P Rieske, M Zakrzewska, S Piaskowski, D Jaskólski, B Sikorska, W Papierz, K Zakrzewski, P P Liberski
{"title":"INI1突变脑膜瘤的分子异质性。","authors":"P Rieske, M Zakrzewska, S Piaskowski, D Jaskólski, B Sikorska, W Papierz, K Zakrzewski, P P Liberski","doi":"10.1136/mp.56.5.299","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>INI1 (hSNF5) mutations are linked to rhabdoid tumours, but mutations in meningiomas with hot spot mutations in position 377 have also been reported.</p><p><strong>Aims: </strong>To analyse the INI1 gene in meningioma.</p><p><strong>Methods: </strong>Exons 1, 4, 5, and 9 of the INI1 gene were analysed by the polymerase chain reaction and direct sequencing in 80 meningiomas. For all cases, western blotting of the INI1 protein was performed.</p><p><strong>Results: </strong>Only one of the 80 samples showed a cytosine insertion in codon 376. This mutation changed the open reading frame in almost the whole exon 9 and resulted in a longer hSNF5 protein. Complex analysis of the above described tumour sample by western blotting, DNA sequencing, and loss of heterozygosity (LOH) analysis showed that this particular meningioma consisted of heterogeneic cellular components. One of these components had a mutated INI1 gene, whereas in the other component INI1 was intact.</p><p><strong>Conclusions: </strong>INI1 mutation is a rare event in the molecular pathology of meningiomas. It is possible for the INI1 gene to be mutated in only a proportion of meningioma cells.</p>","PeriodicalId":79512,"journal":{"name":"Molecular pathology : MP","volume":"56 5","pages":"299-301"},"PeriodicalIF":0.0000,"publicationDate":"2003-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1136/mp.56.5.299","citationCount":"29","resultStr":"{\"title\":\"Molecular heterogeneity of meningioma with INI1 mutation.\",\"authors\":\"P Rieske, M Zakrzewska, S Piaskowski, D Jaskólski, B Sikorska, W Papierz, K Zakrzewski, P P Liberski\",\"doi\":\"10.1136/mp.56.5.299\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>INI1 (hSNF5) mutations are linked to rhabdoid tumours, but mutations in meningiomas with hot spot mutations in position 377 have also been reported.</p><p><strong>Aims: </strong>To analyse the INI1 gene in meningioma.</p><p><strong>Methods: </strong>Exons 1, 4, 5, and 9 of the INI1 gene were analysed by the polymerase chain reaction and direct sequencing in 80 meningiomas. For all cases, western blotting of the INI1 protein was performed.</p><p><strong>Results: </strong>Only one of the 80 samples showed a cytosine insertion in codon 376. This mutation changed the open reading frame in almost the whole exon 9 and resulted in a longer hSNF5 protein. Complex analysis of the above described tumour sample by western blotting, DNA sequencing, and loss of heterozygosity (LOH) analysis showed that this particular meningioma consisted of heterogeneic cellular components. One of these components had a mutated INI1 gene, whereas in the other component INI1 was intact.</p><p><strong>Conclusions: </strong>INI1 mutation is a rare event in the molecular pathology of meningiomas. It is possible for the INI1 gene to be mutated in only a proportion of meningioma cells.</p>\",\"PeriodicalId\":79512,\"journal\":{\"name\":\"Molecular pathology : MP\",\"volume\":\"56 5\",\"pages\":\"299-301\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2003-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1136/mp.56.5.299\",\"citationCount\":\"29\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular pathology : MP\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1136/mp.56.5.299\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular pathology : MP","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/mp.56.5.299","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Molecular heterogeneity of meningioma with INI1 mutation.
Background: INI1 (hSNF5) mutations are linked to rhabdoid tumours, but mutations in meningiomas with hot spot mutations in position 377 have also been reported.
Aims: To analyse the INI1 gene in meningioma.
Methods: Exons 1, 4, 5, and 9 of the INI1 gene were analysed by the polymerase chain reaction and direct sequencing in 80 meningiomas. For all cases, western blotting of the INI1 protein was performed.
Results: Only one of the 80 samples showed a cytosine insertion in codon 376. This mutation changed the open reading frame in almost the whole exon 9 and resulted in a longer hSNF5 protein. Complex analysis of the above described tumour sample by western blotting, DNA sequencing, and loss of heterozygosity (LOH) analysis showed that this particular meningioma consisted of heterogeneic cellular components. One of these components had a mutated INI1 gene, whereas in the other component INI1 was intact.
Conclusions: INI1 mutation is a rare event in the molecular pathology of meningiomas. It is possible for the INI1 gene to be mutated in only a proportion of meningioma cells.
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