OBJECT: The aim of this study was to provide disease-specific information about schwannomatosis in its different forms and to present 2 particular cases of malignant schwannomas in the context of familial schwannomatosis (FS). METHODS: The authors analyzed patients with pathologically defined schwannomas and identified those with varied forms of schwannomatosis. Each case was retrospectively analyzed for patient sex and age, number of operations and tumors excised, symptoms, location and size of tumors, extent of resection, nerve function pre- and postoperatively, complications, other nonsurgically treated tumors, malignancy, results of brain MR imaging, and follow-up data. RESULTS: One hundred fifty-eight patients underwent the excision of 216 schwannomas. One hundred forty-two patients presented with solitary schwannomas, 2 had neurofibromatosis Type 2 (NF2), and 14 presented with schwannomatosis. The average follow-up was 52 months. Six individuals had sporadic schwannomatosis, whereas 8 had the familial form of the disease. These 14 patients had an average age of 28.3 years at the time of disease onset (median 27.5 years) and 35.4 years at the time of the first operation (median 37 years) Thirteen of the 14 patients with schwannomatosis experienced pain as the first symptom. Eight (57%) of the 14 patients presented with at least 1 tumor in the spinal canal or attached to the spinal nerve roots. Malignant schwannomas developed in 2 patients from the same family during the follow-up. CONCLUSIONS: Patients suffering from schwannomatosis tend to be younger than those presenting with solitary schwannomas. Therefore, individuals presenting at a young age with multiple schwannomas but not meeting the criteria for NF2 should prompt the physician to suspect schwannomatosis. Patients with schwannomatosis who report pain should be exhaustively examined. The spine is affected in the majority of patients, and MR imaging of the spine should be part of the routine evaluation. Rapid enlargement of schwannomas in the context of FS should raise suspicion of malignant transformation.
OBJECT: The aim of this study was to provide disease-specific information about schwannomatosis in its different forms and to present 2 particular cases of malignant schwannomas in the context of familial schwannomatosis (FS). METHODS: The authors analyzed patients with pathologically defined schwannomas and identified those with varied forms of schwannomatosis. Each case was retrospectively analyzed for patient sex and age, number of operations and tumors excised, symptoms, location and size of tumors, extent of resection, nerve function pre- and postoperatively, complications, other nonsurgically treated tumors, malignancy, results of brain MR imaging, and follow-up data. RESULTS: One hundred fifty-eight patients underwent the excision of 216 schwannomas. One hundred forty-two patients presented with solitary schwannomas, 2 had neurofibromatosis Type 2 (NF2), and 14 presented with schwannomatosis. The average follow-up was 52 months. Six individuals had sporadic schwannomatosis, whereas 8 had the familial form of the disease. These 14 patients had an average age of 28.3 years at the time of disease onset (median 27.5 years) and 35.4 years at the time of the first operation (median 37 years) Thirteen of the 14 patients with schwannomatosis experienced pain as the first symptom. Eight (57%) of the 14 patients presented with at least 1 tumor in the spinal canal or attached to the spinal nerve roots. Malignant schwannomas developed in 2 patients from the same family during the follow-up. CONCLUSIONS:Patients suffering from schwannomatosis tend to be younger than those presenting with solitary schwannomas. Therefore, individuals presenting at a young age with multiple schwannomas but not meeting the criteria for NF2 should prompt the physician to suspect schwannomatosis. Patients with schwannomatosis who report pain should be exhaustively examined. The spine is affected in the majority of patients, and MR imaging of the spine should be part of the routine evaluation. Rapid enlargement of schwannomas in the context of FS should raise suspicion of malignant transformation.
Authors: Jodi M Carter; Carolyn O'Hara; George Dundas; Dawna Gilchrist; Mark S Collins; Katherine Eaton; Alexander R Judkins; Jaclyn A Biegel; Andrew L Folpe Journal: Am J Surg Pathol Date: 2012-01 Impact factor: 6.394
Authors: Scott R Plotkin; Jaishri O Blakeley; D Gareth Evans; C Oliver Hanemann; Theo J M Hulsebos; Kim Hunter-Schaedle; Ganjam V Kalpana; Bruce Korf; Ludwine Messiaen; Laura Papi; Nancy Ratner; Larry S Sherman; Miriam J Smith; Anat O Stemmer-Rachamimov; Jeremie Vitte; Marco Giovannini Journal: Am J Med Genet A Date: 2013-02-07 Impact factor: 2.802
Authors: Miriam J Smith; Andrew J Wallace; Naomi L Bowers; Cecilie F Rustad; C Geoff Woods; Guy D Leschziner; Rosalie E Ferner; D Gareth R Evans Journal: Neurogenetics Date: 2012-03-22 Impact factor: 2.660
Authors: Rosario Caltabiano; Gaetano Magro; Agata Polizzi; Andrea Domenico Praticò; Andrea Ortensi; Valerio D'Orazi; Andrea Panunzi; Pietro Milone; Luigi Maiolino; Francesco Nicita; Gabriele Lorenzo Capone; Roberta Sestini; Irene Paganini; Mariella Muglia; Sebastiano Cavallaro; Salvatore Lanzafame; Laura Papi; Martino Ruggieri Journal: Childs Nerv Syst Date: 2017-04-01 Impact factor: 1.475