Results 61 to 70 of about 2,776 (190)

Segmental Schwannomatosis of the Upper Extremity

, 2018
Schwannomatosis is characterized by the development of multiple schwannomas without evidence of vestibular tumors. Segmental schwannomatosis is defined as being limited to 1 limb or 5 or fewer contiguous segments of the spine.
Thomas W. Bauer, Lauren Wright, William H. Seitz   +2 more
core   +1 more source

What to know about schwannomatosis: a literature review

, 2021
Background Schwannomatosis is a relatively rare disorder and is related to neurofibromatosis type 2. Although there is clinical overlap between schwannomatosis and neurofibromatosis type 2, these diseases have to be regarded as separate entities due to ...
PLAZIER, Mark, PUT, Eric, DUYVENDAK, Wim, DONKERSLOOT, Peter, Wissels, Maarten, Schraepen, Cedric, BAMPS, Sven, Vanvolsem, Steven, Roosen, Gert   +8 more
core   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. [PDF]

PLoS ONE, 2012
Patients with neurofibromatosis 1 (NF1), NF2, and schwannomatosis are at risk for multiple nerve sheath tumors and premature mortality. Traditional magnetic resonance imaging (MRI) has limited ability to assess disease burden accurately.
Scott R Plotkin, Miriam A Bredella, Wenli Cai, Ara Kassarjian, Gordon J Harris, Sonia Esparza, Vanessa L Merker, Lance L Munn, Alona Muzikansky, Manor Askenazi, Rosa Nguyen, Ralph Wenzel, Victor F Mautner   +12 more
doaj   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 4, Page 257-269, June 2026.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Expanding the mutational spectrum of LZTR1 in schwannomatosis [PDF]

, 2015
Schwannomatosis is characterized by the development of multiple non-vestibular, non-intradermal schwannomas. Constitutional inactivating variants in two genes, SMARCB1 and, very recently, LZTR1, have been reported.
Laura Papi, Chang, Vivian Y, Capone, Gabriele L., Benelli, Matteo, Marco Giovannini, Vitte, Jeremie, Trevisson, Eva, Nelson, Stanley F., Irene Paganini, Paganini, Irene, Papi, Laura, Gabriele L Capone, Hulsebos, Theo Jm, Vivian Y Chang, Giovannini, Marco, Capone, Gabriele L, Lorenzo Barbetti, Nelson, Stanley F, Jeremie Vitte, Chang, Vivian Y., Theo JM Hulsebos, Matteo Benelli, Stanley F Nelson, Barbetti, Lorenzo, Sestini, Roberta, Eva Trevisson, Roberta Sestini   +26 more
core   +2 more sources

Segmental schwannomatosis: characteristics in 12 patients

Orphanet Journal of Rare Diseases, 2019
Background Segmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its characteristics are not well described in the literature.
Abdulqader Alaidarous, Beatrice Parfait, Salah Ferkal, Joëlle Cohen, Pierre Wolkenstein, Juliette Mazereeuw-Hautier   +5 more
doaj   +1 more source

Pediatric spinal ependymomas: Long‐term surgical outcomes in a cohort of 61 cases

Pediatric Investigation, Volume 10, Issue 3, Page 240-248, June 2026.
Spinal ependymomas are rare in children, with limited long‐term outcome data. In this retrospective study of 61 pediatric patients undergoing surgical resection, gross total resection was achieved in 62.3% and was associated with favorable functional improvement. Recurrence was observed in 31.1% of cases.
Liang Zhang, Xingyu Liu, Bo Han, Wenqing Jia   +3 more
wiley   +1 more source

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

, 2014
Mutations in the SMARCB1 gene are involved in several human tumor-predisposing syndromes. They were established as an underlying cause of the tumor suppressor syndrome schwannomatosis in 2008. There is a much higher rate of mutation detection in familial
Evans, D. Gareth R; id_orcid, Smith, Miriam J.; id_orcid, Wallace, Andrew J., Bowers, Naomi L., Eaton, Helen   +4 more
core   +1 more source

Low back pain with axillary mass in a perimenopausal woman: A case of schwannomatosis mimicking metastasis

Radiology Case Reports
Schwannomatosis is a rare neurocutaneous syndrome characterized by the presence of multiple schwannomas along the peripheral nerves, distinctly excluding the vestibular nerves.
Abhikanta Khatiwada, Sharada K C, Aashish Bastakoti, Bibek Koirala, Aalok Kumar Yadav   +4 more
doaj   +1 more source