Screening of potential novel candidate genes in schwannomatosis patients
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24424
Abstract: Schwannomatosis comprises a group of hereditary tumor predisposition syndromes characterized by, usually benign, multiple nerve sheath tumors, which frequently cause severe pain that does not typically respond to drug treatments. The most common schwannomatosis‐associated gene… read more here.
Keywords: genes schwannomatosis; candidate genes; screening potential; schwannomatosis patients ... See more keywords
Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of clinical laboratory analysis"
DOI: 10.1002/jcla.24448
Abstract: BACKGROUND Schwannomatosis is the third subtype of neurofibromatosis. Schwannomatosis, particularly the familial variant, is uncommon. Recently, germline mutations of the SMARCB1 gene have been found to cause schwannomatosis. In this report, we describe a case of… read more here.
Keywords: smarcb1 gene; intraspinal schwannomatosis; case; gene ... See more keywords
Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.412
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… read more here.
Keywords: rhabdoid tumor; tumor predisposition; schwannomatosis; predisposition syndrome ... See more keywords
Coexistence of schwannomatosis and glioblastoma in two families.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103680
Abstract: Schwannomatosis is a rare affection predisposing to multiple peripheral neurologic tumors development. Approximatively, one third of patients with schwannomatosis are carriers of a germline mutation in LZTR1 (Leucin Zipper Transcription Regulator 1). Tumorigenesis in schwannomatosis… read more here.
Keywords: schwannomatosis; two families; coexistence schwannomatosis; age ... See more keywords
Malignant Peripheral Nerve Sheath Tumor Arising in Schwannomatosis with Multiple Lung Metastases.
Sign Up to like & getrecommendations! Published in 2018 at "World neurosurgery"
DOI: 10.1016/j.wneu.2018.08.087
Abstract: BACKGROUND Malignant peripheral nerve sheath tumor (MPNST) is a kind of rare neurogenic malignancy, which usually arises from nerve fibers in any tissue and organ that have nerve fiber distributions, especially the trunk and extremities,… read more here.
Keywords: schwannomatosis; malignant peripheral; nerve sheath; nerve ... See more keywords
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
Sign Up to like & getrecommendations! Published in 2018 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noy009
Abstract: Background Clinical overlap between neurofibromatosis type 2 (NF2), schwannomatosis, and meningiomatosis can make clinical diagnosis difficult. Hence, molecular investigation of germline and tumor tissues may improve the diagnosis. Methods We present the targeted next-generation sequencing… read more here.
Keywords: targeted next; schwannomatosis; diagnosis; schwannomatosis meningiomatosis ... See more keywords
Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2‐related schwannomatosis
Sign Up to like & getrecommendations! Published in 2023 at "Clinical Genetics"
DOI: 10.1111/cge.14310
Abstract: Genetic testing and management of individuals at risk for NF2‐related schwannomatosis is complicated by the high rate of mosaicism resulting in a milder, later onset, more asymmetrical disease and the phenotypic overlap with the related… read more here.
Keywords: risk nf2; related schwannomatosis; genetic testing; nf2 related ... See more keywords
[18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis
Sign Up to like & getrecommendations! Published in 2021 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-021-01680-0
Abstract: Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain. The diagnosis requires the presence of several schwannomas and whole-body [18F] FDG-PET/MRI might help… read more here.
Keywords: pet mri; schwannomatosis; 18f fdg; fdg pet ... See more keywords