title: Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation.
abstract: Epithelioid malignant peripheral nerve sheath tumors arising in preexisting schwannomas are extremely rare. We report an unusual example occurring in a patient with multiple schwannomas (schwannomatosis), all but 1 of which showed "neuroblastoma-like" histology. By immunohistochemistry, both the epithelioid malignant peripheral nerve sheath tumor and the schwannomas showed a complete loss of the Smarcb1 protein. Subsequent genetic evaluation revealed the presence of a novel germline mutation in the SMARCB1/INI1 gene in the patient and in 3 of her children, 2 of whom were diagnosed with atypical teratoid/rhabdoid tumors of the brain.
authors.affiliation: Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Canada.
authors.forename: Jodi M
authors.initials: JM
authors.lastname: Carter
authors.forename: Carolyn
authors.initials: C
authors.lastname: O'Hara
authors.forename: George
authors.initials: G
authors.lastname: Dundas
authors.forename: Dawna
authors.initials: D
authors.lastname: Gilchrist
authors.forename: Mark S
authors.initials: MS
authors.lastname: Collins
authors.forename: Katherine
authors.initials: K
authors.lastname: Eaton
authors.forename: Alexander R
authors.initials: AR
authors.lastname: Judkins
authors.forename: Jaclyn A
authors.initials: JA
authors.lastname: Biegel
authors.forename: Andrew L
authors.initials: AL
authors.lastname: Folpe
mesh_terms: D000328:Adult; D002528:Cerebellar Neoplasms / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology; D018317:Nerve Sheath Neoplasms / Q000235:genetics* / Q000473:pathology; D009442:Neurilemmoma / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018335:Rhabdoid Tumor / Q000235:genetics / Q000473:pathology; D000071796:SMARCB1 Protein; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000473:pathology; D013724:Teratoma / Q000235:genetics / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors
references.citation: Pathol Int. 2000 Feb;50(2):156-61
references.pmid: 10792776
references.citation: Nat Med. 2010 Dec;16(12):1429-33
references.pmid: 21076395
references.citation: Clin Genet. 2010 Jan;77(1):86-91
references.pmid: 19912265
references.citation: J Med Genet. 2009 Jan;46(1):68-72
references.pmid: 19124645
references.citation: Clin Genet. 2008 Oct;74(4):358-66
references.pmid: 18647326
references.citation: Am J Hum Genet. 2007 Apr;80(4):805-10
references.pmid: 17357086
references.citation: Rev Neurol Dis. 2009 Summer;6(3):E81-6
references.pmid: 19898272
references.citation: Pediatr Blood Cancer. 2011 Jan;56(1):7-15
references.pmid: 21108436
references.citation: Am J Surg Pathol. 1994 Sep;18(9):882-95
references.pmid: 8067509
references.citation: Histopathology. 1996 Aug;29(2):189-92
references.pmid: 8872158
references.citation: Am J Surg Pathol. 2009 Apr;33(4):542-50
references.pmid: 19033866
references.citation: Cell Res. 2011 Mar;21(3):396-420
references.pmid: 21358755
references.citation: Pediatr Blood Cancer. 2006 Sep;47(3):279-84
references.pmid: 16261613
references.citation: J Med Genet. 2008 Jun;45(6):332-9
references.pmid: 18285426
references.citation: Brain Pathol. 2008 Oct;18(4):517-9
references.pmid: 18422762
references.citation: Neurology. 2005 Jun 14;64(11):1838-45
references.pmid: 15955931
references.citation: Pediatr Blood Cancer. 2011 Jul 1;56(7):1026-31
references.pmid: 20848638
references.citation: Am J Surg Pathol. 1994 Mar;18(3):266-73
references.pmid: 8116794
references.citation: J Neurosurg. 2011 Mar;114(3):756-62
references.pmid: 20932094
references.citation: Clin Cancer Res. 2009 Mar 15;15(6):1923-30
references.pmid: 19276269
references.citation: Neurology. 2006 Mar 14;66(5):730-2
references.pmid: 16534111
references.citation: Neurology. 1996 Apr;46(4):1072-9
references.pmid: 8780094
references.citation: Histopathology. 1990 Mar;16(3):295-7
references.pmid: 2332215
references.citation: Am J Surg Pathol. 1996 Nov;20(11):1412-7
references.pmid: 8898847
references.citation: Am J Surg Pathol. 2001 Jan;25(1):13-25
references.pmid: 11145248