Methylation Abnormality in Body Fluid Cytology: A Supplemental Molecular Marker for the Diagnosis of Malignant Mesothelioma

송준선; 정진경; 강지혜; 황일선; 장세진

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자료유형: 학술저널

저자정보: 송준선 (울산대학교의과대학 서울 아산병원 병리과) 정진경 (울산대학교의과대학 서울 아산병원 병리과) 강지혜 (울산대학교의과대학 서울 아산병원 병리과) 황일선 (울산대학교의과대학 서울 아산병원 병리과) 장세진 (울산대학교의과대학 서울 아산병원 병리과)

저널정보: 대한세포병리학회 대한세포병리학회지 대한세포병리학회지 제19권 제2호

발행연도: 2008.1

수록면: 126 - 135 (10page)

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Malignant mesothelioma (MM) is a highly lethal neoplasm arising in pleura and the peritoneum and a rapid and accurate diagnosis is crucial for treatment of the disease. However, the sensitivity of cytological analysis using pleural or ascitic fluid is relatively low, yielding an accurate diagnosis in only $32{\sim}79%$ of cases. We tested the diagnostic value of epigenetic alterations in body fluid cytology as a supplement to conventional methods. Paraffin-embedded tissue blocks from 21 MM patients and associated body fluid cytology slides considered no evidence of malignancy were used to test for epigenetic alteration. Using methylation-specific PCR, we detected methylation of RASSF1A and p16 in 47.6% (10/21) of both surgically resected tumor samples, respectively. Body fluid samples of MM also showed abnormal methylation of RASSF1A and p16INK4a genes in 38.1% (8/21) and 33.3% (7/21) of cases. The concordance in the rates of RASSF1A and p16INK4a gene-methylation abnormalities determined from cytology samples and tissue samples were 61.9% (13/21) and 66.7% (14/21), respectively. Combining both genes increases the sensitivity of the test to 57.1 % (12 of 21) of cases. Our results suggest that testing for methylation abnormalities in selected individual genes or gene combinations has diagnostic value as an alternative or adjunct method to conventional cytological diagnosis.

#Mesothelioma #Methylation $p16^{INK4a}$ #RASSF1A #Body Fluid

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