Journal ArticleDOI
Neurofibromatosis Type 2: Presentation, Major Complications, and Management, With a Focus on the Pediatric Age Group
TLDR
Patient enrolment in international natural history and treatment trials offers the best opportunity to accelerate the understanding of the complications and optimal treatment of NF2, with a view to improving outcomes for all affected individuals.Abstract:
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder (incidence 1:33 000-40 000) characterized by formation of central nervous system tumors, due to mutation in the NF2 gene on chromosome 22q12. Vestibular schwannomas are the hallmark lesion, affecting 95% of individuals and typically occur bilaterally. Schwannomas commonly occur on other nerves intracranially and in the spinal compartment, along with meningiomas, ependymomas, and gliomas. Although histologically benign, tumors are associated with significant morbidity due to multiple problems including hearing and vision loss, gait abnormalities, paralysis, pain, and seizures. Risk of early mortality from brainstem compression and other complications is significant. Severity of disease is higher when NF2 presents during childhood. Children have a more variable presentation, which can be associated with significant delays in recognition of the condition. Careful examination of the skin and eyes can identify important clinical signs of NF2 during childhood, allowing timely initiation of disease-specific surveillance and treatment. Monitoring for complications comprises clinical evaluation, along with functional testing including audiology and serial neuroimaging, which together inform decisions regarding treatment. Evidence for disease-specific medical treatment options is increasing, nevertheless most patients will benefit from multimodal treatment including surgery during their lifetime. Patient enrolment in international natural history and treatment trials offers the best opportunity to accelerate our understanding of the complications and optimal treatment of NF2, with a view to improving outcomes for all affected individuals.read more
Citations
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Journal ArticleDOI
Programmed death ligand 1 expression and tumor infiltrating lymphocytes in neurofibromatosis type 1 and 2 associated tumors
Shiyang Wang,Benjamin Liechty,Seema Patel,Jeffrey S. Weber,Travis J. Hollmann,Matija Snuderl,Matthias A. Karajannis +6 more
TL;DR: expression of PD–L1 on tumor cells and the presence of TILs suggest that these tumors might be responsive to immunotherapy with immune checkpoint inhibitors, which should be explored in clinical trials for NF patients.
Journal ArticleDOI
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas
Rosario Caltabiano,Gaetano Magro,Agata Polizzi,A.D. Praticò,Andrea Ortensi,D'Orazi,A. Panunzi,Pietro Milone,Luigi Maiolino,Francesco Nicita,Gabriele Lorenzo Capone,Roberta Sestini,Irene Paganini,M. Muglia,Sebastiano Cavallaro,Salvatore Lanzafame,Laura Papi,Martino Ruggieri +17 more
TL;DR: The present data suggests that mosaic loss of immunohistochemical INI1/SMARCB1 expression, despite the interlesional variability, is a reliable marker of schwannomatosis regardless of the involved gene.
Journal ArticleDOI
Postoperative Hearing Preservation in Patients Undergoing Retrosigmoid Craniotomy for Resection of Vestibular Schwannomas: A Systematic Review of 2034 Patients.
Komal Preet,Vera Ong,John P. Sheppard,Methma Udawatta,Courtney Duong,Prasanth Romiyo,Thien Nguyen,Isabelle Kwan,Isaac Yang +8 more
TL;DR: Tumor size may have an effect on hearing preservation rates, but multiple factors should be considered when deciding on VS treatment plans.
Journal ArticleDOI
Consequences of diagnosing a tumor predisposition syndrome in children with cancer: A literature review.
TL;DR: An overview of the cancer‐related and noncancer‐related consequences for the 36 most common TPSs is presented.
Journal ArticleDOI
Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design.
Claudia Riccardi,Claudia Riccardi,Lorena Perrone,Filomena Napolitano,Simone Sampaolo,Mariarosa A. B. Melone,Mariarosa A. B. Melone +6 more
TL;DR: An exhaustive and detailed analysis of the most relevant preclinical and clinical studies aimed at analyzing the correlation between vitamin D deficiency and NF1 lesion progression, thus providing important insights into disease pathogenesis and new opportunities for targeted therapy.
References
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Journal ArticleDOI
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
Guy A. Rouleau,P. Merel,Mohini Lutchman,Marc Sanson,Marc Sanson,Jessica Zucman,Claude Marineau,Khê Hoang-Xuan,S. Demczuk,Chantal Desmaze,Béatrice Plougastel,Stefan M. Pulst,Gilbert M. Lenoir,E. K. Bijlsma,Raimund Fashold,Jan P. Dumanski,Pieter J. de Jong,Dilys M. Parry,Roswell Eldrige,Alain Aurias,Olivier Delattre,Gilles Thomas +21 more
TL;DR: The deduced product has homology with proteins at the plasma membrane and cytoskeleton Interface, a previously unknown site of action of tumour suppressor genes in humans.
Journal Article
Neurofibromatosis. Conference statement, National Institute of Health development conference
Journal ArticleDOI
Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.
D G R Evans,E. Howard,E. Howard,C. Giblin,C. Giblin,Thomas E. Clancy,Thomas E. Clancy,H. Spencer,H. Spencer,Susan M Huson,Susan M Huson,Fiona Lalloo,Fiona Lalloo +12 more
TL;DR: Estimates for NF1, NF2, FAP, and VHL are in line with previous estimates, and the first estimates of birth incidence and de novo mutation rate for Gorlin syndrome are provided.
Journal ArticleDOI
A Clinical Study of Type 2 Neurofibromatosis
TL;DR: The clinical features, age at onset of symptoms and survival of 150 patients with type 2 neurofibromatosis were studied and there are marked inter-family differences in disease severity and tumour susceptibility.
Journal ArticleDOI
Neurofibromatosis type 2
Ashok R. Asthagiri,Dilys M. Parry,John A. Butman,H. Jeffrey Kim,Ekaterini Tsilou,Zhengping Zhuang,Russell R. Lonser +6 more
TL;DR: Optimum treatment is multidisciplinary because of the complexities associated with management of the multiple, progressive, and protean lesions associated with the disorder.