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Purpose To evaluate the application of mismatch repair (MMR) genes proteins expression and methylationspecific to screen for Lynch syndrome patients.Methods 126 endometrial carcinoma patients were tested the protein expression of hMSH2,hMSH6h,hMLH1,hPMS2 by immunohistochemically of SP,and the methylation status of hMLH1 genes by the methylation-specific PCR.Results The result of MMR immunocytochemistry showed that 22％ (28/126) cases lacked MMR protein expression,including hMLH1-/hPMS2-in 12 cases,4 hMSH2-/hMSH6-,6 hPMS2-,3 hMLH6-and 3 hMLH1-.Meanwhile,the methylation-specific PCR test showed that 9 cases was methylation status of hMLH1 genes in 15 cases hMLH1-,and suggested the patients might be sporadic endometrial carcinoma.Conclusion Immunohistochemical of SP staining for MMR proteins in endometrial carcinoma patients,accompanied by testing for the methylation status of hMLH1 genes,may be an effective approach to screen for Lynch syndrome.
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Objective To investigate the expression of α-thalassemia/mental retardation syndrome X-linked (ATRX) in different central nervous system tumors and the meaningness in differential diagnosis. Methods Expression of ATRX protein was determined by immunohistochemistry in astrocytomas , oligodendrogliomas, glioblastomas, ependymomas and meningiomas. Results Positive expression levels of ATRX in astrocytomas were significantly lower than those in oligodendrogliomas,glioblastomas, ependymomas and meningiomas (all P <0.01). Conclusion The loss of ATRX was mainly occurred in astrocytomas, which could be as a astrocytoma marker in diagnosis.
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Objective To investigate the expression and significance of Insulin like growth factor-ⅡmRNA binding protein3 (IMP3) in gastrointestinal stromal tumors (GIST). Methods One hundred and fifteen cases of GIST were subjected to immunohistochemical staining for IMP3 (SP method) and ki67 (iVisionTM method ). The relationship between IMP3 expression with clinicopathologic parameters and Ki67 proliferation indexes were analyzed. In situ hybridization detection of IMP3 mRNA was performed in 20 cases of GIST positive. Results The expression rate of IMP3 was 56.2%(65/115) in GIST positive. A significant correlation can be found between IMP3 expression and tumor of infiltration , coagulative necrosis , metastasis , nuclear atypia , diameter , mitotic count , risk grade of NIH (P 0.05). There was positive correlation of IMP3 expression and Ki67 labeling indexes by Spearman analysis. Positive expression with IMP3 can be observed in 3 cases of recurrence.It may play important role in invasive and development and may be an important factor of prognosis in GIST.
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Background and purpose:Gastrointestinal stromal tumor(GIST) is the most common mesenchymal tumor of the digestive tract. The mutation status of c-kit and PDGFRA gene in GIST appear to be in correlation with gleveec therapy. However, the prognostic significance of c-kit and PDGFRA mutations in GIST is still controversial. We investigated the status and significance of c-kit and PDGFRA gene mutation in GIST. Methods: Mutation of c-kit (exon 9,11,13,17) and PDGFRA gene (exon 12,18) in 50 cases of GIST were examined by PCR amplification and direct sequencing. Results:Mutations of c-kit exon 11 were identified in 54% (27/50) of patients and were heterogeneous, including 16 cases of in-frame deletion,10 cases of point mutation and 1 case of the two type mutation. These mutations mostly were clustered in 550-560 "hot spots" code at the 5′ end of the exon 11.1 case with mutation was detected in 2 cases of CD117-negative GIST. There was significant relationship between mutations of c-kit exon 11 and the categories of cell type (P0.05), respectively. Conclusion:c-kit mutation was common in GIST and had relatively fixed tendency and mostly was detected in spindle-cell GIST.The presence of c-kit mutation is not a significant prognostic factor in GIST.