Somatic Copy Number Alteration in Circulating Tumor DNA for Monitoring of Pediatric Patients with Cancer

Ruas, Juliana S.; Silva, Felipe Luz Torres; Euzébio, Mayara Ferreira; Biazon, Tássia Oliveira; Daiggi, Camila Maia Martin; Nava, Daniel; Franco, Mayra Troiani; Cardinalli, Izilda Aparecida; Cassone, Alejandro Enzo; Pereira, Luiz Henrique Ferraz; Seidinger, Ana Luíza; Maschietto, Mariana; Jotta, Patricia Yoshioka

doi:10.3390/biomedicines11041082

Cited by 6 publications

(2 citation statements)

References 52 publications

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“…Less ctDNA is released into the bloodstream at NB recurrence than at diagnosis. Alterations in ctDNA are prevalent in children with high-risk NB and are valuable for follow-up during treatment ( 120 - 122 ).…”

Section: Liquid Biopsymentioning

confidence: 99%

Narrative review: precision medicine applications in neuroblastoma—current status and future prospects

Zhou,

Du,

Cai

2024

Transl Pediatr

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Background and Objective Neuroblastoma (NB) is a common malignant tumor in children, and its treatment remains challenging. Precision medicine, as an individualized treatment strategy, aims to improve efficacy and reduce toxicity by combining unique patient- and tumor-related factors, bringing new hope for NB treatment. In this article, we review the evidence related to precision medicine in NB, with a focus on potential clinically actionable targets and a series of targeted drugs associated with NB. Methods We conducted an extensive search in PubMed, EMBASE, and Web of Science using key terms and database-specific strategies, filtered for time and language, to ensure a comprehensive collection of literature related to precision medicine in NB. The main search terms consisted of “neuroblastoma”, “precision medicine”, “pediatrics”, and “targeting”. The articles included in this study encompass those published from 1985 to the present, without restrictions on the type of articles. Key Content and Findings ALK inhibitors and MYCN inhibitors have been developed to interfere with tumor cell growth and dissemination, thereby improving treatment outcomes. Additionally, systematic testing to identify relevant driver mutations is crucial and can be used for diagnosis and prognostic assessment through the detection of many associated molecular markers. Furthermore, liquid biopsy, a non-invasive tumor detection method, can complement tissue biopsy and play a role in NB by analyzing circulating tumor DNA and circulating tumor cells to provide genetic information and molecular characteristics of the tumor. Recently, trials conducted by many pediatric oncology groups have shown the urgent need for new approaches to cure relapsed and refractory patients. Conclusions The purpose of this review is to summarize the latest advances in clinical treatment of NB, to better understand and focus on the development of promising treatment approaches, and to expedite the transition to the precision medicine clinical relevance in NB patients.

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Section: Liquid Biopsymentioning

confidence: 99%

Narrative review: precision medicine applications in neuroblastoma—current status and future prospects

Zhou,

Du,

Cai

2024

Transl Pediatr

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“…Some of these samples were used previously. DNA and circulating free DNA (cfDNA) extraction methods as well as quality control techniques have been described elsewhere [22].…”

Section: Patient Eligibility and Sample Collectionmentioning

confidence: 99%

11p15 Epimutations in Pediatric Embryonic Tumors: Insights from a Methylome Analysis

Silva,

Ruas,

Euzébio

et al. 2023

Cancers

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Embryonic tumors share few recurrent mutations, suggesting that other mechanisms, such as aberrant DNA methylation, play a prominent role in their development. The loss of imprinting (LOI) at the chromosome region 11p15 is the germline alteration behind Beckwith–Wiedemann syndrome that results in an increased risk of developing several embryonic tumors. This study analyzed the methylome, using EPIC Beadchip arrays from 99 sporadic embryonic tumors. Among these tumors, 46.5% and 14.6% presented alterations at imprinted control regions (ICRs) 1 and 2, respectively. Based on the methylation levels of ICR1 and ICR2, four clusters formed with distinct methylation patterns, mostly for medulloblastomas (ICR1 loss of methylation (LOM)), Wilms tumors, and hepatoblastomas (ICR1 gain of methylation (GOM), with or without ICR2 LOM). To validate the results, the methylation status of 29 cases was assessed with MS-MLPA, and a high level of agreement was found between both methodologies: 93% for ICR1 and 79% for ICR2. The MS-MLPA results indicate that 15 (51.7%) had ICR1 GOM and 11 (37.9%) had ICR2 LOM. To further validate our findings, the ICR1 methylation status was characterized via digital PCR (dPCR) in cell-free DNA (cfDNA) extracted from peripheral blood. At diagnosis, we detected alterations in the methylation levels of ICR1 in 62% of the cases, with an agreement of 76% between the tumor tissue (MS-MLPA) and cfDNA methods. Among the disagreements, the dPCR was able to detect ICR1 methylation level changes presented at heterogeneous levels in the tumor tissue, which were detected only in the methylome analysis. This study highlights the prevalence of 11p15 methylation status in sporadic embryonic tumors, with differences relating to methylation levels (gain or loss), location (ICR1 or ICR2), and tumor types (medulloblastomas, Wilms tumors, and hepatoblastomas).

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Updates on liquid biopsies in neuroblastoma for treatment response, relapse and recurrence assessment

Jahangiri

2024

Cancer Genetics

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Somatic Copy Number Alteration in Circulating Tumor DNA for Monitoring of Pediatric Patients with Cancer

Cited by 6 publications

References 52 publications

Narrative review: precision medicine applications in neuroblastoma—current status and future prospects

Narrative review: precision medicine applications in neuroblastoma—current status and future prospects

11p15 Epimutations in Pediatric Embryonic Tumors: Insights from a Methylome Analysis

Updates on liquid biopsies in neuroblastoma for treatment response, relapse and recurrence assessment

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