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- Title
Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis.
- Authors
Terry, Merryl; Gupta, Rohit; Ravindranathan, Ajay; Wu, Jasper; Chan, Emily; Bollen, Andrew W.; Chang, Susan M.; Berger, Mitchel S.; Jacques, Line; Solomon, David A.
- Abstract
While the majority of schwannoma nerve sheath tumors are solitary sporadic tumors, a subset arise as part of heritable tumor predisposition syndromes termed schwannomatosis [[11]]. The identical I SOX10 i mutation was present in each of the four tumors from the first patient, and the identical I SOX10 i mutation was present in both tumors from the second patient (Fig. Based on the observations in these two patients, we conclude somatic mosaicism for I SOX10 i indel mutations causes a form of segmental schwannomatosis lacking other known nerve sheath tumor molecular alterations. The multiple tumors from both patients were found to harbor short in-frame insertion/duplication mutations in the I SOX10 i gene (Supplementary Table S1), similar to those recently discovered in approximately 30% of sporadic solitary schwannomas that were localized at the carboxy-terminal end of the HMG-box DNA binding domain of the encoded homeobox transcription factor (Supplementary Fig.
- Subjects
SOX transcription factors; NERVOUS system tumors; HEREDITY; GENETIC mutation; RAS oncogenes; NEUROFIBROMATOSIS 2; TUMOR suppressor genes
- Publication
Acta Neuropathologica, 2023, Vol 146, Issue 6, p857
- ISSN
0001-6322
- Publication type
Article
- DOI
10.1007/s00401-023-02641-6