Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1

Molecular Genetics & Genomic Medicine
Hildegard Kehrer-SawatzkiVictor-Felix Mautner

Abstract

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. 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. The index patient of this family was in complete continuous remission for an atypical teratoid/rhabdoid tumor (AT/RT) treated at the age of 2 years. However, at the age of 21 years, she exhibited paraparesis of her legs and MRI investigations revealed multiple intrathoracic and spinal schwannomas. Breakpoint-spanning PCRs indicated that the germline deletion segregating in the family encompasses 6.4-kb and includes parts of SMARCB1 intron 7, exons 8-9 and 3.3-kb located telomeric to exon 9 including the SMARCB1 3' UTR. The analysis of sequences at the deletion breakpoints showed that the deletion has been ca...Continue Reading

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Citations

Aug 20, 2019·Current Opinion in Oncology·Dorothy HallidayD Gareth Evans
Nov 11, 2019·Virchows Archiv : an International Journal of Pathology·Anders Meyer, Steven D Billings

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Methods Mentioned

BETA
PCR
PCRs

Software Mentioned

Affymetrix Chromosome Analysis Suite ( ChAS )
CytoScan

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