Nimg-64. novel methods for genotype-phenotype correlation in schwannomatosis

In conclusion, we used a highly efficient method for deep, targeted germline sequencing in patients with schwannomatosis. While numbers were small, pain was significantly higher in LZTR1-mutant patients than SMARCB1-mutant patients, which should be considered for development of disease models and targeted therapies. The anatomic limitations of WBMRI will be addressed in future studies by the addition of dedicated neuraxis imaging. Larger studies of schwannomatosis patients are needed to refine these preliminary observations.

Source: Neuro-Oncology - November 6, 2016 Category: Cancer & Oncology Authors: Jordan, J., Smith, M., Merker, V., Cai, W., Harris, G., Bredella, M., Erdin, S., Gusella, J., Plotkin, S. Tags: NEURO-IMAGING Source Type: research