Mutation analysis of tumors in ophthalmological area to to choose the treatment modalities---mutation analysis using paraffin specimens---

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Purpose : To evaluate the usefulness of gene mutation analysis and genotype analysis to diagnose tumors in ophthalmological area. The target genes are TGF-β and immunoglobulin light chain.Methods : [mutation analysis] Expression and mutations of TGF-β type II receptor (T β R2), Smad 4 (one of the signal transducers) were investigated. DNA was extracted from paraffin embedded specimens from 21 patients, which included malignant melanoma, sebaceous carcinoma, squamous cell carcinoma, basal cell carcinoma, pleomorphic adenocarcinoma, pleomorphic adenoma, solitary fibrous tumor, hemangioma and others. DNA fragments which encode some exons of TβR2 and Smad4 were amplified by polymerase chain reaction (PCR), and then single strand conformation polymorphism analysis (SSCP) was performed to detect mutations. [Expression of TβR2 and Smads] Expression was observed immunohistochemically in the paraffin sections. [immunoglobulin rearrangement] Three cases of lymphoproliferative lesions were treated at Yamagata University Hospital. The surgical biopsy specimens were examined histopathologically and Southern blot hybridization was used to detect immunoglobulin rearrangement as a genotype analysis.Results : Two out of 21 cases showed the band shift of TβR2 exon 6 and smad 4 exon 11a by SSCP. The expression of TβR2 was shown to decrease by immunohistochemically. In one case of lymphoproliferative tumors, rearrangement of immunoglobulin light chain gene. This case was shown to be malignant.Conclusions : This study suggests that the mutation in TGF-β related genes may be related to the tumorigenesis, however, may not be used to diagnose malignancy clinically. The rearrangement of immunoglobulin light chain gene is very useful to diagnose malignancy.