SEARCH · PubMed Health

Results for “Pediatric Precision Oncology”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources

PubMed2026

Impact of precision oncology research in pediatric poor prognosis cancer: patient, parent and healthcare provider perspectives.

BACKGROUND: Comprehensive genomic analyses are increasingly accessible to children, adolescents and young adults (AYAs) with poor prognosis cancers. Challenges and successes of pediatric precision oncology studies from the perspectives of AYA patients, parents and healthcare providers (HCPs) are poorly described. METHODS: Between March 2021 and May 2023, we interviewed AYA patients (12-21 years), parents and HCPs who participated in pediatric precision oncology studies for poor prognosis cancers in British Columbia. Interviews followed an investigator-developed semi-structured topic guide. Data were coded inductively and deductively by one qualitative researcher and one trainee, supported by two additional team members. Analytic themes were established using qualitative thematic analysis. RESULTS: We interviewed 9 AYAs, 10 parents, and 17 HCPs. We identified five analytic themes: importance of clear communication of study information between patients, families and multidisciplinary HCPs; a need to support disclosure, understanding and clinical integration of research results; barriers to accessing innovative therapy and mitigation strategies; approaches to managing parent, patient and HCP hopes and expectations; personal challenges and stressors related to participation. CONCLUSIONS: We highlight unmet needs and offer practical considerations for integrating precision oncology into clinical practice. Considerations include educating and supporting oncologists through genomics results disclosure, increasing engagement with multidisciplinary HCPs, streamlining access to study information and results, coordinating efforts to clinically validate results and access therapies, and establishing real-world outcome data to inform clinical decision-making. Implementation of these strategies will optimize care for patients and families who are navigating poor prognosis cancers.

Humans↗

PubMed2026

Precision medicine and parental experience: a longitudinal study of psychosocial responses to germline genomic results in pediatric oncology.

INTRODUCTION: Precision medicine has become central to pediatric oncology, with germline genomic sequencing commonly integrated into routine care. Families must interpret complex genomic findings during emotionally vulnerable periods, generating mixed reactions ranging from clarity and relief to anxiety and uncertainty. Palliative care clinicians, genetic counselors, psychologists, social workers, and oncology providers may each contribute to supporting families as they interpret and integrate these findings over the course of a child's cancer care and beyond. Little is known about the trajectory of parental emotional and cognitive responses after receiving germline sequencing results, limiting clinicians' ability to anticipate support needs across the cancer care continuum. This study quantitatively examines parental emotional and cognitive responses across time following disclosure of germline sequencing results in a pediatric oncology setting. METHODS: Parents (n = 218) self-reported sequencing-related distress, positive feelings, intrusive thoughts, certainty, and self-efficacy using validated measures at two longitudinal follow-up points after disclosure of their child's germline test results. Outcomes were compared across germline test result types (pathogenic/likely pathogenic [P/LP], n = 31 [14%]; variants of uncertain significance [VUS], n = 86 [39%]; and negative, n = 101[46%]). RESULTS: Parents of children receiving P/LP or P/LP+VUS results reported significantly higher distress yet greater positive feelings than parents receiving negative results. Notably, certainty and self-efficacy increased from Timepoint 1 (median 254 days following return of results) to Timepoint 2 (median 537 days). Intrusive thoughts did not significantly differ by genetic result type or change over time; however, the factors contributing to intrusive thoughts could not be determined from the current study. DISCUSSION: These findings provide insight into how families adapt to germline genomic information following a pediatric cancer diagnosis. As precision medicine becomes increasingly embedded in pediatric oncology, structured follow-up and communication that address families' evolving informational and psychosocial needs are essential to ensure care that is scientifically precise, emotionally attuned, and centered on the family experience.

family-centered care↗

PubMed2026

Epigenetic Liquid Biopsy Enables Universal Mutation-Agnostic Molecular Surveillance for High-Risk Neuroblastoma.

PURPOSE: Liquid biopsy monitoring in pediatric solid tumors is limited by low mutational burden and lack of trackable genomic drivers. We sought to develop a mutation-agnostic, methylation-based liquid biopsy framework enabling universal molecular surveillance of high-risk neuroblastoma. EXPERIMENTAL DESIGN: Using whole-genome Oxford Nanopore Technologies sequencing of high-risk neuroblastoma tumors, we compared tumor-derived methylation profiles with a comprehensive atlas of normal human cell types and identified 72 neuroblastoma-specific differentially methylated regions (meNBL) that were reliably detectable in cell-free DNA (cfDNA). Marker robustness and specificity were validated using independent neuroblastoma methylation datasets and assessed against methylation profiles from other cancer types. We established neuroblastoma as a distinct methylation entity within the reference atlas by integrating a panel of 25 meNBLs, enabling quantitative estimation of tumor-derived cfDNA. Assay performance was evaluated across diagnostic, remission, relapse, and healthy control samples and compared with mutation-based and copy number-based approaches. RESULTS: Neuroblastoma-derived cfDNA was consistently detected at diagnosis and relapse but was absent in healthy controls and during confirmed remission. Methylation-based deconvolution demonstrated high specificity, with no detectable background signal in controls, and improved performance relative to copy number-based tumor fraction estimation. Longitudinal profiling enabled early molecular detection of relapse and reliable disease monitoring. CONCLUSIONS: We establish a robust, mutation-independent methylation-based liquid biopsy strategy for neuroblastoma that enables accurate, quantitative disease monitoring across all high-risk patients, including those lacking trackable genomic alterations. This approach supports the clinical translation of methylation-based cfDNA deconvolution as a broadly applicable platform for pediatric precision oncology.

Humans↗

PubMed2026

Establishing a Multicenter Personalized Medicine Program in Childhood, Adolescent, and Young Adult Cancer in Spain: The SEHOP-PENCIL Project.

Pediatric cancer care in Spain lacked a national personalized medicine program. The SEHOP-PENCIL initiative, established by the SEHOP, was designed to address this gap. A national survey identified the genomic sequencing needs of hospitals treating pediatric patients with cancer. Results showed improved access to targeted next-generation sequencing panels but revealed persistent variability in implementation, limited availability of advanced sequencing (whole-exome sequencing, whole-genome sequencing, RNA sequencing, and DNA methylation profiling), and gaps in cancer predisposition clinics and molecular tumor boards (MTBs). SEHOP-PENCIL is organized as a network of 10 specialized genomic centers serving 45 hospitals through a centralized inclusion system. The program standardizes patient eligibility, genomic workflows, and result interpretation, supported by a national MTB. This framework enables informed clinical decision making, ensures access to molecular diagnosis and innovative therapies, and supports systematic data collection to advance pediatric cancer research and personalized care. SEHOP-PENCIL represents a pioneering national model for integrating precision oncology into pediatric cancer care in Spain. By fostering collaboration, standardizing genomic practices, and promoting equitable access, it aims to reduce disparities and improve outcomes, offering a scalable example for other decentralized health care systems.

Humans↗

PubMed2025

Integration of ALK gene mutations and targeted therapies in pediatric high-risk neuroblastoma: advancements in precision oncology.

INTRODUCTION: Neuroblastoma (NB) is the most common extracranial solid tumor in children. High-risk neuroblastoma remains a therapeutic challenge, with a 5-year survival rate of 60%. The anaplastic lymphoma kinase (ALK) oncogene plays a critical role in the pathogenesis of neuroblastoma, with mutations frequently observed in high-risk cases. In this review we explored the genomic landscape of high-risk neuroblastoma, focusing on ALK mutations and their role in disease progression. We have also discussed the efficacy of ALK-targeted therapies and potential combination strategies to overcome resistance. METHODS: A comprehensive literature search was conducted to collect peer-reviewed publications related to neuroblastoma's biology, classification, and treatment. Articles published between 1980 and 2025 were identified using databases such as PubMed, Scopus, Web of Science, and ClinicalTrials.gov. RESULTS: Neuroblastoma tumorigenesis implicates ALK mutations, particularly at ALK p.R1275Q, ALK p.F1174L, and ALK p.F1245C, with an enrichment in stage 4 tumors and younger patients. Several ALK inhibitors, like crizotinib, ceritinib, lorlatinib, repotrectinib, and alectinib, have shown different levels of success, but resistance to these treatments is still a big challenge. New treatment methods that combine farnesyltransferase inhibitors (FTIs) with ALK tyrosine kinase inhibitors (TKIs) are showing potential in improving how well the treatment works and in stopping the cancer from coming back. CONCLUSION: Precision oncology offers a novel and potentially more effective approach for treating high-risk neuroblastoma. While ALK inhibitors have shown promise, resistance mechanisms necessitate the development of combination therapies and next-generation inhibitors. Future research should focus on optimizing targeted treatment strategies to improve survival outcomes in pediatric patients with ALK-positive neuroblastoma.

ALK inhibitors↗

PubMed1984

Use of computed tomography in pediatric oncology.

Computed tomography (CT) has dramatically changed the imaging of pediatric oncologic disease. CT precisely displays and characterizes cross-sectional anatomic pathology. This provides important information for diagnosing and staging tumors in infants and children. The principles, techniques, and indications for computed tomography in the evaluation of pediatric extracranial tumors are reviewed in this article. Selected applications of computed tomography for pediatric tumors of the mediastinum, chest wall, lung parenchyma, abdomen, pelvis, and extremities are discussed and illustrated.

Abdominal Neoplasms↗

PubMed1995

Screening for Wilms tumor in high-risk individuals.

Recognition of the association between a variety of genetic syndromes and Wilms tumor has influenced physicians to develop tumor surveillance protocols based on empiric risk estimates. In recent years, clinical evaluation of high-risk individuals has been greatly refined and sensible screening protocols have been proposed. A continued effort to clinically characterize the Wilms tumor syndromes continues to be important, and a patient registry is currently being generated by one of the authors (CC). This registry will prospectively assess the occurrence of Wilms tumor in patients with high-risk phenotypes. All interested clinicians are encouraged to enroll their patients. As molecular genetic technologies refine our knowledge of factors leading to Wilms tumor, improved mechanisms of surveillance in high-risk individuals will be developed. Recent characterization of molecular mechanisms responsible for cases of BWS, isolated hemihypertrophy, DDS, familial Wilms tumor, and aniridia has already influenced the clinical management of high-risk patients and has become an important adjunct to clinical assessment in these patients. The involvement of clinical genetics in the coordination of clinical assessment, genetic testing, and tumor surveillance will provide better patient care and will promote the development of a multidisciplinary approach to Wilms tumor risk assessment. This collaboration between clinical genetics, molecular biology, oncology, and pediatrics should allow for a more precise understanding of tumor risks and will accelerate the understanding of factors involved in the genesis and progression of Wilms tumor.

Humans↗

PubMed2026

Proteogenomic analysis of pediatric and AYA high-grade glioma reveals age-dependent biology, female-male differences, and kinase targets.

High-grade gliomas (HGGs) in children and adolescents and young adults (AYA) exhibit distinct biology across the neurodevelopmental spectrum. To dissect tumor-intrinsic molecular characteristics independent of developmental variation, we perform comprehensive proteogenomic analyses of tumors from 112 HGG patients aged 0-40 years. Our multi-omics analysis identifies two AYA subgroups-adolescents (aged 15-26 years) and young adults (aged 26-40 years)-with distinct molecular profiles and survival outcomes. Tumor-normal comparisons and survival modeling highlight roles of oxidative phosphorylation and neuronal system biology in glioma progression. Causal network analysis and cell line studies provide a rationale for personalized therapies targeting candidate kinases, such as CDK8. Survival modeling, clustering, and immune-landscape analyses identify proteins, post-translational modifications, and immune signatures linked to outcomes and reveal clinically relevant differences between male and female patients.

adolescent and young adult glioma↗

PubMed2005

Evidence for an age cutoff greater than 365 days for neuroblastoma risk group stratification in the Children's Oncology Group.

PURPOSE: In the Children's Oncology Group, risk group assignment for neuroblastoma is critical for therapeutic decisions, and patients are stratified by International Neuroblastoma Staging System stage, MYCN status, ploidy, Shimada histopathology, and diagnosis age. Age less than 365 days has been associated with favorable outcome, but recent studies suggest that older age cutoff may improve prognostic precision. METHODS: To identify the optimal age cutoff, we retrospectively analyzed data from the Pediatric Oncology Group biology study 9047 and Children's Cancer Group studies 321p1-p4, 3881, 3891, and B973 on 3,666 patients (1986 to 2001) with documented ages and follow-up data. Twenty-seven separate analyses, one for each different age cutoff (adjusting for MYCN and stage), tested age influence on outcome. The cutoff that maximized outcome difference between younger and older patients was selected. RESULTS: Thirty-seven percent of patients were younger than 365 days, and 64% were > or = 365 days old (4-year event-free survival [EFS] rate +/- SE: 83% +/- 1% [n = 1,339] and 45% +/- 1% [n = 2,327], respectively; P < .0001). Graphical analyses revealed the continuous nature of the prognostic contribution of age to outcome. The optimal 460-day cutoff we selected maximized the outcome difference between younger and older patients. Forty-three percent were younger than 460 days, and 57% were > or = 460 days old (4-year EFS rate +/- SE: 82% +/- 1% [n = 1,589] and 42% +/- 1% [n = 2,077], respectively; P < .0001). Using a 460-day cutoff (assuming stage 4, MYCN-amplified patients remain high-risk), 5% of patients (365 to 460 days: 4-year EFS 92% +/- 3%; n = 135) fell into a lower risk group. CONCLUSION: The prognostic contribution of age to outcome is continuous in nature. Within clinically relevant risk stratification, statistical support exists for an age cutoff of 460 days.

Age Factors↗

PubMed1986

Topography of childhood tumors: pediatric coding system.

The importance of a uniform coding system for cancer research, tumor registry, and exchange of information is recognized. However, tumors arising in children differ from those in adults, resulting in lack of precision when one coding system is used for both. Because the topographic code of the International Classification of Disease for Oncology for adult tumors does not lend itself well to pediatric tumors, the International Society of Paediatric Oncology (SIOP) developed a four-digit topographic coding system particularly adapted to childhood tumors. The four digits correspond to anatomic site, general and specific localization, and tissue of origin. An SIOP pilot study demonstrated the usefulness of this code.

Child↗

PubMed1998

Evaluation of quality of life of childhood cancer survivors: a methodological conundrum.

QOL assessment in pediatric oncology is seriously understudied, especially compared with the adult population. The limited progress is due to the methodological complexity of the task, which should not be viewed as insurmountable. Given a precise study question, the methodological issues can be clarified simply, piece by piece. Researchers must consider very carefully the specific characteristics that define a study population in order to choose an instrument that is domain-appropriate and valid for the assessment paradigm. The first priority should be that a researcher must identify the means of accessing the information of interest. In the pediatric population, information about children's status may be elicited from parents, medical personnel, teachers, or the children themselves. Clearly, the type of instrument to be used for assessment is dependent on the choice of reporter. Researchers must also account for developmental age and disease; in assessing generic and disease-specific functioning, the "functional scale" against which an individual is compared must implicitly reflect the types of activities and/or levels of functioning that are realistic norms for the patient. Equally important is the analysis of independent domains in order to characterize the dynamics/divergence of clinical status and functional status. What are the merits of conducting QOL research for the pediatric cancer-survivor population? The policy implications are profound and pervasive both for the individual survivors (regarding treatment, care, and his/her ultimate ability to reintegrate into society) and for society (regarding resource allocation, cost planning, and productivity). Commensurate with the rapid advancement of oncologic therapy, there is now an expanding cohort of pediatric cancer survivors. Current estimates suggest that, by the turn of the century, 200,000 children will be in this category. The long-term survivorship of this cohort is still poorly defined. However, as the survivors mature, it is likely that their needs will evolve as well-whether for treatment of secondary malignancies, long-term morbidities, and fertility issues or for neuropsychological dysfunction, emotional counseling, or occupational issues. Children, as survivors, are unique, in that their future (the context within which long-term outcome is defined) spans decades. Based on a median age at diagnosis of 6 years, survivors can expect to live an additional 66 years. From a cost or policy perspective, children represent enormous future potential. The implications of children's long-term outcomes must be considered regarding the change in future potential secondary to survivorship. Pediatric QOL research plays a role both inside and outside the health care system. Clearly, in the provision of health care, QOL data may be used to improve or modify patient care by supplementing information about the clinical status of individual patients. Information about an individual's general functioning, particularly as it diverges from disease-specific functioning, complements clinical data to facilitate comprehensive care. Information about the long-term outcomes of pediatric cancer, as a whole, will influence the policies of health care institutions and the allocation of health care resources. By expanding the scope of survivorship (or cure) to include long-term clinical and general "costs" the "cost of cure" is shifted: this shift will ultimately impact estimations of cost effectiveness, with ramifications for the evaluation of hospital-wide protocols, utilization priorities, and cost policies. Outside of the hospital, the implications of QOL research are equally ubiquitous. Pediatric survivors will live an estimated 7 decades after "cure," during which time they will exist almost entirely outside the realm of health care; yet, their condition as a survivor, with or without the long-term clinical toxicities secondary to treatment, will continue to affect some or all of thei

Adolescent↗

PubMed2002

Septicemia due to Acinetobacter junii.

Acinetobacter spp. are considered to be emerging nosocomial pathogens. Acinetobacter junii is a rare cause of disease in humans and was associated mainly with bacteremia in preterm infants and pediatric oncologic patients. In this report we describe a case of catheter-related infection by A. junii in an adult oncologic patient. Application of molecular methods for precise species identification of Acinetobacter spp. will help to further clarify their role as human pathogens.

Acinetobacter↗

PubMed2024

Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents-To Test or not to Test?

With the increasing use of comprehensive germline genetic testing of children and adolescents with cancer, it has become evident that pathogenic variants (PV) in adult-onset cancer predisposition genes (aoCPG) underlying adult-onset cancer predisposition syndromes, such as Lynch syndrome or hereditary breast and ovarian cancer, are enriched and reported in 1% to 2% of children and adolescents with cancer. However, the causal relationship between PVs in aoCPGs and childhood cancer is still under investigation. The best-studied examples include heterozygous PVs in mismatch repair genes associated with Lynch syndrome in children with mismatch repair deficient high-grade glioma, heterozygous PVs in BARD1 in childhood neuroblastoma, and heterozygous PVs in BRCA2 in children with rhabdomyosarcoma. The low penetrance for pediatric cancers is considered to result from a combination of the low baseline risk of cancer in childhood and the report of only a modest relative risk of disease in childhood. Therefore, we do not advise that healthy children empirically be tested for PVs in an aoCPG before adulthood outside a research study. However, germline panel testing is increasingly being performed in children and adolescents with cancer, and exome and genome sequencing may be offered more commonly in this population in the future. The precise pediatric cancer risks and spectra associated with PVs in aoCPGs, underlying cellular mechanisms and somatic mutational signatures, as well as treatment response, second neoplasm risks, and psycho-oncological aspects require further research.

Adolescent↗

PubMed2006

[Improving overall patient care during imaging studies: the radiologist's CREDO and PERLES].

The protocols specifying the basic rules of the doctor-patient relationship that have been proposed in the literature are primarily intended for referring physicians, in particular oncologists. With regard to the improving radiologists' communication skills, a simple tool, RADPED, was developed to help residents in pediatric radiology to memorize the main points of the patient-radiologist interaction. We suggest a protocol, CREDO, more precisely appropriated to the everyday practice of medical imaging, in particular in oncology. This protocol relates not only to the radiologist-patient relationship, but also to the rules common to the department's entire team. The aims are to establish a partnership with the patient (for this purpose, we suggest using the PERLES model: partnership, excuses (apology), respect, legitimization, empathy, support), carrying out the examination under optimal conditions, listening to what the patient has to say, giving information and, above all, organizing the imaging department around the patient.

Clinical Protocols↗

PubMed1998

A study in contrasts: eligibility criteria in a twenty-year sample of NSABP and POG clinical trials. National Surgical Adjuvant Breast and Bowel Program. Pediatric Oncology Group.

We studied changes in eligibility criteria--the largest impediment to patient accrual--in two samples of clinical trials. Trials from the NSABP (National Surgical Adjuvant Breast and Bowel Program) and POG (Pediatric Oncology Group) were analyzed. After eliminating duplications, the criteria in each protocol were enumerated and classified according to a novel schema. NSABP trials contained significantly more criteria than POG trials, and added precision criteria (making study populations homogeneous) at a faster rate than POG studies. The difference between NSABP studies (explanatory trials) and POG studies (pragmatic trials) suggest that large numbers of eligibility criteria are not necessary for quality studies. We recommend that: (1) the inclusion/exclusion criteria distinction be abandoned; (2) eligibility criteria be explicitly justified; (3) the need for each criterion be assessed when new trials are planned; (4) criteria in phase III trials restricting patient accrual be minimized; and (5) further research be done to assess the impact of criteria on generalizability.

Breast Neoplasms↗

PubMed2005

A liquid chromatography-tandem mass spectrometry method for the simultaneous quantification of actinomycin-D and vincristine in children with cancer.

Actinomycin-D (Act-D) and vincristine (VCR) are cytotoxic agents commonly used in the treatment of pediatric cancers. To date, there are few published methods on quantifying Act-D or VCR and no published methods on quantifying the two drugs together. We present a methodology for the simultaneous quantification of Act-D and VCR in human plasma using liquid chromatography-tandem mass spectrometry (LC/MS/MS) detection. Following solid phase extraction, plasma samples were separated and analyzed using electrospray ionization (ESI). The lower limit of quantitation (LLOQ) for both Act-D and VCR was 0.5 ng/ml. The analytical accuracy for detection of both Act-D and VCR was > or = 90%. The analytical precision, as estimated by the coefficient of variation was < or = 6% for Act-D and < or = 11% for VCR. Given the prevalence of the use of the two drugs as combination therapy in a variety of pediatric oncological indications, the small sample volume requirements and the assay sensitivity, this methodology is expected to support several ongoing and future pediatric trials.

Antibiotics, Antineoplastic↗

PubMed1999

[Malignant non-seminomatous germinal tumors of the ovary. Experience of the French Society of Pediatric Oncology. 64 cases].

Ovary seminomatous malignant germ cell tumours are a particular histopathologica entity. The presence of yolk salk tumor or choriocarcinoma is respectively correlated with elevation of alpha FP or beta hCG. This markers elevation permits to assess diagnosis, appreciate response to treatment, and detect relapses. The study of 64 patients registered in two successive S.F.O.P. protocols (TGM 85-TGM 90) precise indications of surgery, platin-based chemotherapy and results. Malignant non seminomatous germ cell tumors are separated in not secreting pure immature teratoma and secreting malignant germ cell tumours. Surgery is essential for treatment of not secreting pure immature teratoma. Secreting germ cell tumors are very chemosensitive and surgery must be as conservative as possible in all cases even metastatic tumour or relapse. If markers are normalized second-look surgery of secreting malignant germ cell tumours is only necessary in case of evident residual tumour. However in case of initial chemotherapy, resection of a pathological ovary is always performed at the end of treatment. These tumours have a good prognosis: 5-years overall survival and disease-free survival are 85%.

Adolescent↗

PubMed2003

Biopsy, needle localization, and radiofrequency ablation for pediatric patients.

Pediatric interventions for oncology patients include aspiration or percutaneous biopsy for malignancy diagnosis or recurrence, and percutaneous biopsy for the complications of tumor treatment. Tumor localization techniques have been used to resect small lesions with minimal invasion. However improved guidance techniques have allowed for more precise biopsy and the use of thermal ablation instead of excision for local tumor control. I will discuss these diagnostic and therapeutic techniques as they apply to children.

Aspergillosis↗