How I approach hereditary cancer predisposition in a child with cancer.


Journal

Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624

Informations de publication

Date de publication:
11 2019
Historique:
received: 27 02 2019
revised: 18 06 2019
accepted: 21 06 2019
pubmed: 26 7 2019
medline: 26 2 2020
entrez: 26 7 2019
Statut: ppublish

Résumé

Approximately 10% of all children with cancer are affected by a monogenic cancer predisposition syndrome. This has important implications for both the child and her/his family. The assessment of hereditary cancer predisposition is a challenging task for clinicians and genetic counselors in daily routine. It includes consideration of tumor genetics, specific features of the patient, and the medical/family history. To keep up with the pace of this rapidly evolving and increasingly complex field of genetic susceptibility, we suggest a systematic approach for the evaluation of the child with cancer and her/his family by an interdisciplinary team specialized in hereditary cancer predisposition.

Identifiants

pubmed: 31342632
doi: 10.1002/pbc.27916
doi:

Substances chimiques

Antineoplastic Agents 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e27916

Informations de copyright

© 2019 Wiley Periodicals, Inc.

Références

Steliarova-Foucher E, Colombet M, Ries LAG, et al. International incidence of childhood cancer, 2001-10: a population-based registry study. Lancet Oncol. 2017;18(6):719-731.
Grosche B, Kaatsch P, Heinzow B, Wichmann HE. The Krummel (Germany) Childhood Leukaemia Cluster: a review and update. J Radiol Prot. 2017;37(4):R43-R58.
Schuz J, Kaatsch P, Kaletsch U, Meinert R, Michaelis J. Association of childhood cancer with factors related to pregnancy and birth. Int J Epidemiol. 1999;28(4):631-639.
Martin-Lorenzo A, Hauer J, Vicente-Duenas C, et al. Infection exposure is a causal factor in B-cell precursor acute lymphoblastic leukemia as a result of Pax5-inherited susceptibility. Cancer Discov. 2015;5(12):1328-1343.
Zhang J, Walsh MF, Wu G, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373(24):2336-2346.
Grobner SN, Worst BC, Weischenfeldt J, et al. The landscape of genomic alterations across childhood cancers. Nature. 2018;555(7696):321-327.
Kuhlen M, Borkhardt A. Trio sequencing in pediatric cancer and clinical implications. EMBO Mol Med. 2018;10(4):e8641.
Diets IJ, Hoyer J, Ekici AB, et al. TRIM28 haploinsufficiency predisposes to Wilms tumor. Int J Cancer. 2019. 10.1002/ijc.32167.
Waszak SM, Tiao G, Zhu B, et al. Germline determinants of the somatic mutation landscape in 2,642 cancer genomes. bioRxiv. 2017. https://doi.org/10.1101/208330.
Ballinger ML, Goode DL, Ray-Coquard I, et al. Monogenic and polygenic determinants of sarcoma risk: an international genetic study. Lancet Oncol. 2016;17(9):1261-1271.
Villani A, Shore A, Wasserman JD, et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. Lancet Oncol. 2016;17(9):1295-1305.
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. 2017;23(11):e1-e5.
Malkin D, Nichols KE, Schiffman JD, Plon SE, Brodeur GM. The future of surveillance in the context of cancer predisposition: through the murky looking glass. Clin Cancer Res. 2017;23(21):e133-e137.
Ripperger T, Bielack SS, Borkhardt A, et al. Childhood cancer predisposition syndromes-a concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. Am J Med Genet A. 2017;173(4):1017-1037.
Postema FA, Hopman SM, de Borgie CA, et al. Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study. BMJ Open. 2017;7(1):e013237.
Jongmans MC, Loeffen JL, Waanders E, et al. Recognition of genetic predisposition in pediatric cancer patients: an easy-to-use selection tool. Eur J Med Genet. 2016;59(3):116-125.
Hamilton A, Smith E, Hamon J, Tomiak E, Bassal M, Sawyer SL. Using family history forms in pediatric oncology to identify patients for genetic assessment. Curr Oncol. 2017;24(6):e441-e445.
Del Risco Kollerud R, Blaasaas KG, Claussen B, et al. Family history of cancer and the risk of childhood solid tumours: a Norwegian nationwide register-based cohort study. Br J Cancer. 2018;118(6):905-912.
Chan SH, Chew W, Ishak NDB, et al. Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours. NPJ Genom Med. 2018;3:30.
Drazer MW, Kadri S, Sukhanova M, et al. Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies. Blood Adv. 2018;2(2):146-150.
Huang KL, Mashl RJ, Wu Y, et al. Pathogenic germline variants in 10,389 adult cancers. Cell. 2018;173(2):355-370.
Parsons DW, Roy A, Yang Y, et al. Diagnostic yield of clinical tumor and germline whole-exome sequencing for children with solid tumors. JAMA Oncol. 2016;2(5):616-624.
Rausch T, Jones DT, Zapatka M, et al. Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell. 2012;148(1-2):59-71.
Kuhlen M, Borkhardt A. Cancer susceptibility syndromes in children in the area of broad clinical use of massive parallel sequencing. Eur J Pediatr. 2015;174(8):987-997.
Comeaux EQ, Mullighan CG. TP53 mutations in hypodiploid acute lymphoblastic leukemia. Cold Spring Harb Perspect Med. 2017;7(3). pii: a026286.
Waszak SM, Northcott PA, Buchhalter I, et al. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Lancet Oncol. 2018;19(6):785-798.
Hettmer S, Archer NM, Somers GR, et al. Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. Cancer. 2014;120(7):1068-1075.
Doros L, Yang J, Dehner L, et al. DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. Pediatr Blood Cancer. 2012;59(3):558-560.
Nemes K, Bens S, Bourdeaut F, et al. Rhabdoid tumor predisposition syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. Seattle, WA: GeneReviews((R)); 1993.
Hill DA, Ivanovich J, Priest JR, et al. DICER1 mutations in familial pleuropulmonary blastoma. Science. 2009;325(5943):965.
Schultze-Florey RE, Graf N, Vorwerk P, Koscielniak E, Schneider DT, Kratz CP. DICER1 syndrome: a new cancer syndrome. Klin Padiatr. 2013;225(3):177-178.
Merino DM, Shlien A, Villani A, et al. Molecular characterization of choroid plexus tumors reveals novel clinically relevant subgroups. Clin Cancer Res. 2015;21(1):184-192.
Lassaletta A, Zapotocky M, Bouffet E, Hawkins C, Tabori U. An integrative molecular and genomic analysis of pediatric hemispheric low-grade gliomas: an update. Childs Nerv Syst. 2016;32(10):1789-1797.
Rivera B, Gayden T, Carrot-Zhang J, et al. Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors. Acta Neuropathol (Berl). 2016;131(6):847-863.
Aretz S, Siebert R. Seltene. Tumor dispositions syndrome. medge. 2017;29(3):273-275.
Stephens PJ, Greenman CD, Fu B, et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell. 2011;144(1):27-40.
Alexandrov LB, Nik-Zainal S, Wedge DC, et al. Signatures of mutational processes in human cancer. Nature. 2013;500(7463):415-421.
Qian M, Cao X, Devidas M, et al. TP53 germline variations influence the predisposition and prognosis of B-cell acute lymphoblastic leukemia in children. J Clin Oncol. 2018;36(6):591-599.
Archer NM, Amorim RP, Naves R, et al. An increased risk of second malignant neoplasms after rhabdomyosarcoma: population-based evidence for a cancer predisposition syndrome. Pediatr Blood Cancer. 2016;63(2):196-201.
Pinto N, Hawkins DS. Second malignant neoplasms in rhabdomyosarcoma: victims of our own success or an underlying genetic predisposition syndrome. Pediatr Blood Cancer. 2016;63(2):189-190.
Fidler MM, Reulen RC, Winter DL, et al. Risk of subsequent bone cancers among 69 460 five-year survivors of childhood and adolescent cancer in Europe. J Natl Cancer Inst. 2018;110(2). 10.1093/jnci/djx165.
Bomken S, van der Werff Ten Bosch J, Attarbaschi A, et al. Current understanding and future research priorities in malignancy associated with inborn errors of immunity and DNA repair disorders: the perspective of an interdisciplinary working group. Front Immunol. 2018;9:2912.
Teepen JC, van Leeuwen FE, Tissing WJ, et al. Long-term risk of subsequent malignant neoplasms after treatment of childhood cancer in the DCOG LATER study cohort: role of chemotherapy. J Clin Oncol. 2017;35(20):2288-2298.
Kimonis VE, Goldstein AM, Pastakia B, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. 1997;69(3):299-308.
Diets IJ, Waanders E, Ligtenberg MJ, et al. High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer. Clin Cancer Res. 2018;24(7):1594-1603.
Reigstad MM, Larsen IK, Myklebust TA, et al. Risk of cancer in children conceived by assisted reproductive technology. Pediatrics. 2016;137(3):e20152061.
Williams CL, Bunch KJ, Stiller CA, et al. Cancer risk among children born after assisted conception. N Engl J Med. 2013;369(19):1819-1827.
Sundh KJ, Henningsen AK, Kallen K, et al. Cancer in children and young adults born after assisted reproductive technology: a Nordic cohort study from the Committee of Nordic ART and Safety (CoNARTaS). Hum Reprod. 2014;29(9):2050-2057.
Hadizadeh H, Salehi M, Khoramnejad S, Vosoughi K, Rezaei N. The association between parental consanguinity and primary immunodeficiency diseases: a systematic review and meta-analysis. Pediatr Allergy Immunol. 2017;28(3):280-287.
Tinat J, Bougeard G, Baert-Desurmont S, et al. 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol. 2009;27(26):e108-109. author reply e110.
Kline CN, Joseph NM, Grenert JP, et al. Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy. Neuro-Oncol. 2017;19(5):699-709.
Al-Mulla F, Bland JM, Serratt D, Miller J, Chu C, Taylor GT. Age-dependent penetrance of different germline mutations in the BRCA1 gene. J Clin Pathol. 2009;62(4):350-356.
Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet. 2013;132(10):1077-1130.
Manchanda R, Loggenberg K, Sanderson S, et al. Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial. J Natl Cancer Inst. 2015;107(1):379.
Chan SH, Lim WK, Ishak NDB, et al. Germline mutations in cancer predisposition genes are frequent in sporadic sarcomas. Sci Rep. 2017;7(1):10660.
Evans JP, Skrzynia C, Burke W. The complexities of predictive genetic testing. BMJ. 2001;322(7293):1052-1056.
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol. 2003;21(12):2397-2406.
Patenaude AF. The genetic testing of children for cancer susceptibility: ethical, legal, and social issues. Behav Sci Law. 1996;14(4):393-410.
Parsons DW, Roy A, Plon SE, Roychowdhury S, Chinnaiyan AM. Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings. J Clin Oncol. 2014;32(21):2203-2205.
Stanislaw C, Xue Y, Wilcox WR. Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing. Cancer Biol Med. 2016;13(1):55-67.
Lane M, Ngueng Feze I, Joly Y. Genetics and personal insurance: the perspectives of Canadian cancer genetic counselors. J Genet Couns. 2015;24(6):1022-1036.
Henn J, Spier I, Adam RS, et al. Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes. Hered Cancer Clin Pract. 2019;17:5.
Plon SE, Wheeler DA, Strong LC, et al. Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011;204(1):19-25.
Mestek-Boukhibar L, Clement E, Jones WD, et al. Rapid paediatric sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. J Med Genet. 2018;55(11):721-728.
Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312(18):1880-1887.
Brozou T, Taeubner J, Velleuer E, et al. Genetic predisposition in children with cancer-affected families' acceptance of Trio-WES. Eur J Pediatr. 2018;177(1):53-60.
Sahoo SS, Pastor Loyola V, Panda PK, et al. SAMD9 and SAMD9L germline disorders in patients enrolled in studies of the European Working Group of MDS in childhood (EWOG-MDS): prevalence, outcome, phenotype and functional characterisation. 2018;132(Suppl 1):643-643.
Rusch M, Nakitandwe J, Shurtleff S, et al. Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. Nat Commun. 2018;9(1):3962.
Waanders E, Scheijen B, Jongmans MC, et al. Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences. Leukemia. 2017;31(4):821-828.
Lin M, Nebral K, Gertzen CGW, et al. JAK2 p.G571S in B-cell precursor acute lymphoblastic leukemia: a synergizing germline susceptibility. Leukemia. 2019. 10.1038/s41375-019-0459-z. [Epub ahead of print]
Godard B, Hurlimann T, Letendre M, Egalite N, BRCAs I. Guidelines for disclosing genetic information to family members: from development to use. Fam Cancer. 2006;5(1):103-116.
Callier S, Simpson R. Genetic diseases and the duty to disclose. Virtual Mentor. 2012;14(8):640-644.
Pollack IF, Hamilton RL, Sobol RW, et al. Mismatch repair deficiency is an uncommon mechanism of alkylator resistance in pediatric malignant gliomas: a report from the Children's Oncology Group. Pediatr Blood Cancer. 2010;55(6):1066-1071.
Fujii K, Miyashita T. Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review. Pediatr Int. 2014;56(5):667-674.
Sherborne AL, Lavergne V, Yu K, et al. Somatic and germline TP53 alterations in second malignant neoplasms from pediatric cancer survivors. Clin Cancer Res. 2017;23(7):1852-1861.
Le DT, Uram JN, Wang H, et al. PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med. 2015;372(26):2509-2520.
Villani A, Malkin D, Tabori U. Syndromes predisposing to pediatric central nervous system tumors: lessons learned and new promises. Curr Neurol Neurosci Rep. 2012;12(2):153-164.
Villani A, Tabori U, Schiffman J, et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol. 2011;12(6):559-567.
Berkman BE, Hull SC. The “right not to know” in the genomic era: time to break from tradition. Am J Bioeth. 2014;14(3):28-31.

Auteurs

Michaela Kuhlen (M)

University Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.

Dagmar Wieczorek (D)

Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Duesseldorf, Germany.

Reiner Siebert (R)

Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.

Michael C Frühwald (MC)

University Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH