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      Predisposition to cancer in children and adolescents.

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          Abstract

          Childhood malignancies are rarely related to known environmental exposures, and it has become increasingly evident that inherited genetic factors play a substantial causal role. Large-scale sequencing studies have shown that approximately 10% of children with cancer have an underlying cancer predisposition syndrome. The number of recognised cancer predisposition syndromes and cancer predisposition genes are constantly growing. Imaging and laboratory technologies are improving, and knowledge of the range of tumours and risk of malignancy associated with cancer predisposition syndromes is increasing over time. Consequently, surveillance measures need to be constantly adjusted to address these new findings. Management recommendations for individuals with pathogenic germline variants in cancer predisposition genes need to be established through international collaborative studies, addressing issues such as genetic counselling, cancer prevention, cancer surveillance, cancer therapy, psychological support, and social-ethical issues. This Review represents the work by a group of experts from the European Society for Paediatric Oncology (SIOPE) and aims to summarise the current knowledge and define future research needs in this evolving field.

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          The landscape of genomic alterations across childhood cancers

          Susanne N. Gröbner, Barbara C. Worst, Joachim Weischenfeldt … (2018)
          Pan-cancer analyses that examine commonalities and differences among various cancer types have emerged as a powerful way to obtain novel insights into cancer biology. Here we present a comprehensive analysis of genetic alterations in a pan-cancer cohort including 961 tumours from children, adolescents, and young adults, comprising 24 distinct molecular types of cancer. Using a standardized workflow, we identified marked differences in terms of mutation frequency and significantly mutated genes in comparison to previously analysed adult cancers. Genetic alterations in 149 putative cancer driver genes separate the tumours into two classes: small mutation and structural/copy-number variant (correlating with germline variants). Structural variants, hyperdiploidy, and chromothripsis are linked to TP53 mutation status and mutational signatures. Our data suggest that 7-8% of the children in this cohort carry an unambiguous predisposing germline variant and that nearly 50% of paediatric neoplasms harbour a potentially druggable event, which is highly relevant for the design of future clinical trials.
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            The genetic landscape of high-risk neuroblastoma

            Trevor J Pugh, Olena Morozova, Edward F. Attiyeh … (2013)
            Neuroblastoma is a malignancy of the developing sympathetic nervous system that often presents with widespread metastatic disease, resulting in survival rates of less than 50% 1 . To determine the spectrum of somatic mutation in high-risk neuroblastoma, we studied 240 cases using a combination of whole exome, genome and transcriptome sequencing as part of the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) initiative. Here we report a low median exonic mutation frequency of 0.60 per megabase (0.48 non-silent), and remarkably few recurrently mutated genes in these tumors. Genes with significant somatic mutation frequencies included ALK (9.2% of cases), PTPN11 (2.9%), ATRX (2.5%, an additional 7.1% had focal deletions), MYCN (1.7%, a recurrent p.Pro44Leu alteration), and NRAS (0.83%). Rare, potentially pathogenic germline variants were significantly enriched in ALK, CHEK2, PINK1, and BARD1. The relative paucity of recurrent somatic mutations in neuroblastoma challenges current therapeutic strategies reliant upon frequently altered oncogenic drivers.
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              Germline Mutations in Predisposition Genes in Pediatric Cancer

              Jinghui Zhang, Michael F. Walsh, Gang Wu … (2015)
              The prevalence and spectrum of predisposing mutations among children and adolescents with cancer are largely unknown. Knowledge of such mutations may improve the understanding of tumorigenesis, direct patient care, and enable genetic counseling of patients and families.
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                Author and article information

                Journal
                Journal ID (iso-abbrev): Lancet Child Adolesc Health
                Title: The Lancet. Child & adolescent health
                Publisher: Elsevier BV
                ISSN (Electronic): 2352-4650
                ISSN (Print): 2352-4642
                Publication date (Electronic): Feb 2021
                Volume: 5
                Issue: 2
                Affiliations
                [1 ] Paediatric Haematology and Oncology, Hannover Medical School, Hannover, Germany.
                [2 ] Princess Máxima Center for Paediatric Oncology, Utrecht, Netherlands; Department of Genetics, University Medical Center Utrecht, Princess Máxima Center for Paediatric Oncology, Utrecht, Netherlands.
                [3 ] Department of Genetics, Assistance Publique Hôpitaux de Paris-Robert Debre University Hospital, Paris, France; Denis Diderot School of Medicine, University of Paris, Paris, France; Institut National de la Santé et de la Recherche Médicale (INSERM), UMR 1131, Institut de Recherche Saint Louis, Paris, France.
                [4 ] Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
                [5 ] Wellcome Sanger Institute, Cambridge, UK; Department of Paediatrics, University of Cambridge, Cambridge, UK.
                [6 ] Department of Children and Adolescents Oncology, Gustave Roussy, Villejuif, Paris, France.
                [7 ] Clinical Cooperation Unit Paediatric Oncology, German Cancer Research Center and German Consortium for Translational Cancer Research, Heidelberg, Germany; KiTZ Clinical Trial Unit, Department of Paediatric Haematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany; Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
                [8 ] Department of Genetics, Institut Curie, Paris, France; Paris Sciences Lettres Research University, Paris, France.
                [9 ] Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
                [10 ] Paediatric Oncology, London, UK.
                [11 ] Department of Medical Genetics, University of Cambridge, Cambridge, UK; NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.
                [12 ] Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
                [13 ] SIREDO Paediatric Cancer Center, Institut Curie, Paris, France; INSERM U830, Laboratory of Translational Research in Paediatric Oncology, Institut Curie, Paris, France; Paris Sciences Lettres Research University, Paris, France. Electronic address: franck.bourdeaut@curie.fr.
                Article
                Publisher Item ID: S2352-4642(20)30275-3
                DOI: 10.1016/S2352-4642(20)30275-3
                PubMed ID: 33484663
                SO-VID: cc0c577c-1cc1-4099-9219-3283085e7c7a
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