Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

Smith, Miriam J.; Kulkarni, Anjana; Rustad, Cecilie F.; Bowers, Naomi L.; Wallace, Andrew; Holder, Susan; Heiberg, Arvid; Ramsden, R. T.; Evans, D. Gareth

doi:10.1002/ajmg.a.34376

Cited by 53 publications

(46 citation statements)

References 11 publications

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“…Some researchers believe that unilateral vestibular schwannoma should not be an exclusion criterion for the clinical diagnosis of schwannomatosis. 35 However, patients with suspicious sporadic schwannomatosis with unilateral vestibular schwannoma should be cautioned about the possibility of having NF2. In fact, according to Manchester diagnostic criteria, 4 patients with unilateral vestibular schwannoma and 2 or more other schwannomas can be diagnosed as NF2.…”

Section: Discussionmentioning

confidence: 99%

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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

Zhao

Zhang

et al. 2016

SPI

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OBJECT The aim of this study was to evaluate the clinical features of spinal schwannomas in patients with schwannomatosis and compare them with a large cohort of patients with solitary schwannomas and neurofibromatosis Type 2 (NF2). METHODS The study was a retrospective review of 831 patients with solitary schwannomas, 65 with schwannomatosis, and 102 with NF2. The clinical, radiographic, and pathological data were extracted with specific attention to the age at onset, location of tumors, initial symptoms, family history, and treatment outcome. RESULTS The male-to-female ratio of patients with schwannomatosis (72.3% vs 27.7%) was significantly higher than that of patients with solitary schwannomas (53.3% vs 46.7%) and NF2 (54.0% vs 46.0%), respectively (chi-square test, p = 0.012). The mean age at the first spinal schwannoma operation of patients with NF2 (24.7 ± 10.2 years) was significantly younger than that of patients with solitary schwannomas (44.8 ± 13.2 years) and schwannomatosis (44.4 ± 14.1 years; 1-way ANOVA, p < 0.001). The initial symptoms were similar among the 3 groups, with pain being the most common. The distribution of spinal tumors among the 3 groups was significantly different. The peak locations of spinal schwannomas in patients with solitary schwannomas were at C1–3 and T12–L3; in schwannomatosis, the peak location was at T12-L5. A preferred spinal location was not evident for intradural-extramedullary tumors in NF2. Only a slight prominence in the lumbar area could be observed. The patients in the 3 groups obtained similar benefits from the operation; the recovery rates in the patients with solitary schwannomas, NF2, and schwannomatosis were 50.1%, 38.0%, and 53.9%, respectively. The prognosis varied among spinal schwannomas in the patients with schwannomatosis. Up until the last date of follow-up, most patients with schwannomatosis (81.5%) had undergone a single spinal operation, but 12 patients (18.5%) had undergone multiple spinal operations. Patients with nonsegmental schwannomatosis or those with early onset disease seemed to have a poor prognosis; they were more likely to undergo multiple spinal operations. Small cauda equina nodules were common in patients with schwannomatosis (46.7%) and NF2 (86.9%); these small schwannomas appeared to have relatively static behavior. Two patients suspicious for schwannomatosis were diagnosed with NF2 with the detection of constitutional NF2 mutations; 1 had unilateral vestibular schwannoma, and the other had suspicious bilateral trigeminal schwannomas. CONCLUSIONS The clinical features of spinal schwannomas vary among patients with solitary schwannomas, NF2, and schwannomatosis. Spinal schwannomas of patients with NF2 appear to be more aggressive than those in patients with solitary schwannomas and schwannomatosis. Spinal schwannomas of schwannomatosis predominate in the lumbar area, and most of them can be treated successfully with surgery. The prognosis varies among spinal schwannomas of schwannomatosis; some patients may need multiple operations due to newly developed schwannomas. Sometimes, it is difficult to differentiate schwannomatosis from NF2 based on clinical manifestations. It is prudent to perform close follow-up examinations in patients with undetermined schwannomatosis and their offspring.

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Section: Discussionmentioning

confidence: 99%

“…Unlike neurofibromatosis Type 2 (NF2), vestibular schwannomas and other types of tumors are rarely observed in schwannomatosis. 35 Schwannomatosis has only been recognized for the past 2 decades. Its annual incidence is reported to be 0.58 cases per 1,000,000 persons.…”

mentioning

confidence: 99%

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

Zhao

Zhang

et al. 2016

SPI

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“…In no one instance, out of the numerous specimens examined, was there any trace discovered of nerve-tubes, or any indication whatever of the presence of any of the structures considered by modern pathologists as characteristic of malignant disease [80].…”

Section: Robert William Smith and His Timesmentioning

confidence: 94%

“…5), moveable and of firm consistence. Many of similar masses were present in different parts of the body [47,80]. At the post-mortem examination, thousands of neuromata were disclosed.…”

Section: Type 2 Segmental Manifestations Of Neurofibromatosis or Of Smentioning

confidence: 99%

“…cutaneous schwannomas vs. neurofibromas) holds true better for NF2 rather than for schwannomatosis. However, even though cutaneous schwannomas are well-recognised stigmata of NF2 [20,69], these are (increasingly) recognised as additional features of some atypical (but genetically proven) cases of schwannomatosis [4,59,80]. In addition to that, if the left sciatic nerve tumour is regarded as a plexiform schwannoma, we must consider that these tumours have been also noted in non-NF2 patients with multiple schwannomas (i.e.…”

Section: Robert William Smith and His Timesmentioning

confidence: 99%

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Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms

et al. 2016

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CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

Widemann

Acosta²,

Ammoun

et al. 2014

American J of Med Genetics Pt A

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The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known tumor suppressor genes (NF1 and NF2, respectively). For schwannomatosis, although mutations in SMARCB1 were identified in a subpopulation of schwannomatosis patients, additional causative gene mutations are still to be discovered. Individuals with NF1 may demonstrate manifestations in multiple organ systems, including tumors of the nervous system, learning disabilities, and physical disfigurement. NF2 ultimately can cause deafness, cranial nerve deficits, and additional severe morbidities caused by tumors of the nervous system. Unmanageable pain is a key finding in patients with schwannomatosis. Although today there is no marketed treatment for NF-related tumors, a significant number of clinical trials have become available. In addition, significant preclinical efforts have led to a more rational selection of potential drug candidates for NF trials. An important element in fueling this progress is the sharing of knowledge. For over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share novel findings, ideas, and build collaborations. The 2012 NF Conference held in New Orleans hosted over 350 NF researchers and clinicians. This article provides a synthesis of the highlights presented at the conference and as such, is a “state-of-the-field” for NF research in 2012.

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Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

Cited by 53 publications

References 11 publications

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

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

Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

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