Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review

被引：0

作者：

Aamira Huq

Maira Kentwell

Amanda Tirimacco

Jacqueline Rossini

Lesley Rawlings

Ingrid Winship

机构：

[1] University of Melbourne,Clinical Genetics and Familial Cancer Centre, The Royal Melbourne Hospital

[2] IMVS,Familial Cancer Section, Department of Genetics and Molecular Pathology

[3] University of Melbourne,Department of Medicine, The Royal Melbourne Hospital

来源：

Familial Cancer | 2015年 / 14卷

关键词：

Neurofibromatosis; Vestibular schwannoma; NF1 and NF2;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

We describe a young patient with typical neurofibromatosis type 1 on the basis of a mutation in the NF1 gene, who was diagnosed with a unilateral vestibular schwannoma caused by a somatic mutation in the NF2 gene. This combination has not been described before. This report highlights the requirement for ongoing surveillance regarding other manifestations of neurofibromatosis type 2 in such patients, as mosaicism cannot be ruled out. In addition to the NF1 mutation, the NF2 mutation should be considered in such cases if pre-implantation genetic diagnosis in undertaken.

引用

页码：157 / 160

页数：3

共 17 条

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