Short Communication

Familial Cancer

, Volume 11, Issue 4, pp 653-656

First online:

Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas

  • K. J. JohnsonAffiliated withBrown School, Washington University in St. LouisDepartment of Pediatrics, School of Medicine, Washington University in St. LouisPublic Health Program, George Warren Brown School, 237 Goldfarb Hall, Campus Box 1196, Washington University in St. Louis Email author 
  • , M. J. FisherAffiliated withDepartment of Oncology, The Children’s Hospital of Philadelphia, University of PennsylvaniaDepartment of Pediatrics, The Perelman School of Medicine, University of Pennsylvania
  • , R. L. ListernickAffiliated withChildren’s Memorial Hospital
  • , K. N. NorthAffiliated withUniversity of Sydney
  • , E. K. SchorryAffiliated withCincinnati Children’s Hospital
  • , D. ViskochilAffiliated withUniversity of Utah
  • , M. WeinsteinAffiliated withSick Kids, University of Toronto
  • , J. B. RubinAffiliated withDivision of Pediatric Hematology-Oncology, Department of Pediatrics, Washington University School of Medicine
  • , D. H. GutmannAffiliated withDepartment of Neurology, Washington University School of Medicine

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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 the NF1 gene from their mother. Similarly, by sex, both males and females were as likely to inherit the NF1 gene from their mother as from their father, with 52 % and 48 % of females and males with OPGs inheriting the NF1 gene 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.


Parent-of-origin Neurofibromatosis type 1 Optic pathway glioma Brain tumor