{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:57:37Z","timestamp":1790629057448,"version":"4.1.0"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2012,8,27]],"date-time":"2012-08-27T00:00:00Z","timestamp":1346025600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Harvard Medical School Center for Neurofibromatosis and Allied Disorders"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background.<\/jats:title>\n                    <jats:p>Schwannomatosis is a recently recognized form of neurofibromatosis characterized by multiple noncutaneous schwannomas, a histologically benign nerve sheath tumor. As more cases are identified, the reported phenotype continues to expand and evolve. We describe the spectrum of clinical findings in a cohort of patients meeting established criteria for schwannomatosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods.<\/jats:title>\n                    <jats:p>We retrospectively reviewed the clinical records of patients seen at our institution from 1995\u20132011 who fulfilled either research or clinical criteria for schwannomatosis. Clinical, radiographic, and pathologic data were extracted with attention to age at onset, location of tumors, ophthalmologic evaluation, family history, and other stigmata of neurofibromatosis 1 (NF1) or NF2.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results.<\/jats:title>\n                    <jats:p>Eighty-seven patients met the criteria for the study. The most common presentation was pain unassociated with a mass (46%). Seventy-seven of 87 (89%) patients had peripheral schwannomas, 49 of 66 (74%) had spinal schwannomas, seven of 77 (9%) had nonvestibular intracranial schwannomas, and four of 77 (5%) had intracranial meningiomas. Three patients were initially diagnosed with a malignant peripheral nerve sheath tumor; however, following pathologic review, the diagnoses were revised in all three cases. Chronic pain was the most common symptom (68%) and usually persisted despite aggressive surgical and medical management. Other common diagnoses included headaches, depression, and anxiety.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions.<\/jats:title>\n                    <jats:p>Peripheral and spinal schwannomas are common in schwannomatosis patients. Severe pain is difficult to treat in these patients and often associated with anxiety and depression. These findings support a proactive surveillance plan to identify tumors by magnetic resonance imaging scan in order to optimize surgical treatment and to treat associated pain, anxiety, and depression.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1634\/theoncologist.2012-0162","type":"journal-article","created":{"date-parts":[[2012,8,27]],"date-time":"2012-08-27T22:06:49Z","timestamp":1346105209000},"page":"1317-1322","source":"Crossref","is-referenced-by-count":196,"title":["Clinical Features of Schwannomatosis: A Retrospective Analysis of 87 Patients"],"prefix":"10.1093","volume":"17","author":[{"given":"Vanessa L.","family":"Merker","sequence":"first","affiliation":[{"name":"a Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA"},{"name":"b Cancer Center, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Esparza","sequence":"additional","affiliation":[{"name":"a Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA"},{"name":"b Cancer Center, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam J.","family":"Smith","sequence":"additional","affiliation":[{"name":"a Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anat","family":"Stemmer-Rachamimov","sequence":"additional","affiliation":[{"name":"c Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott R.","family":"Plotkin","sequence":"additional","affiliation":[{"name":"a Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA"},{"name":"b Cancer Center, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2012,8,27]]},"reference":[{"key":"2021122308121918100_B1","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1212\/WNL.46.4.1072","article-title":"Schwannomatosis: A clinical and pathologic study","volume":"46","author":"MacCollin","year":"1996","journal-title":"Neurology"},{"key":"2021122308121918100_B2","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1086\/301633","article-title":"Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis","volume":"61","author":"Jacoby","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2021122308121918100_B3","doi-asserted-by":"crossref","first-page":"1968","DOI":"10.1212\/01.WNL.0000070184.08740.E0","article-title":"Familial schwannomatosis: Exclusion of the NF2 locus as the germline event","volume":"60","author":"MacCollin","year":"2003","journal-title":"Neurology"},{"key":"2021122308121918100_B4","doi-asserted-by":"crossref","first-page":"1838","DOI":"10.1212\/01.WNL.0000163982.78900.AD","article-title":"Diagnostic criteria for schwannomatosis","volume":"64","author":"MacCollin","year":"2005","journal-title":"Neurology"},{"key":"2021122308121918100_B5","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1212\/01.wnl.0000201190.89751.41","article-title":"Increasing the specificity of diagnostic criteria for schwannomatosis","volume":"66","author":"Baser","year":"2006","journal-title":"Neurology"},{"key":"2021122308121918100_B6","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1212\/WNL.54.1.71","article-title":"Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas","volume":"54","author":"Antinheimo","year":"2000","journal-title":"Neurology"},{"key":"2021122308121918100_B7","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1136\/jmg.2008.060152","article-title":"Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1","volume":"46","author":"Swensen","year":"2009","journal-title":"J Med Genet"},{"key":"2021122308121918100_B8","doi-asserted-by":"crossref","first-page":"756","DOI":"10.3171\/2010.8.JNS091900","article-title":"Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: A surgical series with long-term follow-up. 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