Aflac Cancer & Blood Disorders Center, Children's Healthcare of Atlanta, 1760 Haygood Drive, E370, Atlanta, GA, 30322, USA.
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Curr Oncol Rep. 2019 Aug 15;21(10):85. doi: 10.1007/s11912-019-0836-9.
Germline genetic variants contribute to a substantial proportion of cases of cancer in childhood. The purpose of this review is to describe two emerging pediatric cancer predisposition syndromes, including published surveillance protocols, as well as the psychological impacts related to childhood cancer predisposition.
DICER1 syndrome is pleotropic, predisposing to a variety of tumors and likely phenotypically broader than currently realized. Rhabdoid tumor predisposition syndrome carries a risk for development of aggressive malignancies occurring in nearly any tissue. New pediatric hereditary cancer syndromes are likely to be identified as genetic evaluation evolves. Advantages and disadvantages of genetic testing and surveillance protocols need to be discussed with patients and families in a team-based approach, with the input of a genetic counselor holding expertise in pediatric cancer predisposition. Finally, literature on psychosocial impacts of hereditary cancer syndromes in pediatric patients is sparse, necessitating further research.
胚系遗传变异导致儿童癌症病例的很大一部分。本综述的目的是描述两种新出现的儿科癌症易感性综合征，包括已发表的监测方案，以及与儿童癌症易感性相关的心理影响。
DICER1 综合征具有多效性，易患多种肿瘤，且表型可能比目前认识的更为广泛。横纹肌瘤易感性综合征可发生几乎任何组织的侵袭性恶性肿瘤。随着遗传评估的发展，可能会发现新的儿科遗传性癌症综合征。需要通过团队合作的方式，与患者和家属讨论基因检测和监测方案的优缺点，并由具有儿科癌症易感性专业知识的遗传咨询师提供意见。最后，儿科遗传性癌症综合征的心理社会影响方面的文献很少，需要进一步研究。
Zotero 插件