BRAF V600E Detection in Liquid Biopsies from Pediatric Central Nervous System Tumors

被引：40

作者：

Garcia-Romero, Noemi ^{[1
]}

Carrion-Navarro, Josefa ^{[1
]}

Areal-Hidalgo, Pilar ^{[1
,2
]}

Ortiz de Mendivil, Ana ^{[1
]}

Asensi-Puig, Adria ^{[3
]}

Madurga, Rodrigo ^{[1
]}

Nunez-Torres, Rocio ^{[4
]}

Gonzalez-Neira, Anna ^{[4
]}

Belda-Iniesta, Cristobal ^{[1
]}

Gonzalez-Rumayor, Victor ^{[3
]}

Lopez-Ibor, Blanca ^{[1
,2
]}

Ayuso-Sacido, Angel ^{[1
,5
]}

机构：

[1] HM Hosp, Fdn Invest HM Hosp, Madrid 28015, Spain

[2] Madrid Monteprincipe Hosp, Pediat Hematol & Oncol Unit, Madrid 28660, Spain

[3] Atrys Hlth, Barcelona 08025, Spain

[4] Spanish Natl Canc Res Ctr CNIO, Madrid 28029, Spain

[5] Univ San Pablo CEU, Fac Med IMMA, Madrid 28668, Spain

来源：

CANCERS | 2020年 / 12卷 / 01期

关键词：

pediatric brain tumors; liquid biopsy; BRAF; dabrafenib; DNA; MUTATIONS; CHILDREN;

D O I：

10.3390/cancers12010066

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Pediatric Central Nervous System (CNS) tumors are the most fatal cancer diseases in childhood. Due to their localization and infiltrative nature, some tumor resections or biopsies are not feasible. In those cases, the use of minimally invasive methods as diagnostic, molecular marker detection, prognostic or monitoring therapies are emerging. The analysis of liquid biopsies which contain genetic information from the tumor has been much more widely explored in adults than in children. We compare the detection of BRAF V600E targetable mutation by digital-PCR from cell-free-DNA and EV-derived DNA (ctDNA) in serum, plasma and cerebrospinal fluid (CSF) isolated from a cohort of 29 CNS pediatric patients. Here we demonstrate that ctDNA isolated from serum and plasma could be successfully analyzed to obtain tumor genetic information which could be used to guide critical treatment decisions.

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页数：10

相关论文

共 38 条

[1] Assessment of circulating tumor DNA in pediatric solid tumors: The promise of liquid biopsies [J].

Abbou, Samuel D. ;

Shulman, David S. ;

DuBois, Steven G. ;

Crompton, Brian D. .

PEDIATRIC BLOOD & CANCER, 2019, 66 (05)

[2]

Andersson R, 2019, NO GO WORLD: HOW FEAR IS REDRAWING OUR MAPS AND INFECTING OUR POLITICS, P1

[3] The Prognostic Value of BRAF Mutation in Colorectal Cancer and Melanoma: A Systematic Review and Meta-Analysis [J].

Ardekani, Gholamreza Safaee ;

Jafarnejad, Seyed Mehdi ;

Tan, Larry ;

Saeedi, Ardavan ;

Li, Gang .

PLOS ONE, 2012, 7 (10)

[4] Frequency of BRAF V600E mutations in 969 central nervous system neoplasms [J].

Behling, Felix ;

Barrantes-Freer, Alonso ;

Skardelly, Marco ;

Nieser, Maike ;

Christians, Arne ;

Stockhammer, Florian ;

Rohde, Veit ;

Tatagiba, Marcos ;

Hartmann, Christian ;

Stadelmann, Christine ;

Schittenhelm, Jens .

DIAGNOSTIC PATHOLOGY, 2016, 11

[5] Liquid biopsy in central nervous system metastases: a RANO review and proposals for clinical applications [J].

Boire, Adrienne ;

Brandsma, Dieta ;

Brastianos, Priscilla K. ;

Le Rhun, Emilie ;

Ahluwalia, Manmeet ;

Junck, Larry ;

Glantz, Michael ;

Groves, Morris D. ;

Lee, Eudocia Q. ;

Lin, Nancy ;

Raizer, Jeffrey ;

Ruda, Roberta ;

Weller, Michael ;

van den Bent, Martin J. ;

Vogelbaum, Michael A. ;

Chang, Susan ;

Wen, Patrick Y. ;

Soffietti, Riccardo .

NEURO-ONCOLOGY, 2019, 21 (05) :571-583

[6] Targeting oncogenic BRAF and aberrant MAPK activation in the treatment of cutaneous melanoma [J].

Cadino, Matte S. ;

Long, Georgina V. ;

Kefford, Richard F. ;

Rizos, Helen .

CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY, 2015, 96 (03) :385-398

[7] Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma [J].

De Mattos-Arruda, Leticia ;

Mayor, Regina ;

Ng, Charlotte K. Y. ;

Weigelt, Britta ;

Martinez-Ricarte, Francisco ;

Torrejon, Davis ;

Oliveira, Mafalda ;

Arias, Alexandra ;

Raventos, Carolina ;

Tang, Jiabin ;

Guerini-Rocco, Elena ;

Martinez-Saez, Elena ;

Lois, Sergio ;

Marin, Oscar ;

de la Cruz, Xavier ;

Piscuoglio, Salvatore ;

Towers, Russel ;

Vivancos, Ana ;

Peg, Vicente ;

Ramon y Cajal, Santiago ;

Carles, Joan ;

Rodon, Jordi ;

Gonzalez-Cao, Maria ;

Tabernero, Josep ;

Felip, Enriqueta ;

Sahuquillo, Joan ;

Berger, Michael F. ;

Cortes, Javier ;

Reis-Filho, Jorge S. ;

Seoane, Joan .

NATURE COMMUNICATIONS, 2015, 6

[8] Response of recurrent BRAFV600E mutated ganglioglioma to Vemurafenib as single agent [J].

del Bufalo, Francesca ;

Carai, Andrea ;

Fig-Talamanca, Lorenzo ;

Pettorini, Benedetta ;

Mallucci, Conor ;

Giangaspero, Felice ;

Antonelli, Manila ;

Badiali, Manuela ;

Moi, Loredana ;

Bianco, Giuseppe ;

Cacchione, Antonella ;

Locatelli, Franco ;

Ferretti, Elisabetta ;

Mastronuzzi, Angela .

JOURNAL OF TRANSLATIONAL MEDICINE, 2014, 12

[9] Recent Progress in the Pathology and Genetics of Pilocytic and Pilomyxoid Astrocytomas [J].

Ding, Cristine ;

Tihan, Tarik .

BALKAN MEDICAL JOURNAL, 2019, 36 (01) :3-+

[10] First-line gefitinib in Caucasian EGFR mutation-positive NSCLC patients: a phase-IV, open-label, single-arm study [J].

Douillard, J-Y ;

Ostoros, G. ;

Cobo, M. ;

Ciuleanu, T. ;

McCormack, R. ;

Webster, A. ;

Milenkova, T. .

BRITISH JOURNAL OF CANCER, 2014, 110 (01) :55-62

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