Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas

Sushama Patil, Arie Perry, Mia MacCollin, Shumin Dong, Rebecca A. Betensky, Tu Hsueh Yeh, David H. Gutmann, Anat O. Stemmer-Rachamimov

研究成果: 雜誌貢獻文章

88 引文 (Scopus)

摘要

The INI1/SMARCB1 protein product (INI1), a component of a transcription complex, was recently implicated in the pathogenesis of schwannomas in two members of a single family with familial schwannomatosis. Tumors were found to have both constitutional and somatic mutations of the SMARCB1 gene and showed a mosaic pattern of loss of INI1 expression by immunohistochemistry, suggesting a tumor composition of mixed null and haploinsufficient cells. To determine if this finding could be extended to all tumors arising in familial schwannomatosis, and how it compares with other multiple schwannoma syndromes [sporadic schwannomatosis and neurofibromatosis 2 (NF2)] as well as to sporadic, solitary schwannomas, we performed an immunohistochemistry analysis on 45 schwannomas from patients with multiple schwannoma syndromes and on 38 solitary, sporadic schwannomas from non-syndromic patients. A mosaic pattern of INI1 expression was seen in 93% of tumors from familial schwannomatosis patients, 55% of tumors from sporadic schwannomatosis, 83% of NF2-associated tumors and only 5% of solitary, sporadic schwannomas. These results confirm a role for INI1/SMARCB1 in multiple schwannoma syndromes and suggest that a different pathway of tumorigenesis occurs in solitary, sporadic tumors.
原文英語
頁(從 - 到)517-519
頁數3
期刊Brain Pathology
18
發行號4
DOIs
出版狀態已發佈 - 十月 2008
對外發佈Yes

指紋

Neurilemmoma
Neoplasms
Neurofibromatosis 2
Immunohistochemistry
Null Lymphocytes
Carcinogenesis
Schwannomatosis
Mutation
Genes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neuroscience(all)
  • Clinical Neurology

引用此文

Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. / Patil, Sushama; Perry, Arie; MacCollin, Mia; Dong, Shumin; Betensky, Rebecca A.; Yeh, Tu Hsueh; Gutmann, David H.; Stemmer-Rachamimov, Anat O.

於: Brain Pathology, 卷 18, 編號 4, 10.2008, p. 517-519.

研究成果: 雜誌貢獻文章

Patil, Sushama ; Perry, Arie ; MacCollin, Mia ; Dong, Shumin ; Betensky, Rebecca A. ; Yeh, Tu Hsueh ; Gutmann, David H. ; Stemmer-Rachamimov, Anat O. / Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. 於: Brain Pathology. 2008 ; 卷 18, 編號 4. 頁 517-519.
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abstract = "The INI1/SMARCB1 protein product (INI1), a component of a transcription complex, was recently implicated in the pathogenesis of schwannomas in two members of a single family with familial schwannomatosis. Tumors were found to have both constitutional and somatic mutations of the SMARCB1 gene and showed a mosaic pattern of loss of INI1 expression by immunohistochemistry, suggesting a tumor composition of mixed null and haploinsufficient cells. To determine if this finding could be extended to all tumors arising in familial schwannomatosis, and how it compares with other multiple schwannoma syndromes [sporadic schwannomatosis and neurofibromatosis 2 (NF2)] as well as to sporadic, solitary schwannomas, we performed an immunohistochemistry analysis on 45 schwannomas from patients with multiple schwannoma syndromes and on 38 solitary, sporadic schwannomas from non-syndromic patients. A mosaic pattern of INI1 expression was seen in 93{\%} of tumors from familial schwannomatosis patients, 55{\%} of tumors from sporadic schwannomatosis, 83{\%} of NF2-associated tumors and only 5{\%} of solitary, sporadic schwannomas. These results confirm a role for INI1/SMARCB1 in multiple schwannoma syndromes and suggest that a different pathway of tumorigenesis occurs in solitary, sporadic tumors.",
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AU - Dong, Shumin

AU - Betensky, Rebecca A.

AU - Yeh, Tu Hsueh

AU - Gutmann, David H.

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AB - The INI1/SMARCB1 protein product (INI1), a component of a transcription complex, was recently implicated in the pathogenesis of schwannomas in two members of a single family with familial schwannomatosis. Tumors were found to have both constitutional and somatic mutations of the SMARCB1 gene and showed a mosaic pattern of loss of INI1 expression by immunohistochemistry, suggesting a tumor composition of mixed null and haploinsufficient cells. To determine if this finding could be extended to all tumors arising in familial schwannomatosis, and how it compares with other multiple schwannoma syndromes [sporadic schwannomatosis and neurofibromatosis 2 (NF2)] as well as to sporadic, solitary schwannomas, we performed an immunohistochemistry analysis on 45 schwannomas from patients with multiple schwannoma syndromes and on 38 solitary, sporadic schwannomas from non-syndromic patients. A mosaic pattern of INI1 expression was seen in 93% of tumors from familial schwannomatosis patients, 55% of tumors from sporadic schwannomatosis, 83% of NF2-associated tumors and only 5% of solitary, sporadic schwannomas. These results confirm a role for INI1/SMARCB1 in multiple schwannoma syndromes and suggest that a different pathway of tumorigenesis occurs in solitary, sporadic tumors.

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