Loss of constitutional heterozygosity on chromosomes 5 and 17 in cholangiocarcinoma

Ding, Shi-Fa; Delhanty, Jda; Bowles, L.; Dooley, JS; Wood, C. B.; Habib, Nagy

doi:10.1038/bjc.1993.184

Cited by 28 publications

(13 citation statements)

References 29 publications

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“…Somatic mutations and lost of heterozygosity of APC were reported for colorectal, gastric, pancreatic and cholangiocarcinomas. 19,20 To our knowledge, ours is the first investigation of loss of heterozygosity and microsatellite instability in the APC locus in malignant melanomas. In total, 80% of cases with an instable APC locus did not show any APC expression on the protein level.…”

Section: Discussionmentioning

confidence: 99%

Analysis of adenomatous polyposis coli gene expression, APC locus-microsatellite instability and APC promoter methylation in the progression of melanocytic tumours

et al. 2004

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Adenomatous polyposis coli gene (APC) defects have been demonstrated for the first time in familial adenomatous polyposis. Recent reports indicate that the APC gene is an intermediary between cell adhesion molecules and the cytoskeleton and that it may function as a gatekeeper of colonic epithelial proliferation. The objective of this study was to analyse APC's presence in lentigos, primary melanomas and melanoma metastases. By immunohistochemistry, APC was demonstrated in all lentigos, in 75 out of 88 primary melanomas and in 16 out of 28 melanoma lymphatic metastases. The percentage of immunolabelled tumour cells (APC index) in lentigos ranged between 5 and 69%, in primary melanomas between 0 and 98% and in melanoma metastases between 0 and 52%. Statistically significant differences between lentigos and primary melanomas and between lentigos and metastases in APC expression were found. In a multivariate analysis, APC showed an independent prognostic impact. Analysis of microsatellite instability in the APC locus was performed on 29 melanomas. Microsatellite instability was found in 5/29 melanomas and loss of heterozygosity in 1/29 melanomas. Promoter methylation of APC was found in 6/10 APC-negative primary melanomas and in 9/10 APC-negative melanoma lymphatic metastases investigated. We conclude about important role of APC alterations for melanoma progression.

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Section: Discussionmentioning

confidence: 99%

Analysis of adenomatous polyposis coli gene expression, APC locus-microsatellite instability and APC promoter methylation in the progression of melanocytic tumours

et al. 2004

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“…The marker pairs selected for HCC (74 markers from 17 chromosomal arms) included 1p (D1S160, D1S163, D1S170, D1S186, MYCL), 3p (D3S1317), 4p (D4S394), 4q (D4S398, D4S395, D4S392, D4S422, FGA, FABP2, D4S427, D4S415, D4S1615, D4S1554, D4S1426, D4S1598, D4S620, D4S1566, D4S1545, D4S2920, D4S2943, D4S2954), 5q (D5S409), 6q (D6S264), 8p (D8S261, D8S277), 8q (D8S85, D8S200, D8S555, D8S283), 9p (D9S169, D9S1747, D9S104), 10q (D10S109), 11p (D11S554, D11S436, D11S1344, D11S932, D11S1324), 11q (D11S938, D11S29), 12p (D12S93), 13q (D13S171, D13S153, Rb1, D13S133, D13S227, D13S159, D13S166, D13S168), 14q (D14S72, D14S51), 16p (D16S419, D16S409, D16S3106, D16S498), 16q (D16S415, D16S408, D16S512, D16S289, D16S402, D16S516, D16S422, D16S413), and 17p (D17S520, D17S1176, TP53, D17S513, D17S578, D17S796, D17S849) based on previous reports (Yeh et al, 1996;Nagai et al, 1997;Piao et al, 1998;Fujii et al, 2000;Okabe et al, 2000;Yeh et al, 2001). The marker pairs selected for CC (35 markers from 16 chromosomal arms) included 2p (BAT-26), 3p (D3S3667, D3S1578, D3S3582, D3S3560, D3S1581, D3S3729, D3S1588, D3S3648), 4 (D4S415, D4S413), 5q (D5S323, D5S417), 6p (D6S263), 6q (D6S292), 7q (D7S495, D7S486), 9p (D9S747, D9S171), 11p (D11S907, D11S569), 14q (D14S1436), 16q (D16S3094, D16S511, D16S534, D16S520), 17 (D17S695), 18q (D18S67, D18S51, D18S535), 20 (D20S85), 21q (D21S1245, D21S1436, D21S1270), and Xp (DXS538) (Ding et al, 1993;Fujii et al, 2000). All of the tumours, irrespective of histopathology, were analysed for a total of 109 microsatellite markers (74 markers for HCC and 35 markers for CC) to confirm the specificity of chromosomal alterations as well as their presence in the serum as tumour markers.…”

Section: Analysis For Allelic Lossmentioning

confidence: 99%

Molecular diagnosis of primary liver cancer by microsatellite DNA analysis in the serum

Chang¹,

Ho²,

Chen³

et al. 2002

Br J Cancer

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Frequent loss of heterozygosity of microsatellites markers on specific chromosomal region have been reported in various types of primary human cancer. The same loss of heterozygosity has also been identified in the matched plasma/serum DNA. Using 109 microsatellite markers representing 24 chromosomal arms, we have examined the loss of heterozygosity in 21 cases of hepatocellular carcinoma, six of cholangiocarcinoma, and 27 cases of chronic hepatitis or cirrhosis. All cases of the hepatocellular carcinoma showed deletion from two to 10 chromosomal arms, while deletion of chromosomes from two to eight regions was detected in five of six cholangiocarcinoma patients. One or more loss of heterozygosity in the paired serum DNA could be detected in 16 of 25 (76.2%) hepatocellular carcinoma patients. In contrast, no alterations in serum DNA test could be found in cholangiocarcinoma patients. Five of seven (71.4%) hepatocellular carcinoma patients with alpha-fetoprotein levels less than 20 ng ml 71 produced positive serum DNA test. The profiles of 19 microsatellite markers gave a 100% positive predictive value and an 80.8% negative predictive value for hepatocellular carcinoma. In conclusion, we have determined a profile of microsatellite markers appropriate for differential diagnosis of primary liver cancer. The discovery may permit a high-throughput screening of hepatocellular carcinoma at an early stage of disease.

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“…These include frequent deletions of 5q in leukaemias and translocations associated with lymphoma (Willman et al 1993). In addition, loss of heterozygosity at 5q35-qter has been found in hepatocellular carcinomas that are not associated with hepatitis B virus infection (Ding et al 1991) and in cholangiocarcinoma (Ding et al 1993). It will be of interest to determine whether a relationship exists between the CLIO0 MAP kinase phosphatase and these cancers.…”

Section: Resultsmentioning

confidence: 97%

The CL100 gene, which encodes a dual specificity (Tyr/Thr) MAP kinase phosphatase, is highly conserved and maps to human chromosome 5q34

et al. 1994

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Expression of the human CL100 gene is induced in skin fibroblasts in response to oxidative/heat stress and growth factors. The CL100 gene encodes a dual specificity (Tyr/Thr) protein phosphatase that specifically inactivates mitogen-activated protein (MAP) kinase in vitro. In addition, CL100 is able to suppress the activation of MAP kinase by oncogenic ras in extracts of Xenopus oocytes. Thus, the CL100 phosphatase may play an important role in the negative regulation of cellular proliferation and is a likely candidate for a tumour-suppressor gene. Here, we show that DNA sequences homologous to CL100 are present in genomic DNA isolated from mouse, chicken, Xenopus and Drosophila, indicating that the CL100 gene is highly conserved. Using an assay based on the polymerase chain reaction, in conjunction with genomic DNA obtained from human-rodent somatic-cell hybrids, we have determined that the CL100 gene is situated on chromosome 5. Fluorescence in situ hybridisation using a CL100 genomic probe confirms that the CL100 mRNA is transcribed from a single genetic locus and maps the gene to 5q34.

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Loss of constitutional heterozygosity on chromosomes 5 and 17 in cholangiocarcinoma

Cited by 28 publications

References 29 publications

Analysis of adenomatous polyposis coli gene expression, APC locus-microsatellite instability and APC promoter methylation in the progression of melanocytic tumours

Analysis of adenomatous polyposis coli gene expression, APC locus-microsatellite instability and APC promoter methylation in the progression of melanocytic tumours

Molecular diagnosis of primary liver cancer by microsatellite DNA analysis in the serum

The CL100 gene, which encodes a dual specificity (Tyr/Thr) MAP kinase phosphatase, is highly conserved and maps to human chromosome 5q34

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