- Alterations of 9p21-22 Region Encoding Genes in Primary Glioblastomas.
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Hong Jik Doh, Seong Il Suh, Dong Won Kim, Il Man Kim, Man Bin Yim, Eun Ik Son, Kun Young Kwon, Sang Sook Lee, Sang Pyo Kim
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Korean J Pathol. 2002;36(6):394-399.
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 Abstract
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- BACKGROUND
Glioblastomas are one of the most common and aggressive malignant glial tumors occuring in the central nervous system. This study analyzed the status of p15INK4b, p14ARF, p16INK4a, MTAP, IFNA, and IFNB genes in 36 primary glioblastomas to investigate whether the inactivation of these genes participate in primary glioblastoma tumorigenesis.
METHODS
We used polymerase chain reaction, polymerase chain reaction/single strand conformational polymorphism (PCR/SSCP) analysis, and methylation-specific PCR.
RESULTS
Homozygous deletions at the p16INK4a gene were detected in 11 cases (30.5%) of 36 primary glioblastomas, and the promoter hypermethylation was found in 3 cases (8.3%) of 36 primary glioblastomas. In mutational analysis for the p16INK4a gene by PCR/SSCP, there was no abnormal mobility-shifted band in 36 cases of primary glioblastomas.
The overall frequency of p16INK4a alterations including homozygous deletion and promoter hypermethylation in 36 primary glioblastomas was 38.8% (14 of 36). Deletions of p15INK4b were noted in 4 cases (11.1%), whereas deletions of the p14ARF and MTAP genes were detected in 1 case of 36 cases of primary glioblastomas. But deletions of the INFA and B genes were not found.
CONCLUSIONS
These results suggest that alterations of the p16INK4a gene can be important mechanisms of the tumorigenesis of primary glioblastomas, and the p16INK4a gene is inactivated by mechanisms including homozygous deletion and promoter hypermethylation.
- Metastatic Alveolar Soft Part Sarcoma Presented with a Dura Mass: A Case Report.
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Sun Young Kwon, Hyun Chang Joo, Kun Young Kwon, Sang Sook Lee, Chul Ho Sohn, Man Bin Yim, Sang Pyo Kim
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Korean J Pathol. 2001;35(2):180-183.
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Abstract
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- Alveolar soft part sarcoma, accounting for less than 1% of all soft tissue sarcomas, is known for late metastases to the lung, bone and brain. We have examined a case of metastatic alveolar soft part sarcoma to the brain in a 34-year-old woman. Computed tomography of the brain revealed a well enhancing dura based mass of the left temporal area.
The patient had a previous history of surgery for alveolar soft part sarcoma from the right thigh at the age of 24 years. She underwent total removal of the dural mass under the clinical impression of the meningioma. Grossly, a well-circumscribed, pale tan and solid mass was 3.4 x 3.2 x 2.4 cm and easily detached from the attached dura.
Histologically, the tumor showed typical features of alveolar soft part sarcoma. Immunohistochemically, tumor cells were positive for muscle related antibodies.
Ultrastructural examination showed rod-shaped membrane bound crystals and electron-dense granules in the cytoplasm of tumor cells.
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