The pitfalls and promise of liquid biopsies for diagnosing and treating solid tumors in children: a review.
Cell-free DNA profiling
Liquid biopsies
Pediatric solid tumors
Journal
European journal of pediatrics
ISSN: 1432-1076
Titre abrégé: Eur J Pediatr
Pays: Germany
ID NLM: 7603873
Informations de publication
Date de publication:
Feb 2020
Feb 2020
Historique:
received:
29
09
2019
accepted:
04
12
2019
revised:
29
11
2019
pubmed:
4
1
2020
medline:
20
11
2020
entrez:
4
1
2020
Statut:
ppublish
Résumé
Cell-free DNA profiling using patient blood is emerging as a non-invasive complementary technique for cancer genomic characterization. Since these liquid biopsies will soon be integrated into clinical trial protocols for pediatric cancer treatment, clinicians should be informed about potential applications and advantages but also weaknesses and potential pitfalls. Small retrospective studies comparing genetic alterations detected in liquid biopsies with tumor biopsies for pediatric solid tumor types are encouraging. Molecular detection of tumor markers in cell-free DNA could be used for earlier therapy response monitoring and residual disease detection as well as enabling detection of pathognomonic and therapeutically relevant genomic alterations.Conclusion: Existing analyses of liquid biopsies from children with solid tumors increasingly suggest a potential relevance for molecular diagnostics, prognostic assessment, and therapeutic decision-making. Gaps remain in the types of tumors studied and value of detection methods applied. Here we review the current stand of liquid biopsy studies for pediatric solid tumors with a dedicated focus on cell-free DNA analysis. There is legitimate hope that integrating fully validated liquid biopsy-based innovations into the standard of care will advance patient monitoring and personalized treatment of children battling solid cancers.What is Known:• Liquid biopsies are finding their way into routine oncological screening, diagnosis, and disease monitoring in adult cancer types fast.• The most widely adopted source for liquid biopsies is blood although other easily accessible body fluids, such as saliva, pleural effusions, urine, or cerebrospinal fluid (CSF) can also serve as sources for liquid biopsiesWhat is New:• Retrospective proof-of-concept studies in small cohorts illustrate that liquid biopsies in pediatric solid tumors yield tremendous potential to be used in diagnostics, for therapy response monitoring and in residual disease detection.• Liquid biopsy diagnostics could tackle some long-standing issues in the pediatric oncology field; they can enable accurate genetic diagnostics in previously unbiopsied tumor types like renal tumors or brain stem tumors leading to better treatment strategies.
Identifiants
pubmed: 31897843
doi: 10.1007/s00431-019-03545-y
pii: 10.1007/s00431-019-03545-y
pmc: PMC6971142
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
191-202Commentaires et corrections
Type : ErratumIn
Références
Allyse M et al (2015) Non-invasive prenatal testing: a review of international implementation and challenges. Int J Women's Health 113. https://doi.org/10.2147/IJWH.S67124
Aravanis AM, Lee M, Klausner RD (2017) Next-generation sequencing of circulating tumor DNA for early cancer detection. Cell 168:571–574
pubmed: 28187279
doi: 10.1016/j.cell.2017.01.030
Badalian-Very G, Vergilio JA, Degar BA, MacConaill L, Brandner B, Calicchio ML, Kuo FC, Ligon AH, Stevenson KE, Kehoe SM, Garraway LA, Hahn WC, Meyerson M, Fleming MD, Rollins BJ (2010) Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 116:1919–1923
pubmed: 20519626
pmcid: 3173987
doi: 10.1182/blood-2010-04-279083
Barris DM et al (2018) Detection of circulating tumor DNA in patients with osteosarcoma. Oncotarget 9
Berry J et al (2017) Aqueous humor as a surrogate liquid tumor biopsy in retinoblastoma. ISOO 2017, Abstract 0028
Berry JL et al (2018) Genomic cfDNA analysis of aqueous humor in retinoblastoma predicts eye salvage: the surrogate tumor biopsy for retinoblastoma. Mol Cancer Res. https://doi.org/10.1158/1541-7786.MCR-18-0369
pubmed: 30061186
doi: 10.1158/1541-7786.MCR-18-0369
Bettegowda C et al (2014) Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med 6:224ra24
pubmed: 24553385
pmcid: 4017867
doi: 10.1126/scitranslmed.3007094
Bhatnagar S (2009) Management of Wilms’ tumor: NWTS vs SIOP. J Indian Assoc Pediatr Surg 14:6–14
pubmed: 20177436
pmcid: 2809467
doi: 10.4103/0971-9261.54811
Bruscaggin A et al (2017) Genotyping of classical Hodgkin lymphoma on the liquid biopsy. Hematol Oncol 35:64–65
doi: 10.1002/hon.2437_51
Burnham P et al (2018) Urinary cell-free DNA is a versatile analyte for monitoring infections of the urinary tract. Nat Commun 9:2412
pubmed: 29925834
pmcid: 6010457
doi: 10.1038/s41467-018-04745-0
Campana D (2010) Minimal residual disease in acute lymphoblastic leukemia. Hematology 2010:7–12
pubmed: 21239764
doi: 10.1182/asheducation-2010.1.7
Capper D, Jones DTW, Sill M, Hovestadt V, Schrimpf D, Sturm D, Koelsche C, Sahm F, Chavez L, Reuss DE, Kratz A, Wefers AK, Huang K, Pajtler KW, Schweizer L, Stichel D, Olar A, Engel NW, Lindenberg K, Harter PN, Braczynski AK, Plate KH, Dohmen H, Garvalov BK, Coras R, Hölsken A, Hewer E, Bewerunge-Hudler M, Schick M, Fischer R, Beschorner R, Schittenhelm J, Staszewski O, Wani K, Varlet P, Pages M, Temming P, Lohmann D, Selt F, Witt H, Milde T, Witt O, Aronica E, Giangaspero F, Rushing E, Scheurlen W, Geisenberger C, Rodriguez FJ, Becker A, Preusser M, Haberler C, Bjerkvig R, Cryan J, Farrell M, Deckert M, Hench J, Frank S, Serrano J, Kannan K, Tsirigos A, Brück W, Hofer S, Brehmer S, Seiz-Rosenhagen M, Hänggi D, Hans V, Rozsnoki S, Hansford JR, Kohlhof P, Kristensen BW, Lechner M, Lopes B, Mawrin C, Ketter R, Kulozik A, Khatib Z, Heppner F, Koch A, Jouvet A, Keohane C, Mühleisen H, Mueller W, Pohl U, Prinz M, Benner A, Zapatka M, Gottardo NG, Driever PH, Kramm CM, Müller HL, Rutkowski S, von Hoff K, Frühwald MC, Gnekow A, Fleischhack G, Tippelt S, Calaminus G, Monoranu CM, Perry A, Jones C, Jacques TS, Radlwimmer B, Gessi M, Pietsch T, Schramm J, Schackert G, Westphal M, Reifenberger G, Wesseling P, Weller M, Collins VP, Blümcke I, Bendszus M, Debus J, Huang A, Jabado N, Northcott PA, Paulus W, Gajjar A, Robinson GW, Taylor MD, Jaunmuktane Z, Ryzhova M, Platten M, Unterberg A, Wick W, Karajannis MA, Mittelbronn M, Acker T, Hartmann C, Aldape K, Schüller U, Buslei R, Lichter P, Kool M, Herold-Mende C, Ellison DW, Hasselblatt M, Snuderl M, Brandner S, Korshunov A, von Deimling A, Pfister SM (2018) DNA methylation-based classification of central nervous system tumours. Nature 555:469–474
pubmed: 29539639
pmcid: 6093218
doi: 10.1038/nature26000
Chen T et al (2016) Hotspot mutations delineating diverse mutational signatures and biological utilities across cancer types. BMC Genomics 17:394
pubmed: 27356755
pmcid: 4928158
doi: 10.1186/s12864-016-2727-x
Chicard M, Boyault S, Colmet Daage L, Richer W, Gentien D, Pierron G, Lapouble E, Bellini A, Clement N, Iacono I, Bréjon S, Carrere M, Reyes C, Hocking T, Bernard V, Peuchmaur M, Corradini N, Faure-Conter C, Coze C, Plantaz D, Defachelles AS, Thebaud E, Gambart M, Millot F, Valteau-Couanet D, Michon J, Puisieux A, Delattre O, Combaret V, Schleiermacher G (2016) Genomic copy number profiling using circulating free tumor DNA highlights heterogeneity in neuroblastoma. Clin Cancer Res 22:5564–5573
pubmed: 27440268
doi: 10.1158/1078-0432.CCR-16-0500
Chicard M et al (2017) Whole exome sequencing of cell-free DNA reveals temporo-spatial heterogeneity and identifies treatment-resistant clones in neuroblastoma. Clin Cancer Res 1586. https://doi.org/10.1158/1078-0432.CCR-17-1586
pubmed: 29191970
doi: 10.1158/1078-0432.CCR-17-1586
Clementi A, Virzì GM, Brocca A, Pastori S, de Cal M, Marcante S, Granata A, Ronco C (2016) The role of cell-free plasma DNA in critically ill patients with sepsis. Blood Purif 41:34–40
pubmed: 26960212
doi: 10.1159/000440975
Combaret V et al (2002) Circulating MYCN DNA as a tumor-specific marker in neuroblastoma patients. Cancer Res 62:3646–3648
pubmed: 12097268
Combaret V et al (2015) Detection of tumor ALK status in neuroblastoma patients using peripheral blood. Cancer Med 4:540–550
pubmed: 25653133
pmcid: 4402069
doi: 10.1002/cam4.414
Corrias MV et al (2018) Event-free survival of infants and toddlers enrolled in the HR-NBL-1/SIOPEN trial is associated with the level of neuroblastoma mRNAs at diagnosis. Pediatr Blood Cancer 65:e27052
pubmed: 29603574
doi: 10.1002/pbc.27052
Crompton BD, Stewart C, Taylor-Weiner A, Alexe G, Kurek KC, Calicchio ML, Kiezun A, Carter SL, Shukla SA, Mehta SS, Thorner AR, de Torres C, Lavarino C, Suñol M, McKenna A, Sivachenko A, Cibulskis K, Lawrence MS, Stojanov P, Rosenberg M, Ambrogio L, Auclair D, Seepo S, Blumenstiel B, DeFelice M, Imaz-Rosshandler I, Schwarz-Cruz Y Celis A, Rivera MN, Rodriguez-Galindo C, Fleming MD, Golub TR, Getz G, Mora J, Stegmaier K (2014) The genomic landscape of pediatric Ewing sarcoma. Cancer Discov 4:1326–1341
pubmed: 25186949
doi: 10.1158/2159-8290.CD-13-1037
De Koker A, Van Paemel R, De Wilde B, De Preter K, Callewaert N (2019) A versatile method for circulating cell-free DNA methylome profiling by reduced representation bisulfite sequencing. bioRxiv 663195. https://doi.org/10.1101/663195
De Mattos-Arruda L et al (2015) Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma. Nat Commun 6:8839
pubmed: 26554728
pmcid: 5426516
doi: 10.1038/ncomms9839
De Vlaminck I et al (2014) Circulating cell-free DNA enables noninvasive diagnosis of heart transplant rejection. Sci Transl Med 6:241ra77
pubmed: 24944192
pmcid: 4326260
doi: 10.1126/scitranslmed.3007803
El Messaoudi S, Rolet F, Mouliere F, Thierry AR (2013) Circulating cell free DNA: Preanalytical considerations. Clin Chim Acta 424:222–230
pubmed: 23727028
doi: 10.1016/j.cca.2013.05.022
Gerlinger M, Rowan AJ, Horswell S, Math M, Larkin J, Endesfelder D, Gronroos E, Martinez P, Matthews N, Stewart A, Tarpey P, Varela I, Phillimore B, Begum S, McDonald N, Butler A, Jones D, Raine K, Latimer C, Santos CR, Nohadani M, Eklund AC, Spencer-Dene B, Clark G, Pickering L, Stamp G, Gore M, Szallasi Z, Downward J, Futreal PA, Swanton C (2012) Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med 366:883–892
pubmed: 22397650
pmcid: 22397650
doi: 10.1056/NEJMoa1113205
Gielis EM, Ledeganck KJ, de Winter BY, del Favero J, Bosmans JL, Claas FH, Abramowicz D, Eikmans M (2015) Cell-free DNA: an upcoming biomarker in transplantation. Am J Transplant 15:2541–2551
pubmed: 26184824
doi: 10.1111/ajt.13387
Goodwin S, McPherson JD, McCombie WR (2016) Coming of age: ten years of next-generation sequencing technologies. Nat Rev Genet 17:333–351
pubmed: 27184599
doi: 10.1038/nrg.2016.49
Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, Zipprich G, Heinold M, Eils J, Lawerenz C, Erkek S, Lambo S, Waszak S, Blattmann C, Borkhardt A, Kuhlen M, Eggert A, Fulda S, Gessler M, Wegert J, Kappler R, Baumhoer D, Burdach S, Kirschner-Schwabe R, Kontny U, Kulozik AE, Lohmann D, Hettmer S, Eckert C, Bielack S, Nathrath M, Niemeyer C, Richter GH, Schulte J, Siebert R, Westermann F, Molenaar JJ, Vassal G, Witt H, ICGC PedBrain-Seq Project, ICGC MMML-Seq Project, Burkhardt B, Kratz CP, Witt O, van Tilburg C, Kramm CM, Fleischhack G, Dirksen U, Rutkowski S, Frühwald M, von Hoff K, Wolf S, Klingebiel T, Koscielniak E, Landgraf P, Koster J, Resnick AC, Zhang J, Liu Y, Zhou X, Waanders AJ, Zwijnenburg DA, Raman P, Brors B, Weber UD, Northcott PA, Pajtler KW, Kool M, Piro RM, Korbel JO, Schlesner M, Eils R, Jones DTW, Lichter P, Chavez L, Zapatka M, Pfister SM (2018) The landscape of genomic alterations across childhood cancers. Nature 555:321–327
pubmed: 29489754
doi: 10.1038/nature25480
Hartomo TB et al (2013) Minimal residual disease monitoring in neuroblastoma patients based on the expression of a set of real-time RT-PCR markers in tumor-initiating cells. Oncol Rep 29:1629–1636
pubmed: 23417100
doi: 10.3892/or.2013.2286
Hayashi M, Chu D, Meyer CF, Llosa NJ, McCarty G, Morris CD, Levin AS, Wolinsky JP, Albert CM, Steppan DA, Park BH, Loeb DM (2016) Highly personalized detection of minimal Ewing sarcoma disease burden from plasma tumor DNA. Cancer 122:3015–3023
pubmed: 27351911
pmcid: 5102400
doi: 10.1002/cncr.30144
Huang TY et al (2017) Detection of Histone H3 mutations in cerebrospinal fluid-derived tumor DNA from children with diffuse midline glioma. Acta Neuropathol Commun 5:28
pubmed: 28416018
pmcid: 5392913
doi: 10.1186/s40478-017-0436-6
Hunger SP, Mullighan CG (2015) Acute lymphoblastic leukemia in children. N Engl J Med 373:1541–1552
doi: 10.1056/NEJMra1400972
pubmed: 26465987
Jiménez I et al (2018) Circulating tumor DNA analysis enables molecular characterisation of pediatric renal tumors at diagnosis. Int J Cancer. https://doi.org/10.1002/ijc.31620
pubmed: 29923174
doi: 10.1002/ijc.31620
Jonkman-Berk BM, van den Berg J, ten Berge I, Bredius RG, Driessen GJ, Dalm VA, van Dissel J, van Deuren M, Ellerbroek PM, van der Flier M, van Hagen P, van Montfrans J, Rutgers A, Schölvinck EH, de Vries E, van Beem R, Kuijpers TW (2015) Primary immunodeficiencies in the Netherlands: National patient data demonstrate the increased risk of malignancy. Clin Immunol 156:154–162
pubmed: 25451158
doi: 10.1016/j.clim.2014.10.003
Kang Q, Henry NL, Paoletti C, Jiang H, Vats P, Chinnaiyan AM, Hayes DF, Merajver SD, Rae JM, Tewari M (2016) Comparative analysis of circulating tumor DNA stability In K3EDTA, Streck, and CellSave blood collection tubes. Clin Biochem 49:1354–1360
pubmed: 27129799
doi: 10.1016/j.clinbiochem.2016.03.012
Klega K et al (2018) Detection of somatic structural variants enables quantification and characterization of circulating tumor DNA in children with solid tumors. JCO Precis Oncol:1–13. https://doi.org/10.1200/PO.17.00285
Krumbholz M et al (2016) Genomic EWSR1 fusion sequence as highly sensitive and dynamic plasma tumor marker in Ewing sarcoma. Clin Cancer Res 22:4356–4365
pubmed: 27283964
doi: 10.1158/1078-0432.CCR-15-3028
Kurihara S, Ueda Y, Onitake Y, Sueda T, Ohta E, Morihara N, Hirano S, Irisuna F, Hiyama E (2015) Circulating free DNA as non-invasive diagnostic biomarker for childhood solid tumors. J Pediatr Surg 50:2094–2097
pubmed: 26388126
doi: 10.1016/j.jpedsurg.2015.08.033
Lammens CRM et al (2010) Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits. Familial Cancer 9:647–654
pubmed: 20658357
pmcid: 2980620
doi: 10.1007/s10689-010-9368-z
Leon SA, Shapiro B, Sklaroff DM, Yaros MJ (1977) Free DNA in the serum of cancer patients and the effect of therapy. Cancer Res 37:646–650
pubmed: 837366
Lodrini M et al (2017) Using droplet digital PCR to analyze MYCN and ALK copy number in plasma from patients with neuroblastoma. Oncotarget. https://doi.org/10.18632/oncotarget.19076
pubmed: 29156716
pmcid: 5689606
doi: 10.18632/oncotarget.19076
Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella-Branger D, Cavenee WK, Ohgaki H, Wiestler OD, Kleihues P, Ellison DW (2016) The 2016 World Health Organization classification of tumors of the central nervous system: a summary. Acta Neuropathol 131:803–820
pubmed: 27157931
doi: 10.1007/s00401-016-1545-1
pmcid: 27157931
Machado ASC et al (2010) Circulating cell-free and Epstein–Barr virus DNA in pediatric B-non-Hodgkin lymphomas. Leuk Lymphoma 51:1020–1027
pubmed: 20470219
doi: 10.3109/10428191003746331
Martínez-Ricarte F et al (2018) Molecular diagnosis of diffuse gliomas through sequencing of cell-free circulating tumor DNA from cerebrospinal fluid. Clin Cancer Res. https://doi.org/10.1158/1078-0432.CCR-17-3800
pubmed: 29615461
doi: 10.1158/1078-0432.CCR-17-3800
Medina Diaz I et al (2016) Performance of Streck cfDNA blood collection tubes for liquid biopsy testing. PLoS One 11:e0166354
pubmed: 27832189
pmcid: 5104415
doi: 10.1371/journal.pone.0166354
Miller AM, Shah RH, Pentsova EI, Pourmaleki M, Briggs S, Distefano N, Zheng Y, Skakodub A, Mehta SA, Campos C, Hsieh WY, Selcuklu SD, Ling L, Meng F, Jing X, Samoila A, Bale TA, Tsui DWY, Grommes C, Viale A, Souweidane MM, Tabar V, Brennan CW, Reiner AS, Rosenblum M, Panageas KS, DeAngelis L, Young RJ, Berger MF, Mellinghoff IK (2019) Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid. Nature 565:654–658
pubmed: 30675060
pmcid: 6457907
doi: 10.1038/s41586-019-0882-3
Moss J et al (2018) Comprehensive human cell-type methylation atlas reveals origins of circulating cell-free DNA in health and disease. Nat Commun 9:5068
pubmed: 30498206
pmcid: 6265251
doi: 10.1038/s41467-018-07466-6
Murthy VH, Krumholz HM, Gross CP (2004) Participation in cancer clinical trials. JAMA 291:2720
pubmed: 15187053
doi: 10.1001/jama.291.22.2720
Mussolin L, Burnelli R, Pillon M, Carraro E, Farruggia P, Todesco A, Mascarin M, Rosolen A (2013) Plasma cell-free DNA in paediatric lymphomas. J Cancer 4:323–329
pubmed: 23678368
pmcid: 3654488
doi: 10.7150/jca.6226
Nejat F, El Khashab M, Rutka JT (2008) Initial management of childhood brain tumors: neurosurgical considerations. J Child Neurol 23:1136–1148
pubmed: 18952580
pmcid: 3714852
doi: 10.1177/0883073808321768
Nishi M, Miyake H, Takeda T, Hanai J, Kikuchi Y, Takasugi N (1997) Mass screening for neuroblastoma and mortality in birth cohorts. Int J Cancer 71:552–555
pubmed: 9178807
doi: 10.1002/(SICI)1097-0215(19970516)71:4<552::AID-IJC8>3.0.CO;2-T
Pajtler KW, Witt H, Sill M, Jones DT, Hovestadt V, Kratochwil F, Wani K, Tatevossian R, Punchihewa C, Johann P, Reimand J, Warnatz HJ, Ryzhova M, Mack S, Ramaswamy V, Capper D, Schweizer L, Sieber L, Wittmann A, Huang Z, van Sluis P, Volckmann R, Koster J, Versteeg R, Fults D, Toledano H, Avigad S, Hoffman LM, Donson AM, Foreman N, Hewer E, Zitterbart K, Gilbert M, Armstrong TS, Gupta N, Allen JC, Karajannis MA, Zagzag D, Hasselblatt M, Kulozik AE, Witt O, Collins VP, von Hoff K, Rutkowski S, Pietsch T, Bader G, Yaspo ML, von Deimling A, Lichter P, Taylor MD, Gilbertson R, Ellison DW, Aldape K, Korshunov A, Kool M, Pfister SM (2015) Molecular classification of ependymal tumors across all CNS compartments, histopathological grades, and age groups. Cancer Cell 27:728–743
pubmed: 25965575
pmcid: 4712639
doi: 10.1016/j.ccell.2015.04.002
Paret C et al (2017) Personalized therapy: CNS HGNET-BCOR responsiveness to arsenic trioxide combined with radiotherapy. Oncotarget 8
Poulsen MLM, Budtz-Jørgensen E, Bisgaard ML (2010) Surveillance in von Hippel-Lindau disease (vHL). Clin Genet 77:49–59
pubmed: 19863552
doi: 10.1111/j.1399-0004.2009.01281.x
Primerano S, Burnelli R, Carraro E, Pillon M, Elia C, Farruggia P, Sala A, Vinti L, Buffardi S, Basso G, Mascarin M, Mussolin L (2016) Kinetics of circulating plasma cell-free dna in paediatric classical Hodgkin lymphoma. J Cancer 7:364–366
pubmed: 26918050
pmcid: 4749357
doi: 10.7150/jca.13593
Pugh TJ, Morozova O, Attiyeh EF, Asgharzadeh S, Wei JS, Auclair D, Carter SL, Cibulskis K, Hanna M, Kiezun A, Kim J, Lawrence MS, Lichenstein L, McKenna A, Pedamallu CS, Ramos AH, Shefler E, Sivachenko A, Sougnez C, Stewart C, Ally A, Birol I, Chiu R, Corbett RD, Hirst M, Jackman SD, Kamoh B, Khodabakshi AH, Krzywinski M, Lo A, Moore RA, Mungall KL, Qian J, Tam A, Thiessen N, Zhao Y, Cole KA, Diamond M, Diskin SJ, Mosse YP, Wood AC, Ji L, Sposto R, Badgett T, London WB, Moyer Y, Gastier-Foster JM, Smith MA, Guidry Auvil JM, Gerhard DS, Hogarty MD, Jones SJ, Lander ES, Gabriel SB, Getz G, Seeger RC, Khan J, Marra MA, Meyerson M, Maris JM (2013) The genetic landscape of high-risk neuroblastoma. Nat Genet 45:279–284
pubmed: 23334666
pmcid: 3682833
doi: 10.1038/ng.2529
Schilling FH, Spix C, Berthold F, Erttmann R, Fehse N, Hero B, Klein G, Sander J, Schwarz K, Treuner J, Zorn U, Michaelis J (2002) Neuroblastoma screening at one year of age. N Engl J Med 346:1047–1053
pubmed: 11932471
doi: 10.1056/NEJMoa012277
Seoane J, De Mattos-Arruda L, Le Rhun E, Bardelli A, Weller M (2019) Cerebrospinal fluid cell-free tumour DNA as a liquid biopsy for primary brain tumours and central nervous system metastases. Ann Oncol 30:211–218
pubmed: 30576421
doi: 10.1093/annonc/mdy544
Shen SY, Singhania R, Fehringer G, Chakravarthy A, Roehrl MHA, Chadwick D, Zuzarte PC, Borgida A, Wang TT, Li T, Kis O, Zhao Z, Spreafico A, Medina TDS, Wang Y, Roulois D, Ettayebi I, Chen Z, Chow S, Murphy T, Arruda A, O'Kane GM, Liu J, Mansour M, McPherson J, O'Brien C, Leighl N, Bedard PL, Fleshner N, Liu G, Minden MD, Gallinger S, Goldenberg A, Pugh TJ, Hoffman MM, Bratman SV, Hung RJ, de Carvalho DD (2018) Sensitive tumour detection and classification using plasma cell-free DNA methylomes. Nature 563:579–583
pubmed: 30429608
doi: 10.1038/s41586-018-0703-0
Shukla NN et al (2017) Plasma DNA-based molecular diagnosis, prognostication, and monitoring of patients with EWSR1 fusion-positive Sarcomas. JCO Precis Oncol:1–11. https://doi.org/10.1200/PO.16.00028
Siravegna G, Marsoni S, Siena S, Bardelli A (2017) Integrating liquid biopsies into the management of cancer. Nat Rev Clin Oncol. https://doi.org/10.1038/nrclinonc.2017.14
pubmed: 28252003
doi: 10.1038/nrclinonc.2017.14
Sturm D, Orr BA, Toprak UH, Hovestadt V, Jones DTW, Capper D, Sill M, Buchhalter I, Northcott PA, Leis I, Ryzhova M, Koelsche C, Pfaff E, Allen SJ, Balasubramanian G, Worst BC, Pajtler KW, Brabetz S, Johann PD, Sahm F, Reimand J, Mackay A, Carvalho DM, Remke M, Phillips JJ, Perry A, Cowdrey C, Drissi R, Fouladi M, Giangaspero F, Łastowska M, Grajkowska W, Scheurlen W, Pietsch T, Hagel C, Gojo J, Lötsch D, Berger W, Slavc I, Haberler C, Jouvet A, Holm S, Hofer S, Prinz M, Keohane C, Fried I, Mawrin C, Scheie D, Mobley BC, Schniederjan MJ, Santi M, Buccoliero AM, Dahiya S, Kramm CM, von Bueren A, von Hoff K, Rutkowski S, Herold-Mende C, Frühwald MC, Milde T, Hasselblatt M, Wesseling P, Rößler J, Schüller U, Ebinger M, Schittenhelm J, Frank S, Grobholz R, Vajtai I, Hans V, Schneppenheim R, Zitterbart K, Collins VP, Aronica E, Varlet P, Puget S, Dufour C, Grill J, Figarella-Branger D, Wolter M, Schuhmann MU, Shalaby T, Grotzer M, van Meter T, Monoranu CM, Felsberg J, Reifenberger G, Snuderl M, Forrester LA, Koster J, Versteeg R, Volckmann R, van Sluis P, Wolf S, Mikkelsen T, Gajjar A, Aldape K, Moore AS, Taylor MD, Jones C, Jabado N, Karajannis MA, Eils R, Schlesner M, Lichter P, von Deimling A, Pfister SM, Ellison DW, Korshunov A, Kool M (2016) New brain tumor entities emerge from molecular classification of CNS-PNETs. Cell 164:1060–1072
pubmed: 26919435
pmcid: 5139621
doi: 10.1016/j.cell.2016.01.015
Stutterheim J, Gerritsen A, Zappeij-Kannegieter L, Yalcin B, Dee R, van Noesel M, Berthold F, Versteeg R, Caron HN, van der Schoot C, Tytgat GA (2009) Detecting minimal residual disease in neuroblastoma: the superiority of a panel of real-time quantitative PCR markers. Clin Chem 55:1316–1326
pubmed: 19460840
doi: 10.1373/clinchem.2008.117945
Stutterheim J, Zappeij-Kannegieter L, Versteeg R, Caron HN, van der Schoot C, Tytgat GA (2011) The prognostic value of fast molecular response of marrow disease in patients aged over 1year with stage 4 neuroblastoma. Eur J Cancer 47:1193–1202
pubmed: 21429738
doi: 10.1016/j.ejca.2011.02.003
Tabori U, Hansford JR, Achatz MI, Kratz CP, Plon SE, Frebourg T, Brugières L (2017) Clinical management and tumor surveillance recommendations of inherited mismatch repair deficiency in childhood. Clin Cancer Res 23:e32–e37
pubmed: 28572265
doi: 10.1158/1078-0432.CCR-17-0574
Thierry AR, El Messaoudi S, Gahan PB, Anker P, Stroun M (2016) Origins, structures, and functions of circulating DNA in oncology. Cancer Metastasis Rev 35:347–376
pubmed: 27392603
pmcid: 5035665
doi: 10.1007/s10555-016-9629-x
Ueno-Yokohata H et al (2018) Preoperative diagnosis of clear cell sarcoma of the kidney by detection of BCOR internal tandem duplication in circulating tumor DNA. Genes Chromosom Cancer. https://doi.org/10.1002/gcc.22648
pubmed: 30126017
doi: 10.1002/gcc.22648
Van Roy N et al (2017) Shallow whole genome sequencing on circulating cell-free DNA allows reliable noninvasive copy-number profiling in neuroblastoma patients. Clin Cancer Res. https://doi.org/10.1158/1078-0432.CCR-17-0675
pubmed: 28710315
doi: 10.1158/1078-0432.CCR-17-0675
Van Wezel EM et al (2015) Whole-genome sequencing identifies patient-specific DNA minimal residual disease markers in neuroblastoma. J Mol Diagn 17:43–52
pubmed: 25445214
doi: 10.1016/j.jmoldx.2014.09.005
van Wezel EM et al (2016) Neuroblastoma messenger RNA is frequently detected in bone marrow at diagnosis of localised neuroblastoma patients. Eur J Cancer 54:149–158
pubmed: 26796600
doi: 10.1016/j.ejca.2015.11.007
Viprey VF, Corrias MV, Kagedal B, Oltra S, Swerts K, Vicha A, Ladenstein R, Burchill SA (2007) Standardisation of operating procedures for the detection of minimal disease by QRT-PCR in children with neuroblastoma: Quality assurance on behalf of SIOPEN-R-NET. Eur J Cancer 43:341–350
pubmed: 17023157
doi: 10.1016/j.ejca.2006.08.007
Viprey VF, Gregory WM, Corrias MV, Tchirkov A, Swerts K, Vicha A, Dallorso S, Brock P, Luksch R, Valteau-Couanet D, Papadakis V, Laureys G, Pearson AD, Ladenstein R, Burchill SA (2014) Neuroblastoma mRNAs predict outcome in children with stage 4 neuroblastoma: a European HR-NBL1/SIOPEN study. J Clin Oncol 32:1074–1083
pubmed: 24590653
doi: 10.1200/JCO.2013.53.3604
Wan JCM et al (2016) Liquid biopsies come of age: clinical applications of circulating tumour DNA. Nat Rev Cancer. https://doi.org/10.1038/nrc.2017.7
pubmed: 28233803
doi: 10.1038/nrc.2017.7
Weaver KD, Grossman SA, Herman JG (2006) Methylated tumor-specific DNA as a plasma biomarker in patients with Glioma. Cancer Investig 24:35–40
doi: 10.1080/07357900500449546
Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L, EU-Consortium Care for CMMRD (C4CMMRD) (2014) Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD). J Med Genet 51:355–365
pubmed: 24737826
doi: 10.1136/jmedgenet-2014-102284
Woods WG et al (2002) Screening of infants and mortality due to neuroblastoma. N Engl J Med 346:1041–1046
pubmed: 11932470
doi: 10.1056/NEJMoa012387
Worst BC, van Tilburg C, Balasubramanian GP, Fiesel P, Witt R, Freitag A, Boudalil M, Previti C, Wolf S, Schmidt S, Chotewutmontri S, Bewerunge-Hudler M, Schick M, Schlesner M, Hutter B, Taylor L, Borst T, Sutter C, Bartram CR, Milde T, Pfaff E, Kulozik AE, von Stackelberg A, Meisel R, Borkhardt A, Reinhardt D, Klusmann JH, Fleischhack G, Tippelt S, Dirksen U, Jürgens H, Kramm CM, von Bueren A, Westermann F, Fischer M, Burkhardt B, Wößmann W, Nathrath M, Bielack SS, Frühwald MC, Fulda S, Klingebiel T, Koscielniak E, Schwab M, Tremmel R, Driever PH, Schulte JH, Brors B, von Deimling A, Lichter P, Eggert A, Capper D, Pfister SM, Jones DT, Witt O (2016) Next-generation personalised medicine for high-risk paediatric cancer patients - the INFORM pilot study. Eur J Cancer 65:91–101
pubmed: 27479119
doi: 10.1016/j.ejca.2016.06.009
Yáñez Y, Hervás D, Grau E, Oltra S, Pérez G, Palanca S, Bermúdez M, Márquez C, Cañete A, Castel V (2016) TH and DCX mRNAs in peripheral blood and bone marrow predict outcome in metastatic neuroblastoma patients. J Cancer Res Clin Oncol 142:573–580
pubmed: 26498952
doi: 10.1007/s00432-015-2054-7