Cancer predisposing syndromes in childhood and adolescence pose several challenges necessitating interdisciplinary care in dedicated programs

Sep 21, 2026

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Genetic disposition is identified as a major etiologic factor in childhood cancer, with more than 100 known cancer predisposing syndromes requiring effective surveillance. The study retrospectively examines children, adolescents, and young adults referred to a dedicated pediatric CPS program, assessing confirmation by clinical criteria and genetic testing, surveillance uptake, and outcomes. Findings include 48 diagnosed cases and documented neoplasms and metachronous tumors, with psychosocial counselling used for a subset of families. Conclusions emphasize the need for interdisciplinary care and joint clinical-research efforts to improve outcomes.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages8

Reading Time20 min

AccessFree to download

Introduction

Patients and methods

Results

Conclusions

Keywords

TYPE Brief Research Report PUBLISHED 03 June 2024 DOI 10.3389/fped.2024.1410061 EDITED BY Giovana Tardin Torrezan, A.C.Camargo Cancer Center, Brazil REVIEWED BY Angela Mastronuzzi, Bambino Gesù Children’s Hospital (IRCCS), Italy Lisa States, Children’s Hospital of Philadelphia, United States *CORRESPONDENCE Michaela Kuhlen [michaela.kuhlen@uk-augsburg.de](michaela.kuhlen@uk-augsburg.de) RECEIVED 31 March 2024 ACCEPTED 20 May 2024 PUBLISHED 03 June 2024 CITATION Kaffai S, Angelova-Toshkin D, Weins AB, Ickinger S, Steinke-Lange V, Vollert K, Frühwald MC and Kuhlen M (2024) Cancer predisposing syndromes in childhood and adolescence pose several challenges necessitating interdisciplinary care in dedicated programs. Front. Pediatr. 12:1410061 . doi: 10.3389/fped.2024.1410061 COPYRIGHT © 2024 Kaffai, Angelova-Toshkin, Weins, Ickinger, Steinke-Lange, Vollert, Frühwald and Kuhlen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. Cancer predisposing syndromesin childhood and adolescence pose several challenges necessitating interdisciplinary care in dedicated programs Stefanie Kaffai1, Daniela Angelova-Toshkin1, Andreas B. Weins2, Sonja Ickinger1, Verena Steinke-Lange3, Kurt Vollert4, Michael C. Frühwald1 and Michaela Kuhlen1* 1Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, Augsburg, Germany, 2Augsburger Zentrum für Seltene Erkrankungen, University of Augsburg, Augsburg, Germany, 3MGZ-Medizinisch Genetisches Zentrum, Munich, Germany, 4Department of Diagnostic and Interventional Radiology, University of Augsburg, Augsburg, Germany Introduction: Genetic disposition is a major etiologic factor in childhood cancer. More than 100 cancer predisposing syndromes (CPS) are known. Surveillance protocols seek to mitigate morbidity and mortality. To implement recommendations in patient care and to ascertain that the constant gain of knowledge forces its way into practice speciﬁc pediatric CPS programs were established. Patients and methods: We retrospectively analyzed data on children, adolescents, and young adults referred to our pediatric CPS program between October 1, 2021, and March 31, 2023 . Follow-up ended on December 31, 2023 . Results: We identiﬁed 67 patients (30 male, 36 female, 1 non-binary, median age 9. 5 years) . Thirty-ﬁve patients were referred for CPS surveillance, 32 for features suspicious of a CPS including café-au-lait macules (n = 10), overgrowth (n = 9), other speciﬁc symptoms (n = 4), cancer suspicious of a CPS (n = 6), and rare neoplasms (n = 3) . CPS was conﬁrmed by clinical criteria in 6 patients and genetic testing in 7 (of 13) . In addition, 6 clinically unaffected at-risk relatives were identiﬁed carrying a cancer predisposing pathogenic variant. A total of 48 patients were eventually diagnosed with CPS, surveillance recommendations were on record for 45 . Of those, 8 patients did not keep their appointments for various reasons. Surveillance revealed neoplasms (n =2) and metachronous tumors (n = 4) by clinical (n = 2), radiological examination (n = 2), and endoscopy (n = 2) . Psychosocial counselling was utilized by 16 (of 45; 35 . 6%) families. Conclusions: The diverse pediatric CPSs pose several challenges necessitating interdisciplinary care in speciﬁed CPS programs. To ultimately improve outcome including psychosocial well-being joint clinical and research efforts are necessary. KEYWORDS predisposition, children, surveillance, preventive testing, cancer, hereditary Frontiers in Pediatrics 01 [frontiersin.org](frontiersin.org

FAQs

What is the main purpose of the pediatric cancer predisposition program in this report?

To mitigate morbidity and mortality by implementing tailored surveillance protocols and translating emerging knowledge into specific pediatric CPS programs for early detection and less toxic therapies.

How were cancer predisposing syndromes confirmed among referred patients?

The report states CPS was confirmed by clinical criteria in some patients and by genetic testing in others, with additional at-risk relatives identified through pathogenic variant carrier status.

What challenges and care needs are highlighted in the conclusions?

The diverse pediatric CPSs require interdisciplinary care within specified CPS programs, and the report calls for joint clinical and research efforts to improve outcomes, including psychosocial well-being.

Sep 21, 2026

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