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. 2023 Dec;146(6):857-860.
doi: 10.1007/s00401-023-02641-6. Epub 2023 Oct 11.

Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis

Merryl Terry  1 , Rohit Gupta  1 , Ajay Ravindranathan  1 , Jasper Wu  1 , Emily Chan  1 , Andrew W Bollen  1 , Susan M Chang  2 , Mitchel S Berger  2 , Line Jacques  3 , David A Solomon  4
Affiliations

Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis

Merryl Terry et al. Acta Neuropathol. 2023 Dec.
No abstract available

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Conflict of interest statement

D.A.S. is a member of the editorial board of Acta Neuropathologica but was not involved in the handling or decision making for this manuscript. The remaining authors declare that they have no competing interests related to this study.

Figures

Fig. 1
Fig. 1
Segmental schwannomatosis arising from somatic mosaic SOX10 indel mutations. a Clinicopathologic features of the two patients with segmental schwannomatosis arising due to somatic mosaic SOX10 indel mutations. b, c Imaging of the two patients showing multiple synchronous schwannomas along the left sciatic nerve of patient #1 and the left spinal accessory nerve of patient #2 at time of initial presentation. d, e Histologic features of the schwannomas arising in the setting of somatic mosaic SOX10 indel mutations. f, g Snapshots of the somatic mosaic SOX10 indel mutations present in the two patients from genomic profiling performed on multiple independent tumor samples and paired normal samples for each patient. VAF variant allele frequency
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