Diagnostic criteria for schwannomatosis

MacCollin, Mia; Chiocca, E. Antonio; Evans, D. Gareth; Friedman, Jan M.; Horvitz, R.; Jaramillo, Diego; Lev, Michael H.; Mautner, Victor; Niimura, Michihito; Plotkin, Scott R.; Sang, Christine N.; Stemmer‐Rachamimov, Anat; Roach, E. Steve

doi:10.1212/01.wnl.0000163982.78900.ad

Cited by 371 publications

(307 citation statements)

References 35 publications

(47 reference statements)

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“…Such patients should be followed up clinically as if they have NF2 until a definite diagnosis can be established. Some patients initially classified as having possible NF2 may subsequently be reclassified as having definite NF2 or mosaic NF2; others may be reclassified as having a different condition such as schwannomatosis 9 or multiple meningiomas. 10 In our analysis, we only considered individuals who definitely have NF2 or who definitely do not have NF2.…”

Section: Discussionmentioning

confidence: 99%

“…1,2,25-27 Molecular testing for NF2 mutations has become clinically available, 1,2,26,28,29 and somatic mosaicism has been found to occur in 25-30% of de novo NF2 patients. 11,12 Schwannomatosis has been defined as a distinct clinical entity, 9 excluded from the NF2 locus, 30 and shown to be related to mutations of the SMARCB1 locus in some patients. [31][32][33][34] Most importantly, we have begun to understand the molecular pathogenesis of NF2, 1,[35][36][37] and this is permitting the development of novel therapeutic initiatives.…”

Section: Discussionmentioning

confidence: 99%

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Empirical development of improved diagnostic criteria for neurofibromatosis 2

Baser¹,

Friedman

Joe

et al. 2011

Genetics in Medicine

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Empirical development of improved diagnostic criteria for neurofibromatosis 2

Baser¹,

Friedman

Joe

et al. 2011

Genetics in Medicine

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“…In NF2, loss of one NF2 allele is hereditary, with the loss of the second, wild-type allele occurring as a somatic mutation. Other hereditary syndromes in which patients develop multiple schwannomas include schwannomatosis, of unidentified genetic etiology, 5 and Carney's complex caused by loss of the tumor suppressor gene encoding the R1 alpha regulatory subunit of protein kinase A. 6 Schwannomas may also occur in the absence of a hereditary syndrome owing to a localized somatic cell mutation of the NF2 gene.…”

Section: Introductionmentioning

confidence: 99%

Treatment of Implantable NF2 Schwannoma Tumor Models with Oncolytic Herpes Simplex Virus G47Δ

et al. 2007

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Schwannomas are benign tumors composed of dedifferentiated Schwann cells that form along peripheral nerves causing nerve compression often associated with pain and loss of function. Current surgical therapy involves total or subtotal surgical removal of the tumor, which may cause permanent nerve damage. In the present study, we explore an alternate means of therapy in which schwannomas are injected with a replication-conditional herpes simplex virus (HSV) vector to shrink the tumor through cell lysis during virus propagation. The oncolytic vector used, G47D, has deletions in HSV genes, which allow it to replicate selectively in dividing cells, sparing neurons. Two schwannoma cell lines were used to generate subcutaneous tumors in nude mice: HEI193, an immortalized human line previously established from an NF2 patient and NF2S-1, a newly generated spontaneous mouse line. Subcutaneous HEI193 tumors grew about ten times as fast as NF2S-1 tumors, and both regressed substantially following injection of G47D. Complete regression of HEI193 tumors was achieved in most animals, whereas all NF2S-1 tumors resumed growth within 2 weeks after vector injection. These studies provide a new schwannoma model for testing therapeutic strategies and demonstrate that oncolytic HSV vectors can be successfully used to shrink growing schwannomas.

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“…[5][6][7] They can develop occasionally in the setting of type 2 neurofibromatosis. 7,8 In our case report no familial or personal history of neurofibromatosis was found.…”

Section: Discussionmentioning

confidence: 42%

Primary neurofibroma of the common bile duct: a case report

Béchade

Boulanger

Palazzo³

et al. 2009

Gastroenterol Insights

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Obstructive jaundice secondary to common bile duct stricture is attributed most commonly to pancreatic cancer and cholangiocarcinoma. Benign tumors of the extrahepatic biliary duct such as papilloma or adenoma are rare, accounting for 6% of biliary tumors.1,2 Among them, neurofibromas of the extrahepatic biliary tract are extremely rare and clinically nonspecific. Their preoperative diagnosis is most difficult, especially when there is no history of cholecystectomy or biliary tract trauma.3,4 We report a case of such a lesion in a young female patient. Case ReportA 28-year-old female patient was referred for upper abdominal pain and fever (38.5°C) that had been evolving over eight days. She had no family history of a hereditary disorder, nor personal previous history of cholecystectomy or trauma of the bile duct. The physical examination was normal, except for tenderness in the right hypochondrium. There was no evidence of jaundice. The laboratory studies revealed: serum alanine aminotransferase (ALAT), 54Abdominal ultrasonography showed mild hepatomegaly and slight dilatation of the intrahepatic biliary tracts, which seemed to be secondary to adenopathies of the hepatic hilum measuring 15.8 mm and 12.9 mm. Abdominal computed axial tomography (CT) (Figure 1) showed a well-demarcated, homogeneous and hypodense mass (20-35 UH) on unenhanced scans, with no enhancement after injection of the contrast medium. The mass surrounded the entire common bile duct and invaded the hepatic hilum, without any dilatation of the intrahepatic biliary tracts and without adenopathy. Abdominal magnetic resonance imaging (MRI) (Figure 2) showed a tissue mass with very clear borders, infiltrating the hepatic hilum. This mass was pushing the common bile duct back, sheathing the right and particularly the left portal pedicles as well as the bile duct, with no dilatation of the intrahepatic bile ducts and no mass effect on the blood vessels. This lesion had low signal intensity on T1-weighted images with moderate and heterogeneous signal intensity on T2-weighted images: it seemed to contain more hyperintense lesions on T2-weighted images. The contrast-enhanced T1-weighted images showed no enhancement. The endoscopic ultrasound (Figure 3) revealed multiple, oval, coalescent masses at the hepatic pedicle, particularly in front of and behind the portal vein; the largest of these masses had an axis of 3 cm. No fine needle aspiration was carried out on these lesions.Evolution of pain and fever was spontaneously favorable without any treatment, especially antibiotics. There was no explanation of the fever after physical and laboratory examinations. The endoscopic ultrasound ruled out any stones in the gall bladder and common bile duct, which could explain such a high fever. Endoscopic retrograde cholangiography was not performed.Assuming that a low-grade lymphoma, sarcoidosis, an inflammatory pseudotumor of the ganglion, or ganglionic tuberculosis was involved, we performed a surgical biopsy under laparoscopy and finally diagnosed a pri...

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Diagnostic criteria for schwannomatosis

Cited by 371 publications

References 35 publications

Empirical development of improved diagnostic criteria for neurofibromatosis 2

Empirical development of improved diagnostic criteria for neurofibromatosis 2

Treatment of Implantable NF2 Schwannoma Tumor Models with Oncolytic Herpes Simplex Virus G47Δ

Primary neurofibroma of the common bile duct: a case report

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