When does it make sense to perform genetic testing in children with malignant diseases?
DOI:
https://doi.org/10.13112/pc.1053Keywords:
NEOPLASMS; SYNDROME; GENETIC COUNSELING; GENETIC TESTINGAbstract
Hereditary cancer syndromes are a group of inherited diseases caused by single-gene mutations that increase the risk of developing one or more malignancies during a lifetime, compared to the general population. Although most of these syndromes manifest in adulthood, some can occur during childhood. To date, over 100 hereditary cancer syndromes that manifest during childhood have been identified.
Early detection of a pediatric patient with hereditary cancer syndrome is crucial for both the child and their family, leading to a better prognosis, more beneficial treatment outcomes, and, when possible, the selection of targeted treatment. It also helps us establish an appropriate surveillance plan to detect multiple malignancies in a timely manner. Selective screening of family members provides important information about relatives who may be at risk, which is vital for appropriate genetic counseling.
References
1. Saletta F, Pozza LD, Byrne JA. Genetic causes of cancer predisposition in children and adolescents. Transl Pediatr [Internet]. 2015 Apr [cited 4. 2. 2025.];4(2):675–675. Available from: https://tp.amegroups.org/article/view/6267. doi: 10.3978/j.issn.2224-4336.2015.04.08.
2. Garutti M, Foffano L, Mazzeo R, et al. Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool. Genes. 2023 Apr 30;14(5):1025. doi: 10.3390/genes14051025.
3. Pruteanu DP, Olteanu DE, Cosnarovici R, Mihut E, Nagy V. Genetic predisposition in pediatric oncology. Med Pharm Rep [Internet]. 2020 Oct [cited 4. 2. 2025.];93(4):323–34. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664724/. doi: 10.15386/mpr-1576.
4. Brodeur GM, Nichols KE, Plon SE, Schiffman JD, Malkin D. Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr. Clin Cancer Res [Internet]. 2017 May 31 [cited 4. 2. 2025.];23(11):e1–5. Available from: https://doi.org/10.1158/1078-0432.CCR-17-0702. doi: 10.1158/1078-0432.CCR-17-0702.
5. Brioude F, Kalish JM, Mussa A,et al. Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol [Internet]. 2018 Apr [cited 4. 2. 2025.];14(4):229–49. Available from: https://www.nature.com/articles/nrendo.2017.166. doi: 10.1038/nrendo.2017.166.
6. Duffy KA, Trout KL, Gunckle JM, Krantz SM, Morris J, Kalish JM. Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management. Front Pediatr. 2021;9:733018. doi: 10.3389/fped.2021.733018.
7. Rabin KR, Whitlock JA. Malignancy in Children with Trisomy 21. The oncologist [Internet]. 2009 Feb [cited 4. 2. 2025.];14(2):164–73. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761094/. doi: 10.1634/theoncologist.2008-0217.
8. Kalish JM, Doros L, Helman LJ, et al. Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Clin Cancer Res [Internet]. 2017 Jul 2 [cited 4. 2. 2025.];23(13):e115–22. Available from: https://doi.org/10.1158/1078-0432.CCR-17-0710. doi: 10.1158/1078-0432.CCR-17-0710.
9. Kratz CP, Achatz MI, Brugières L, et al. Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. Clin Cancer Res [Internet]. 2017 May 31 [cited 4. 2. 2025.];23(11):e38–45. Available from: https://doi.org/10.1158/1078-0432.CCR-17-0408. doi: 10.1158/1078-0432.CCR-17-0408.
10. Kamihara J, Bourdeaut F, Foulkes WD, et al. Retinoblastoma and Neuroblastoma Predisposition and Surveillance. Clin Cancer Res Off J Am Assoc Cancer Res. 2017 Jul 1;23(13):e98–106. doi: 10.1158/1078-0432.CCR-17-0652.
11. Walsh MF, Chang VY, Kohlmann WK,et al. Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. Clin Cancer Res Off J Am Assoc Cancer Res [Internet]. 2017 Jun 1 [cited 4. 2. 2025.];23(11):e23–31. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5697784/. doi: 10.1158/1078-0432.CCR-17-0465.
12. Nalepa G, Clapp DW. Fanconi anaemia and cancer: an intricate relationship. Nat Rev Cancer. 2018 Mar;18(3):168–85. doi: 10.1038/nrc.2017.116.
13. Yuan J, He R, Alkhateeb HB. Sporadic and Familial Acute Myeloid Leukemia with CEBPA Mutations. Curr Hematol Malig Rep [Internet]. 2023 [cited 4. 2. 2025.];18(5):121–9. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10484814/. doi: 10.1007/s11899-023-00699-3.
14. Villani A, Greer MLC, Kalish JM,et al. Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk. Clin Cancer Res [Internet]. 2017 Jun 14 [cited 4. 2. 2025.];23(12):e83–90. Available from: https://doi.org/10.1158/1078-0432.CCR-17-0631. doi: 10.1158/1078-0432.CCR-17-0631.
15. Achatz MI, Porter CC, Brugières L, et al. Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood. Clin Cancer Res [Internet]. 2017 Jul 2 [cited 4. 2. 2025.];23(13):e107–14. Available from: https://doi.org/10.1158/1078-0432.CCR-17-0790. doi: 10.1158/1078-0432.CCR-17-0790.
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