Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.

ABSTRACT:

Background

The clinical phenotype associated with germline SMARCB1 mutations has as yet not been fully documented. It is known that germline SMARCB1 mutations may cause rhabdoid tumor predisposition syndrome (RTPS1) or schwannomatosis. However, the co-occurrence of rhabdoid tumor and schwannomas in the same patient has not so far been reported.

Methods

We investigated a family with members harboring a germline SMARCB1 deletion by means of whole-body MRI as well as high-resolution microstructural magnetic resonance neurography (MRN). Breakpoint-spanning PCRs were performed to characterize the SMARCB1 deletion and its segregation in the family.

Results

The index patient of this family was in complete continuous remission for an atypical teratoid/rhabdoid tumor (AT/RT) t

SUBMITTER: Kehrer-Sawatzki H 

PROVIDER: S-EPMC6081224 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature