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1.
Zhonghua Yi Xue Za Zhi ; 88(31): 2191-4, 2008 Aug 12.
Article in Chinese | MEDLINE | ID: mdl-19080669

ABSTRACT

OBJECTIVE: To investigate the diagnosis and treatment of sacrococcygeal teratoma in adults. METHODS: The clinical data of 17 patients with sacrococcygeal teratoma confirmed by pathological examination, 9 males and 8 females, aged 20 - 53, were analyzed retrospectively. RESULT: Correct diagnosis was made pre-operatively in 13 of the 17 patients. Two cases were misdiagnosed as with leiomyoma, and 2 cases as with sacrococcygeal cyst. Pathological examination confirmed the diagnosis of teratoma in all 17 cases. Thirteen patients were followed up for 1 - 5 years post-operatively. Malignant change was seen in 1 case, and 1 patient died 1 year after operation. Two patients suffered a relapse and then fully recovered after re-operation, and the other 15 patients all recovered without relapse. CONCLUSION: Sacrococcygeal teratoma in adults usually has no typical clinical symptom and signs and is often misdiagnosed. The pathologic examination is the base to make a definite diagnosis. Complete excision is necessary to prevent local recurrence and potential malignant transformation. The sacrococcygeal approach or combined abdominal-sacral approach is recommended.


Subject(s)
Spinal Neoplasms/diagnosis , Spinal Neoplasms/surgery , Teratoma/diagnosis , Teratoma/surgery , Adult , Female , Follow-Up Studies , Humans , Male , Middle Aged , Retrospective Studies , Sacrococcygeal Region , Young Adult
2.
World J Gastroenterol ; 13(10): 1612-7, 2007 Mar 14.
Article in English | MEDLINE | ID: mdl-17461458

ABSTRACT

AIM: To analyze the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in Chinese colorectal cancer (CRC) patients, and to discuss the value of microsatellite instability (MSI) and/or immunohistochemistry (IHC) for MSH2/MLH1 protein analysis as pre-screening tests in China. METHODS: The Amsterdam criteria I and II (clinical diagnosis) and/or germline hMLH1/hMSH2 mutations (genetic diagnosis) were used to classify HNPCC families. Genetic tests, including microsatellite instability, immunohistochemistry for MSH2/MLH1 proteins and hMSH2/hMLH1 genes, were performed in each proband. RESULTS: From July 2000 to June 2004, 1988 patients with colorectal cancer were analysed and 114 CRC patients (5.7%) from 48 families were categorized as having HNPCC, including 76 from 26 families diagnosed clinically and 38 from the other 22 families diagnosed genetically. The sensitivity and specificity of high MSI and IHC for predicting mutations were 100% and 54%, and 79% and 77%, respectively. CONCLUSION: The frequency of HNPCC is approximately 10% among all Chinese CRC cases. The MSI and IHC detections for hMSH2/hMLH1 proteins are reliable pre-screening tests for hMLH1/hMSH2 germline mutations in families suspected of having HNPCC.


Subject(s)
Colorectal Neoplasms, Hereditary Nonpolyposis/epidemiology , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Colorectal Neoplasms/epidemiology , Colorectal Neoplasms/genetics , Adaptor Proteins, Signal Transducing , Carrier Proteins/genetics , China/epidemiology , Colorectal Neoplasms/diagnosis , Colorectal Neoplasms/ethnology , Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis/ethnology , DNA, Neoplasm/genetics , Gene Expression Regulation, Neoplastic , Genetic Testing/methods , Germ-Line Mutation/genetics , Guidelines as Topic , Humans , Incidence , Microsatellite Instability , MutL Protein Homolog 1 , MutS Homolog 2 Protein/genetics , Nuclear Proteins/genetics , Prospective Studies , Sensitivity and Specificity
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