Schwannomatosis: a Realm Reborn: year one.
Journal
Current opinion in oncology
ISSN: 1531-703X
Titre abrégé: Curr Opin Oncol
Pays: United States
ID NLM: 9007265
Informations de publication
Date de publication:
01 11 2023
01 11 2023
Historique:
medline:
1
11
2023
pubmed:
11
10
2023
entrez:
11
10
2023
Statut:
ppublish
Résumé
In 2022, an international consensus recommendation revised the nomenclature for neurofibromatosis type 2 ( NF2 ) and Schwannomatosis (SWN), now grouped under the umbrella term Schwannomatosis, and defined new diagnostic criteria. This review describes the molecular criteria for diagnosis of schwannomatosis and the subsequent diagnosis strategy, while setting out the most recent advances in our understanding of the natural history, pathology, molecular biology and treatment of schwannomatosis-associated tumors, including schwannomas, meningiomas and ependymomas. Somatic mutation screening should become a new standard for the diagnosis of NF2 -, LTZTR1 -, SMARCB1 - and 22q-schwannomatosis to discriminate those conditions. Constitutional events in NF2 -Schwannomatosis have a major influence on disease severity and justifiably motivate ongoing efforts on gene replacement therapy research. On the other hand, underlying mechanisms of disease severity and associated pain remain largely unknown in non- NF2 -SWN and independent of germline mutation. Research efforts therefore focus on pain relief in ongoing trials and the discovery of new molecular mechanisms underlying schwannoma tumorigenesis/pain/neuropathies.
Identifiants
pubmed: 37820090
doi: 10.1097/CCO.0000000000000994
pii: 00001622-202311000-00014
doi:
Types de publication
Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
550-557Informations de copyright
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.
Références
Plotkin SR, Messiaen L, Legius E, et al. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genet Med 2022; 24:1967–1977.
Best SR, Ahn J, Langmead S, et al. Voice and swallowing dysfunction in neurofibromatosis 2. Otolaryngol Head Neck Surg 2018; 158:505–510.
Naunheim MR, Plotkin SR, Franco RA, Song PC. Laryngeal manifestations of neurofibromatosis. Otolaryngol Head Neck Surg 2016; 154:494–497.
Legoupil S, Bessis D, Picard F, et al. Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study. Orphanet J Rare Dis 2022; 17:242.
Evans DG, Hartley CL, Smith PT, et al. Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing. Genet Med 2020; 22:53–59.
Chan-Pak-Choon F, Roca C, Chong AS, et al. SMARCA4-associated schwannomatosis. Acta Neuropathol 2023; 145:505–507.
Rivera B, Nadaf J, Fahiminiya S, et al. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis. J Clin Invest 2020; 130:1479–1490.
Nogué C, Chong AS, Grau E, et al. DGCR8 and the six hit, three-step model of schwannomatosis. Acta Neuropathol 2022; 143:115–117.
Perez-Becerril C, Wallace AJ, Schlecht H, et al. Screening of potential novel candidate genes in schwannomatosis patients. Hum Mutat 2022; 43:1368–1376.
Forde C, King AT, Rutherford SA, et al. Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution. Neuro Oncol 2021; 23:1113–1124.
Schulz A, Grafe P, Hagel C, et al. Neuropathies in the setting of neurofibromatosis tumor syndromes: complexities and opportunities. Exp Neurol 2018; 299 (Pt B):334–344.
Evans DG, Bowers NL, Tobi S, et al. Schwannomatosis: a genetic and epidemiological study. J Neurol Neurosurg Psychiatry 2018; 89:1215–1219.
Evans DG, Mostaccioli S, Pang D, et al. ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis. Eur J Hum Genet 2022; 30:812–817.
Debs P, Fayad LM, Romo CG, Ahlawat S. Whole body MRI with DWI in people with NF1 and Schwannomatosis: are qualitative and quantitative imaging features of peripheral lesions comparable to localized MRI? Eur J Radiol 2023; 162:110802.
Moualed D, Wong J, Thomas O, et al. Prevalence and natural history of schwannomas in neurofibromatosis type 2 ( NF2 ): the influence of pathogenic variants. Eur J Hum Genet 2022; 30:458–464.
Godel T, Bäumer P, Farschtschi S, et al. Long-term follow-up and histological correlation of peripheral nervous system alterations in neurofibromatosis type 2. Clin Neuroradiol 2022; 32:277–285.
Oyem PC, de Andrade EJ, Soni P, et al. Natural history and volumetric analysis of meningiomas in neurofibromatosis type 2. Neurosurg Focus 2022; 52:E5.
Harder A, Wesemann M, Hagel C, et al. Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients. Am J Surg Pathol 2012; 36:702–709.
Lenartowicz KA, Monie DD, Amrami KK, et al. Hybrid tumors with perineurioma components: a systematic review of the literature and illustrative case. Acta Neurochir (Wien) 2023; 165:935–945.
Groen JL, Moghadasi S, Spruijt L, et al. Neurofibromas in LZTR1 schwannomatosis. Clin Genet 2022; 101:571–572.
Louis DN, Perry A, Wesseling P, et al. The 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol 2021; 23:1231–1251.
Kresbach C, Dorostkar MM, Suwala AK, et al. Neurofibromatosis type 2 predisposes to ependymomas of various localization, histology, and molecular subtype. Acta Neuropathol 2021; 141:971–974.
Mullin RL, Smith R, Wood S, et al. Reliability of functional outcome measures in adults with neurofibromatosis 2. SAGE Open Med 2022; 10: 20503121221118996.
Wolters PL, Vranceanu AM, Thompson HL, et al. Current recommendations for patient-reported outcome measures assessing domains of quality of life in neurofibromatosis clinical trials. Neurology 2021; 97: (Suppl 1): S50–S63.
Li P, Zhao F, Zhang J, et al. Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution. J Neurosurg Spine 2016; 24:145–154.
Peyre M, Tran S, Parfait B, et al. Surgical management of peripheral nerve pathology in patients with neurofibromatosis Type 2. Neurosurgery 2023; 92:317–328.
Gugel I, Grimm F, Tatagiba M, et al. Management of neurofibromatosis type 2 and schwannomatosis associated peripheral and intraspinal schwannomas: influence of surgery, genetics, and localization. J Neurooncol 2022; 159:271–279.
Kalamarides M, Essayed W, Lejeune JP, et al. Spinal ependymomas in NF2 : a surgical disease? J Neurooncol 2018; 136:605–611.
North RY, Snyder R, Slopis JM, McCutcheon IE. Surgical treatment of common peroneal neuropathy in schwannomatosis: illustrative cases. J Neurosurg Case Lessons 2021; 1:CASE21176.
Miranda SP, Nguyen J, Gu BJ, et al. Allograft nerve repair to prevent sensorimotor loss after nerve sheath tumor resection. Neurosurg Focus Video 2023; 8:V16.
Tosi U, Maayan O, An A, et al. Stereotactic radiosurgery for vestibular schwannomas in neurofibromatosis type 2 patients: a systematic review and meta-analysis. J Neurooncol 2022; 156:431–441.
Mohammed N, Hung YC, Xu Z, et al. Neurofibromatosis type 2-associated meningiomas: an international multicenter study of outcomes after Gamma Knife stereotactic radiosurgery. J Neurosurg 2022; 136:109–114.
Bin-Alamer O, Faramand A, Alarifi NA, et al. Stereotactic radiosurgery for vestibular schwannoma in neurofibromatosis type 2: an international multicenter case series of response and malignant transformation risk. Neurosurgery 2023; 92:934–944.
Evans DG, Halliday D, Obholzer R, et al. Radiation treatment of benign tumors in NF2 -related-schwannomatosis: a national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression. Neurooncol Adv 2023; 5:vdad025.
Plotkin SR, Allen J, Dhall G, et al. Multicenter, prospective, phase 2 study of maintenance bevacizumab for children and adults with NF2 -related schwannomatosis and progressive vestibular schwannoma. Neuro Oncol 2023; noad066.
Karajannis MA, Mauguen A, Maloku E, et al. Phase 0 clinical trial of everolimus in patients with vestibular schwannoma or meningioma. Mol Cancer Ther 2021; 20:1584–1591.
Zhao F, Li SW, Zhang S, et al. Phase II trial of icotinib in adult patients with neurofibromatosis type 2 and progressive vestibular schwannoma. J Neurosurg 2022; 1–8. [Online ahead of print].
Chang LS, Oblinger JL, Smith AE, et al. Brigatinib causes tumor shrinkage in both NF2 -deficient meningioma and schwannoma through inhibition of multiple tyrosine kinases but not ALK. PLoS One 2021; 16:e0252048.
Dougherty MC, Shibata SB, Clark JJ, et al. Reduction of sporadic and neurofibromatosis type 2-associated vestibular schwannoma growth in vitro and in vivo after treatment with the c-Jun N-terminal kinase inhibitor AS602801. J Neurosurg 2023; 138:962–971.
Prabhakar S, Beauchamp RL, Cheah PS, et al. Gene replacement therapy in a schwannoma mouse model of neurofibromatosis type 2. Mol Ther Methods Clin Dev 2022; 26:169–180.
Mansouri S, Suppiah S, Mamatjan Y, et al. Epigenomic, genomic, and transcriptomic landscape of schwannomatosis. Acta Neuropathol 2021; 141:101–116.
Kukutla P, Ahmed SG, DuBreuil DM, et al. Transcriptomic signature of painful human neurofibromatosis type 2 schwannomas. Ann Clin Transl Neurol 2021; 8:1508–1514.
Ostrow KL, Donaldson KJ, Caterina MJ, et al. The secretomes of painful versus nonpainful human schwannomatosis tumor cells differentially influence sensory neuron gene expression and sensitivity. Sci Rep 2019; 9:13098.
Da JLW, Merker VL, Jordan JT, et al. Design of a randomized, placebo-controlled, phase 2 study evaluating the safety and efficacy of tanezumab for treatment of schwannomatosis-related pain. Contemp Clin Trials 2022; 121:106900.
Deng F, Evans DG, Smith MJ. Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population. Hum Mutat 2022; 43:919–927.
Bigenzahn JW, Collu GM, Kartnig F, et al. LZTR1 is a regulator of RAS ubiquitination and signaling. Science 2018; 362:1171–1177.
Ko A, Hasanain M, Oh YT, et al. LZTR1 mutation mediates oncogenesis through stabilization of EGFR and AXL. Cancer Discov 2023; 13:702–723.
Evans DG, Burghel GJ, Smith MJ. Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation. J Med Genet 2023; 60:838–841.
Halliday D, Emmanouil B, Pretorius P, et al. Genetic Severity Score predicts clinical phenotype in NF2 . J Med Genet 2017; 54:657–664.
Xue L, He W, Zhang Y, et al. Origins of biallelic inactivation of NF2 in neurofibromatosis type 2. Neuro Oncol 2022; 24:903–913.
Coy S, Rashid R, Stemmer-Rachamimov A, Santagata S. An update on the CNS manifestations of neurofibromatosis type 2. Acta Neuropathol 2020; 139:643–665.
Hennigan RF, Thomson CS, Stachowski K, et al. Merlin tumor suppressor function is regulated by PIP2-mediated dimerization. PLoS One 2023; 18:e0281876.
Chiasson-MacKenzie C, Vitte J, Liu CH, et al. Cellular mechanisms of heterogeneity in NF2 -mutant schwannoma. Nat Commun 2023; 14:1559.