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. 2003 Oct;56(5):299-301.
doi: 10.1136/mp.56.5.299.

Molecular heterogeneity of meningioma with INI1 mutation

P Rieske  1 , M Zakrzewska, S Piaskowski, D Jaskólski, B Sikorska, W Papierz, K Zakrzewski, P P Liberski
Affiliations

Molecular heterogeneity of meningioma with INI1 mutation

P Rieske et al. Mol Pathol. 2003 Oct.

Abstract

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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Figures

Figure 1
Figure 1
Molecular mechanisms of INI1 mutation in the case of meningioma described here.
Figure 2
Figure 2
Cytosine insertion in codon 376 causes the appearance of double bands, starting from the point of mutation.
Figure 3
Figure 3
Western blotting analysis of several meningiomas. Anti–INI1 antibodies raised against the N–terminal end of the INI1 protein were used. Lanes 1–7, meningioma cases. Lane 5, meningioma with mutation, which produces a longer INI1 protein. Lane 8, molecular weight marker.
See this image and copyright information in PMC

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