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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

Purpose - Clinical checklists are the standard of care to determine whether a child with cancer shows indications for genetic testing. Nevertheless, the efficacy of these tests to reliably detect genetic cancer predisposition in children with cancer is still insufficiently investigated. - Methods -...

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Main Authors: Friedrich, Ulrike A. (Author) , Bienias, Marc (Author) , Zinke, Claudia (Author) , Prazenicova, Maria (Author) , Lohse, Judith (Author) , Jahn, Arne (Author) , Menzel, Maria (Author) , Langanke, Jonas (Author) , Walter, Carolin (Author) , Wagener, Rabea (Author) , Brozou, Triantafyllia (Author) , Varghese, Julian (Author) , Dugas, Martin (Author) , Erlacher, Miriam (Author) , Schröck, Evelin (Author) , Suttorp, Meinolf (Author) , Borkhardt, Arndt (Author) , Hauer, Julia Christina (Author) , Auer, Franziska (Author)
Format: Article (Journal)
Language:English
Published: August 2023
In: Genetics in medicine
Year: 2023, Volume: 25, Issue: 8, Pages: 1-11
ISSN:1530-0366
DOI:10.1016/j.gim.2023.100875
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.gim.2023.100875
Verlag, kostenfrei, Volltext: https://www.sciencedirect.com/science/article/pii/S1098360023008882
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Author Notes:Ulrike A. Friedrich, Marc Bienias, Claudia Zinke, Maria Prazenicova, Judith Lohse, Arne Jahn, Maria Menzel, Jonas Langanke, Carolin Walter, Rabea Wagener, Triantafyllia Brozou, Julian Varghese, Martin Dugas, Miriam Erlacher, Evelin Schröck, Meinolf Suttorp, Arndt Borkhardt, Julia Hauer, Franziska Auer

MARC

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520 |a Purpose - Clinical checklists are the standard of care to determine whether a child with cancer shows indications for genetic testing. Nevertheless, the efficacy of these tests to reliably detect genetic cancer predisposition in children with cancer is still insufficiently investigated. - Methods - We assessed the validity of clinically recognizable signs to identify cancer predisposition by correlating a state-of-the-art clinical checklist to the corresponding exome sequencing analysis in an unselected single-center cohort of 139 child-parent data sets. - Results - In total, one-third of patients had a clinical indication for genetic testing according to current recommendations, and 10.1% (14 of 139) of children harbored a cancer predisposition. Of these, 71.4% (10 of 14) were identified through the clinical checklist. In addition, >2 clinical findings in the checklist increased the likelihood to identifying genetic predisposition from 12.5% to 50%. Furthermore, our data revealed a high rate of genetic predisposition (40%, 4 of 10) in myelodysplastic syndrome cases, while no (likely) pathogenic variants were identified in the sarcoma and lymphoma group. - Conclusion - In summary, our data show high checklist sensitivity, particularly in identifying childhood cancer predisposition syndromes. Nevertheless, the checklist used here also missed 29% of children with a cancer predisposition, highlighting the drawbacks of sole clinical evaluation and underlining the need for routine germline sequencing in pediatric oncology. 
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