journal of Clinical Pathology·S Narayanan
Dec 15, 2000·Medical Oncology·W A HallK H Cho
Jul 15, 2003·Proceedings of the National Academy of Sciences of the United States of America·Devin DressmanBert Vogelstein
Mar 11, 2005·The New England Journal of Medicine·Monika E HegiRoger Stupp
Feb 8, 2006·Acta Neuropathologica·Arie Perry, Robert E Schmidt
Sep 23, 2009·Current Opinion in Neurology·Dieta Brandsma, Martin J van den Bent
May 5, 2010·Neurology·J L ClarkeL M Deangelis
Sep 13, 2011·PloS One·Florent MouliereAlain R Thierry
Mar 9, 2012·The New England Journal of Medicine·Marco GerlingerCharles Swanton
May 29, 2012·World Neurosurgery·Raymund L Yong, Russell R Lonser
Jun 1, 2012·Science Translational Medicine·Tim ForshewNitzan Rosenfeld
Oct 5, 2012·Neurology·Blandine BoisselierMarc Sanson
Jan 16, 2013·International Journal of Cancer. Journal International Du Cancer·Ellen HeitzerMichael R Speicher
Feb 16, 2013·Proceedings of the National Academy of Sciences of the United States of America·Andrea SottorivaSimon Tavaré
Feb 21, 2014·Science Translational Medicine·Chetan BettegowdaLuis A Diaz
Jan 22, 2015·Clinical Chemistry·Wenying PanStephen R Quake
Apr 18, 2015·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Masaru WatanabeYasuhiro Koh
May 27, 2015·World Neurosurgery·Hani MaloneAlfred I Neugut
Jun 27, 2015·Neuropathology and Applied Neurobiology·T NakamuraK Ichimura
Jul 17, 2015·JAMA Oncology·Ganesh M ShankarMatthew Meyerson
Jul 22, 2015·Proceedings of the National Academy of Sciences of the United States of America·Yuxuan WangChetan Bettegowda
Sep 10, 2015·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·C Dunham
Mar 29, 2016·Nature Biotechnology·Aaron M NewmanAsh A Alizadeh
May 11, 2016·British Journal of Haematology·Keiichiro HattoriShigeru Chiba
May 11, 2016·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Elena I PentsovaMichael F Berger
Nov 3, 2016·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Aleksandra OlowDaphne A Haas-Kogan
Jul 30, 2016·Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer·Martin ReckNicola Normanno
Nov 11, 2016·PloS One·Inga Medina DiazFrank Holtrup
Jan 6, 2017·CA: a Cancer Journal for Clinicians·Rebecca L SiegelAhmedin Jemal
Mar 21, 2017·BioMed Research International·Wojciech SzopaWojciech Kaspera
Apr 11, 2017·Nature Genetics·A Sorana MorrissyMichael D Taylor
Apr 19, 2017·Acta Neuropathologica Communications·Tina Y HuangAmanda M Saratsis

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Citations

Aug 29, 2020·Journal of Clinical Medicine·Alena LiskovaOlga Golubnitschaja
Jul 10, 2020·Neuro-oncology Advances·Thomas GraillonAnne Barlier
Oct 23, 2020·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Amy K BruzekCarl Koschmann
Nov 15, 2020·BMC Neurology·Sharon Yin Yee LowWan Tew Seow
Dec 3, 2020·Journal of Personalized Medicine·Sibylle Madlener, Johannes Gojo
Sep 1, 2021·Critical Reviews in Oncology/hematology·Sasimol UdomrukParunya Chaiyawat

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Methods Mentioned

BETA
biopsies
surgical resection
biopsy
PCR
flow
flow cytometry
blood collection
single gene sequencing
exome sequencing

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