No abstract available.
Adenocarcinoma* ; Loss of Heterozygosity*

No abstract available.
Colorectal Neoplasms* ; Loss of Heterozygosity*

BACKGROUND/AIMS: The status of tumor suppression gene can be assessed indirectly by analyzing the loss of heterozygosity. Hepatoblastoma is a malignant liver tumor in childhood. To find the molecular carcinogenetic mechanism of hepatoblastoma, loss of heterozygosity (LOH) of p73, APC and p53 was studied. MATERIALS AND METHODS: Hepatoblastoma tissues from thirty-three cases were collected by lobectomy or tumorectomy. On H- stained sections, normal and tumor cells were microdissected separately and LOH analysis was perfomed using 8 markers: six of p73, one of APC and one of p53. RESULTS: Number of cases showing at least one LOH in six p73 markers was four out of twenty- six (15.4%): each LOH frequencies in D1S160, D1S170, D1S199, D1S228, D1S243 and D1S253 were in order of 7.7%, 0%, 9.1%, 0%, 12.5% and 0%. LOH frequency of APC was 41.7% and that of p53 was 13.3%. CONCLUSION: Low LOH frequency of p73 related markers indicates that p73 gene may not be implicated in carcinogenesis of hepatoblastoma.
Carcinogenesis ; Hepatoblastoma* ; Liver ; Loss of Heterozygosity*

No abstract available.
Genetic Loci* ; Loss of Heterozygosity* ; Stomach Neoplasms*

OBJECTIVE: Allelic losses or loss of heterozygosity (LOH) at many chromosomal loci have been found in the cells of meningiomas. The objective of this study was to evaluate LOH at several loci of different chromosomes (1p32, 17p13, 7q21, 7q31, and 22q13) in different grades of meningiomas. METHODS: Forty surgical specimens were obtained and classified as benign, atypical, and anaplastic meningiomas. After DNA extraction, ten polymorphic microsatellite markers were used to detect LOH. Medical and surgical records, as well as pathologic findings, were reviewed retrospectively. RESULTS: LOH at 1p32 was detected in 24%, 60%, and 60% in benign, atypical, and anaplastic meningiomas, respectively. Whereas LOH at 7q21 was found in only one atypical meningioma. LOH at 7q31 was found in one benign meningioma and one atypical meningioma. LOH at 17p13 was detected in 4%, 40%, and 80% in benign, atypical, and anaplastic meningiomas, respectively. LOH at 22q13 was seen in 48%, 60%, and 60% in benign, atypical, and anaplastic meningiomas, respectively. LOH results at 1p32 and 17p13 showed statistically significant differences between benign and non-benign meningiomas. CONCLUSION: LOH at 1p32 and 17p13 showed a strong correlation with tumor progression. On the other hand, LOH at 7q21 and 7q31 may not contribute to the development of the meningiomas.
DNA ; Hand ; Loss of Heterozygosity ; Meningioma ; Microsatellite Repeats ; Retrospective Studies

PURPOSE: Genomic alterations and abnormal expression of the fragile histidine triad (FHIT) gene in gastric cancer were examined to determine whether the FHIT gene is actually a frequent target for alteration during gastric carcinogenesis. MATENRIALS AND METHODS: To correlate DNA and RNA lesions of the FHIT gene with the effect on FHIT protein expression, in 40 gastric cancers, we investigated the FHIT gene for loss of heterozygisity (LOH), aberrant transcripts, and protein expression. RESULTS: Allelic loss at D3S1300 was detected in 7 of 38 (19%) informative cases. Aberrant transcripts were observed in 20 of 40 (50%) cases. Significant reduction of FHIT protein expression was observed in 22 of 40 (55%) cases. Aberrant FHIT transcription was shown to be associated with loss of FHIT protein expression. However, aberrent FHIT transcripts themselves were not associated with any clinicopathological parameters, such as age, sex, tumor site, or clinical stage. Moreover, there was no association between the presence of LOH at D3S1300 and the expression of aberrant FHIT transcripts. CONCLUSION: The high frequency of aberrant FHIT transcripts, the significant rate of LOH at D3S1300, and the altered expression of the FHIT protein indicate that alterations of the FHIT gene can play an important role in gastric carcinogenesis.
Carcinogenesis ; DNA ; Gene Expression* ; Histidine* ; Loss of Heterozygosity ; RNA ; Stomach Neoplasms*

The objectives of this study were to characterize the alterations of 3p and 9p in sporadic renal cell carcinomas (RCC) and to assess the relationship between the clinical stages or tumor size and the alteration of these chromosomes. Thirty eight archival, paraffin embedded tissue sections from 38 patients with RCC were analyzed for loss of heterozygosity (LOH) at 3p and 9p with 11 microsatellite markers. LOH was detected in 81.6% (31/38) and 37.8% (14/37) at 3p and 9p, respectively. The frequencies of LOH at VHL and FHIT locus were 75.6% and 72.2%, respectively. Twelve cases out of 38 showed LOH at both 9p21 and 3p. The loss of 3p in the samples tested was not related to clinical stages and tumor size, but that of 9p21 was significantly associated with advanced stage and larger tumor size. These results support that 3p deletion, including VHL and FHIT gene, play a critical role in the tumorigenesis of sporadic RCC, especially at early stage, and that 9p21 may contribute to the progression of sporadic RCC.
Carcinogenesis ; Carcinoma, Renal Cell* ; Humans ; Loss of Heterozygosity* ; Microsatellite Repeats ; Paraffin

BACKGROUND: Chromosome 15q15 near the thrombospondin-1 (THBS-1) gene may be associated with tumor progression and metastasis. To clarify the potential role of the15q15 region in progression of breast carcinoma, we investigated the loss of heterozygosity (LOH) and the microsatellite instability (MSI) status of chromosome 15q15. Methods : LOH and MSI were detected in 84 breast carcinoma specimens using PCR-based microsatellite analysis with three microsatellite markers. METHODS: LOH and MSI were detected in 84 breast carcinoma specimens using PCR-based microsatellite analysis with three microsatellite markers. RESULTS: Of 77 breast carcinomas containing the heterozygous alleles, 25 (32%) showed LOH in at least one microsatellite marker. Partial LOH and total LOH were detected in 14 (18.27%) and 11 (14.3%) cases. The total LOH were inversely correlated with node metastasis. A single LOH at D15S514 was inversely correlated with nuclear grade and a single LOH at the D15S129 allele was associated with increased expression of the THBS-1 gene. MSI-positive breast carcinomas detected in 14 (17%) cases showed no correlation with any clinicopathologic feature. CONCLUSIONS: These results indicate that loss of the chromosome 15q15 region delays the progression of breast carcinoma because the magnitude of LOH is large and involves the THBS-1 gene and additional genetic elements. The genes located on chromosome 15q15 probably play a tissue-type-dependent role in malignant growth of the tumor.
Alleles ; Breast ; Breast Neoplasms ; Loss of Heterozygosity ; Microsatellite Instability ; Microsatellite Repeats ; Neoplasm Metastasis ; Succinimides

The concept of mosaicism has been used to explain different cutaneous patterns, such as the lines of Blaschko, the checkerboard pattern, the phylloid pattern, and a patchy pattern. Many mosaic patterns are caused by loss of heterozygosity, the genetic mechanism by which a heterozygous somatic cell becomes either homozygous or hemizygous. A particular form of loss of heterozygosity is twin spotting, which give rise to two contrary homozygous daughter cells. The concept of twin spotting has been used for some of these human phenotypes, which are characterized by the co-occurrence of two different nevi, including nevus vascularis mixtus. Nevus vascularis mixtus is a rare vascular malformation characterized by the coexistence of a nevus anemicus and a nevus telangiectaticus, and can be associated with extra-cutaneous anomalies, such as cerebral malformations. Herein, we report a 6-year-old girl with paired cutaneous vascular nevi telangiectaticus, anemicus, and nevus vascularis mixtus, that were distributed on the left side of her chest and left arm, without other systemic and neurologic anomalies.
Arm ; Child ; Female ; Humans ; Loss of Heterozygosity ; Metrorrhagia ; Mosaicism ; Nevus* ; Nuclear Family ; Phenotype ; Thorax ; Twins ; Vascular Malformations

OBJECTIVE: Recent studies demonstrated that soluble tumor DNA is found in the plasma of cancer patients, and some microsatellite alteration have been identified in ovarian carcinoma. The aim of study was to detect microsatellite abnormalities in the plasma of patients with ovarian carcinoma and to evaluate their efficacy as molecular screening or diagnostic tool for ovarian cancer. METHODS: In fifteen ovarian carcinoma patients, DNA was extracted from the plasma samples and microsatellite analysis was done with 11 microsatellite markers. RESULTS: All fifteen cases showed at least one tumor specific alteration in microsatellite analysis. The frequency of genetic alteration varies from 14.2% to 85.7%. Highly frequent tumor specfic alteration markers are D18S69 (85.7%), D10S215 (69.2%), D16S504 (66.7%), D8SNEFL (62.5%) and D11S1340 (60.0%). CONCLUSION: These results suggest that the mutation of tumor DNA can be detected in plasma of patients with ovarian carcinoma. LOH is more frequent event and the frequency of genetic alteration is relatively higher than that of previous reports.
DNA ; Humans ; Loss of Heterozygosity* ; Mass Screening ; Microsatellite Instability ; Microsatellite Repeats* ; Ovarian Neoplasms* ; Plasma*