Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.

Autor: Postema FAM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., de Borgie CAJM; Clinical Research Unit, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Aalfs CM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Anninga JK; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Berger LPV; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Bleeker FE; Department of Clinical Genetics, Netherlands Cancer Institute, Amsterdam, The Netherlands., Dommering CJ; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., van Eijkelenburg NKA; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Hammond P; Nuffield Department of Obstetrics and Gynecology, University of Oxford, Oxford, UK., van den Heuvel-Eibrink MM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Hol JA; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Kors WA; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Letteboer TGW; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Loeffen JLCM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Meijer L; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Olderode-Berends MJW; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Wagner A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Merks JHM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. j.h.m.merks@prinsesmaximacentrum.nl.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands. j.h.m.merks@prinsesmaximacentrum.nl.
Jazyk: angličtina
Zdroj: Familial cancer [Fam Cancer] 2021 Oct; Vol. 20 (4), pp. 263-271. Date of Electronic Publication: 2021 Mar 09.
DOI: 10.1007/s10689-021-00237-1
Abstrakt: Recognizing a tumor predisposition syndrome (TPS) in a child with cancer is of clinical relevance. Earlier we developed a screening tool to increase diagnostic accuracy and clinical efficiency of identifying TPSs in children with cancer. Here we report on the value of this tool in clinical practice. TuPS is a prospective, observational, multi-center study including children newly diagnosed with cancer from 2016 to 2019 in the Netherlands. Children in whom a TPS had been diagnosed before the cancer diagnosis were excluded. The screening tool consists of a checklist, 2D and 3D photographic series and digital assessment of these by a clinical geneticist. If a TPS was suspected, the patient was assessed positive and referred for routine genetic consultation. Primary aim was to assess the clinical value of this new screening tool. Of the 363 included patients, 57% (208/363) were assessed positive. In 15% of patients (32/208), the 2D photographic series with (n = 12) or without (n = 20) 3D photographs were decisive in the positive assessment. In 2% (4/208) of positive assessed patients, a TPS was diagnosed, and in an additional 2% (4/208) a germline variant of uncertain significance was found. Thirty-five negatively assessed patients were evaluated through routine genetic consultation as controls, in none a TPS was detected. Using the screening tool, 57% of the patients were assessed as suspected for having a TPS. No false negative results were identified in the negative control group in the clinical care setting. The observed prevalence of TPS was lower than expected, due to selection bias in the cohort.
(© 2021. The Author(s).)
Databáze: MEDLINE
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