A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

Scollon, Sarah; Anglin, Amanda Knoth; Thomas, Martha H.; Turner, Joyce; Schneider, Kami Wolfe

doi:10.1007/s10897-017-0077-8

Cited by 58 publications

(36 citation statements)

References 483 publications

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“…Referral recommendations and tools for providers to recognize appropriate referrals are available. Positive family histories, high-genetic risk solid tumor types (see Table 1), multiple primary tumors, additional physical or clinical features, and treatment toxicity (15)(16)(17)(18) all should be factored into the referral process. In the future, however, genetic testing may be considered for all children with cancer given the limitations of current referral and genetic testing criteria.…”

Section: Points Of Entrymentioning

confidence: 99%

Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient

Druker

Zelley

McGee

et al. 2017

Clinical Cancer Research

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116

118

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As the understanding of the genetic etiology of childhood cancers increases, the need for the involvement of experts familiar with the provision of genetic counseling for this population is paramount. In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which international experts in pediatric cancer predisposition met to establish surveillance guidelines for children with cancer predisposition. Identifying for whom, when, why, and how these cancer predisposition surveillance guidelines should be implemented is essential. Genetic counselors invited to this workshop provide a genetic counseling framework for oncology professionals in this article. Points of entry and recommendations regarding the provision and timing of the initial and subsequent genetic counseling sessions are addressed. The genetic counseling and testing processes are reviewed, and the psychologic impact related to surveillance is explored. Pediatric cancer genetics will continue to grow and evolve as a field, and genetic counseling services will be vital to ensure appropriate identification and management of at-risk children moving forward. Clin Cancer Res; 23(13); e91-e97. Ó2017 AACR.See all articles in the online-only CCR Pediatric Oncology Series.

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Section: Points Of Entrymentioning

confidence: 99%

Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient

Druker

Zelley

McGee

et al. 2017

Clinical Cancer Research

Self Cite

116

118

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“…With the advent of genomic sequencing technologies, germline mutations in cancer predisposition genes have been identified in a growing proportion of children diagnosed with cancer . For example, Zhang et al.…”

Section: Discussionmentioning

confidence: 99%

Multiple pilomatrixomas in a survivor of WNT‐activated medulloblastoma leading to the discovery of a germline APC mutation and the diagnosis of familial adenomatous polyposis

Bendelsmith

Skrypek

Patel

et al. 2017

Pediatric Blood & Cancer

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Because children diagnosed with WNT-activated medulloblastoma have a 10-year overall survival rate of 95%, active long-term follow-up is critically important in reducing mortality from other causes. Here, we describe an 11-year-old adopted female who developed multiple pilomatrixomas 3 years after diagnosis of WNT-activated medulloblastoma, an unusual finding that prompted deeper clinical investigation. A heterozygous germline APC gene mutation was discovered, consistent with familial adenomatous polyposis. Screening endoscopy revealed numerous precancerous polyps that were excised. This case highlights the importance of long-term follow-up of pediatric cancer survivors, including attention to unexpected symptoms, which might unveil an underlying cancer predisposition syndrome.

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“…With more expansive testing, we have begun to recognize that de novo mutations may rarely be observed in early-onset cancers, especially in children ( Oberg et al 2016 ), likely because of effects on reproductive fitness. Hereditary genetic testing was previously not routinely performed in children, but it is now recognized that ∼10% of cancers in children are due to germline mutations in some of the same genes encountered in adult cancers ( BRCA1, BRCA2, PALPB2, CHEK2, TP53, MSH2, VHL ) and also in genes specific to children such as DICER1, WT1, REST , CREBBP, ABCB11, GPC3/4 ( Zhang et al 2015 ; Parsons et al 2016 ; Scollon et al 2017 ). Rarely were biallelic mutations identified in autosomal recessively inherited conditions.…”

Section: Effects On Cancer Genetics Practicementioning

confidence: 99%

The impact of hereditary cancer gene panels on clinical care and lessons learned

Okur

Chung

2017

Cold Spring Harb Mol Case Stud

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Mutations in hereditary cancer syndromes account for a modest fraction of all cancers; however, identifying patients with these germline mutations offers tremendous health benefits to both patients and their family members. There are about 60 genes that confer a high lifetime risk of specific cancers, and this information can be used to tailor prevention, surveillance, and treatment. With advances in next-generation sequencing technologies and the elimination of gene patents for evaluating genetic information, we are now able to analyze multiple genes simultaneously, leading to the widespread clinical use of gene panels for germline cancer testing. Over the last 4 years since these panels were introduced, we have learned about the diagnostic yield of testing, the expanded phenotypes of the patients with mutations, and the clinical utility of genetic testing in patients with cancer and/or without cancer but with a family history of cancer. We have also experienced challenges including the large number of variants of unknown significance (VUSs), identification of somatic mutations and need to differentiate these from germline mutations, technical issues with particular genes and mutations, insurance coverage and reimbursement issues, lack of access to data, and lack of clinical management guidelines for newer and, especially, moderate and low-penetrance genes. The lessons learned from cancer genetic testing panels are applicable to other clinical areas as well and highlight the problems to be solved as we advance genomic medicine.

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A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

Cited by 58 publications

References 483 publications

Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient

Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient

Multiple pilomatrixomas in a survivor of WNT‐activated medulloblastoma leading to the discovery of a germline APC mutation and the diagnosis of familial adenomatous polyposis

The impact of hereditary cancer gene panels on clinical care and lessons learned

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