Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas.
Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas.
复制标题
患有 1 型家族性神经纤维瘤病和视神经胶质瘤的个体的父母。
DOI：
10.1007/s10689-012-9549-z
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发表时间：
2012
期刊：
影响因子：
2.2
通讯作者：
Gutmann,DH
中科院分区：
文献类型：
--
作者：
Johnson,KJ;Fisher,MJ;Listernick,RL;North,KN;Schorry,EK;Viskochil,D;Weinstein,M;Rubin,JB;Gutmann,DH
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant cancer syndromes worldwide. Individuals with NF1 have a wide variety of clinical features including a strongly increased risk for pediatric brain tumors. The etiology of pediatric brain tumor development in NF1 is largely unknown. Recent studies have highlighted the contribution of parent-of-origin effects to tumorigenesis in sporadic cancers and cancer predisposition syndromes; however, there is limited data on this effect for cancers arising in NF1. To increase our understanding of brain tumor development in NF1, we conducted a multi-center retrospective chart review of 240 individuals with familial NF1 who were diagnosed with a pediatric brain tumor (optic pathway glioma; OPG) to determine whether a parent-of-origin effect exists overall or by the patient’s sex. Overall, 50 % of individuals with familial NF1 and an OPG inherited theNF1gene from their mother. Similarly, by sex, both males and females were as likely to inherit theNF1gene from their mother as from their father, with 52 % and 48 % of females and males with OPGs inheriting theNF1gene from their mother. In conclusion, in contrast to findings from other studies of sporadic cancers and cancer predisposition syndromes, our results indicate no parent-of-origin effect overall or by patient sex for OPGs in NF1.
