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Friedrich, U.A. ; Bienias, M.* ; Zinke, C.* ; Prazenicova, M.* ; Lohse, J.* ; Jahn, A.* ; Menzel, M.* ; Langanke, J.* ; Walter, C.* ; Wagener, R.* ; Brozou, T.* ; Varghese, J.* ; Dugas, M.* ; Erlacher, M.* ; Schrock, E.* ; Suttorp, M.* ; Borkhardt, A.* ; Hauer, J.* ; Auer, F.*

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

Genet. Med. 25:100875 (2023)

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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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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Clinical Checklists ; Genetic Testing ; Germline Cancer Predisposition ; Pediatric Cancer ; Trio Sequencing; Variants

ISSN (print) / ISBN 1530-0366

e-ISSN 1098-3600

Journal Genetics in Medicine

Quellenangaben Volume: 25, Issue: 8, Article Number: 100875

Publisher Lippincott Williams & Wilkins

Publishing Place Baltimore, Md.

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute for Pancreatic Beta Cell Research (IPI)

Grants
Sonnenstrahl e.V. Dresden -~Forderkreis fur krebskranke Kinder und Jugendliche
Mitteldeutsche Kinderkrebsforschung
Menschen fur Kinder e.V.
German Cancer Aid (Deutsche Krebshilfe, DKH) Exzellenz Forderprorgamm fur etablierte Wissenschaftlerinnen und Wissenschaftler
ERA Per Med.JTC 2018 "GEPARD"
ERC