A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children

Friedrich, Ulrike; Bienias, Marc; Zinke, Claudia; Prazenicova, Maria; Lohse, Judith; Jahn, Arne; Menzel, Maria; Langanke, Jonas; Walter, Carolin; Wagener, Rabea; Brozou, Triantafyllia; Varghese, Julian; Dugas, Martin; Erlacher, Miriam; Suttorp, Meinolf; Hauer, Julia; Auer, Franziska

doi:10.1016/j.gim.2023.100875

Cited by 2 publications

(3 citation statements)

References 39 publications

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“…In addition, routine screening for germline mutations in pediatric neuro-oncology patients has been found to reveal unsuspected CPSs and impact care [ 128 ]. However, the efficacy of clinical checklists in reliably detecting genetic cancer predisposition in children with cancer is still insufficient, highlighting the need for routine germline sequencing of pediatric cancers [ 135 ]. Surveillance protocols for pediatric patients with CPSs often include regular imaging, such as whole-body MRI, to detect malignant neoplasms [ 78 ].…”

Section: Screening Methodologymentioning

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: Screening Methodologymentioning

confidence: 99%

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

Linga,

Mohammed,

Farrell

et al. 2024

Cancers

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“…After obtaining the above encouraging in vivo functional results, we mined germline WES data from other 178 children BCP‐ALL who had been treated in several additional German pediatric oncology centers. Thus, overall our study comprised 283 children with BCP‐ALL, of whom we collected comprehensive clinical and germline data after obtaining informed consent 13,14 . The median age at diagnosis was 4.8 years with an age range of 3 months to 17.4 years.…”

Section: Figurementioning

confidence: 99%

“…Thus, overall our study comprised 283 children with BCP-ALL, of whom we collected comprehensive clinical and germline data after obtaining informed consent. 13,14 The median age at diagnosis was 4.8 years with an age range of 3 months to 17.4 years. We observed a slight male predominance in our cohort with 156 male (55%) and 127 female patients (45%).…”

mentioning

confidence: 99%

Hyperdiploid acute lymphoblastic leukemia in children with LZTR1 germline variants

Zipper,

Wagener,

Fischer

et al. 2024

HemaSphere

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A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children

Cited by 2 publications

References 39 publications

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

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

Hyperdiploid acute lymphoblastic leukemia in children with LZTR1 germline variants

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