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Status: Bibliographieeintrag

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Verfasst von:Kehrer-Sawatzki, Hildegard [VerfasserIn]   i
 Bendszus, Martin [VerfasserIn]   i
 Godel, Tim [VerfasserIn]   i
Titel:Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1
Verf.angabe:Hildegard Kehrer‐Sawatzki, Uwe Kordes, Simone Seiffert, Anna Summerer, Christian Hagel, Ulrich Schüller, Said Farschtschi, Reinhard Schneppenheim, Martin Bendszus, Tim Godel, Victor-Felix Mautner
E-Jahr:2018
Jahr:20 May 2018
Umfang:11 S.
Fussnoten:Gesehen am 11.12.2019
Titel Quelle:Enthalten in: Molecular genetics & genomic medicine
Ort Quelle:Chichester [u.a.] : Wiley, 2013
Jahr Quelle:2018
Band/Heft Quelle:6(2018), 4, Seite 627-637
ISSN Quelle:2324-9269
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) 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 caused by replication errors including template-switching. The patient had inherited the deletion from her 56-year-old healthy mother who did not exhibit schwannomas or other tumors as determined by whole-body MRI. However, MRN of the peripheral nerves of the mother's extremities revealed multiple fascicular microlesions which have been previously identified as indicative of schwannomatosis-associated subclinical peripheral nerve pathology. Conclusion: The occurrence of schwannomatosis-associated clinical symptoms independent of the AT/RT as the primary disease should be considered in long-term survivors of AT/RT. Furthermore, our investigations indicate that germline SMARCB1 mutation carriers not presenting RTs or schwannomatosis-associated clinical symptoms may nevertheless exhibit peripheral nerve pathology as revealed by MRN.
DOI:doi:10.1002/mgg3.412
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: https://doi.org/10.1002/mgg3.412
 Verlag: https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.412
 DOI: https://doi.org/10.1002/mgg3.412
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:atypical teratoid/rhabdoid tumor
 deletion breakpoint
 RTPS1
 schwannomatosis
 SMARCB1 gene
K10plus-PPN:1685119298
Verknüpfungen:→ Zeitschrift

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