Genetic predisposition in pediatric oncology

Pruteanu, Doina Paula; Olteanu, Diana; Cosnarovici, Rodica; Mihut, Emilia; Nagy, Viorica

doi:10.15386/mpr-1576

Cited by 3 publications

(2 citation statements)

References 129 publications

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“…Optic gliomas and malignant peripheral nerve sheath tumors (MPNSTs) are the most frequently observed types of cancer in children with NF1 [ 116 , 120 ], with a high incidence of acute myeloid leukemia (AML) [ 121 ]. Moreover, the diagnosis or identification of individuals with a genetic predisposition to develop malignant tumors can result in a change of treatment plan, specific follow-up of adverse treatment effects, and early detection of second neoplasia [ 122 ]. Early detection of pediatric cancer predisposition has the potential to improve outcomes and reduce mortality rates through targeted surveillance and personalized treatment approaches ( Table 1 ).…”

Section: Introductionmentioning

confidence: 99%

Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach

Linga,

Mohammed,

Farrell

et al. 2024

Cancers

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As next-generation sequencing (NGS) has become more widely used, germline and rare genetic variations responsible for inherited illnesses, including cancer predisposition syndromes (CPSs) that account for up to 10% of childhood malignancies, have been found. The CPSs are a group of germline genetic disorders that have been identified as risk factors for pediatric cancer development. Excluding a few “classic” CPSs, there is no agreement regarding when and how to conduct germline genetic diagnostic studies in children with cancer due to the constant evolution of knowledge in NGS technologies. Various clinical screening tools have been suggested to aid in the identification of individuals who are at greater risk, using diverse strategies and with varied outcomes. We present here an overview of the primary clinical and molecular characteristics of various CPSs and summarize the existing clinical genomics data on the prevalence of CPSs in pediatric cancer patients. Additionally, we discuss several ethical issues, challenges, limitations, cost-effectiveness, and integration of genomic newborn screening for CPSs into a healthcare system. Furthermore, we assess the effectiveness of commonly utilized decision-support tools in identifying patients who may benefit from genetic counseling and/or direct genetic testing. This investigation highlights a tailored and systematic approach utilizing medical newborn screening tools such as the genome sequencing of high-risk newborns for CPSs, which could be a practical and cost-effective strategy in pediatric cancer care.

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Section: Introductionmentioning

confidence: 99%

Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach

Linga,

Mohammed,

Farrell

et al. 2024

Cancers

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“…Retinoblastoma (RB) is the most common intraocular tumor in children, constituting 10%–15% of all cancers diagnosed in the first year of life 1 . It is an aggressive cancer developing rapidly in the retina, before age 5 years.…”

Section: Introductionmentioning

confidence: 99%

Strategies to improve diagnosis and access to treatment of retinoblastoma in low‐ and middle‐income countries: A systematic review

Rabelo,

de Alvarenga,

Fernando Lopes

et al. 2024

Pediatric Blood & Cancer

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Retinoblastoma, the most common intraocular tumor in childhood, still faces challenges in diagnosis and treatment, particularly in low‐ and middle‐income countries. Identifying strategies to improve the time to diagnosis and access to treatment is crucial to enhance survival rates and preserve ocular health. We conducted a systematic review to identify interventions that have demonstrated potential in addressing these challenges. We performed a comprehensive search across databases until March 2023. Out of the studies reviewed, 21 met the inclusion criteria and were categorized into five main areas: surveillance strategies, genetic counseling, education, public assistance, and international partnership. Despite the obstacles faced, the initiatives identified in this review present acts toward improving the time to diagnosis and access to treatment for retinoblastoma. Based on the extracted data, we propose a comprehensive chain of initiatives. We firmly believe that implementing this chain of initiatives can lead to improved clinical outcomes for retinoblastoma patients.

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Cancer alertness as a basis for timely diagnosis and effectiveness of therapy: A review

et al. 2023

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Early diagnosis of malignant neoplasms in children is an important and relevant task. Despite the growth of actively diagnosed malignant neoplasms, the proportion of cases of the disease at stage III or IV remains high. In the structure of pediatric mortality, malignant neoplasms occupy a significant fraction, which marks the need for a thorough diagnostic search and, in turn, early detection of cancer. For patients who have completed treatment for a malignant neoplasm, active observation regarding the occurrence of a relapse or the appearance of second tumors remains relevant. Detection of malignant neoplasms in the early stages is possible with an appropriate level of cancer alertness, a multidisciplinary approach to the diagnosis and treatment of this rare group of diseases.

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Genetic predisposition in pediatric oncology

Cited by 3 publications

References 129 publications

Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach

Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach

Strategies to improve diagnosis and access to treatment of retinoblastoma in low‐ and middle‐income countries: A systematic review

Cancer alertness as a basis for timely diagnosis and effectiveness of therapy: A review

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