Coffin-Siris Syndrome and SMARCB1 Mutation Presenting With Schwannomatosis: A Case Report and Literature Review.
| Autor: | Gallagher JE; Department of Medicine, University of South Florida Health Morsani College of Medicine, Tampa, USA., Saeed-Vafa D; Department of Pathology, Moffitt Cancer Center and Research Institute, Tampa, USA., Bui MM; Department of Pathology, Moffitt Cancer Center and Research Institute, Tampa, USA., Makanji R; Department of Diagnostic Imaging and Interventional Radiology, Moffitt Cancer Center and Research Institute, Tampa, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2024 Aug 20; Vol. 16 (8), pp. e67333. Date of Electronic Publication: 2024 Aug 20 (Print Publication: 2024). |
| DOI: | 10.7759/cureus.67333 |
| Abstrakt: | Coffin-Siris syndrome (CSS) is a rare genetic condition associated with mutations in genes responsible for the modulation of gene expression and chromatin remodeling. Patients with CSS commonly present with congenital anomalies, intellectual disabilities, and developmental delays. We describe a case of a 28-year-old woman with a confirmed diagnosis of CSS and SMARCB1 mutation who presents with multiple schwannomas and an intra-abdominal neurofibroma. The patient underwent embolization and resection of an enlarging, symptomatic schwannoma of her left medial upper arm. In detailing the patient's presentation, this case report underscores the association between SMARCB1 mutations, CSS, and tumorigenesis. Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Gallagher et al.) |
| Databáze: | MEDLINE |
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