Persistence of tumor DNA in plasma of breast cancer patients after mastectomy

Silva, José M.; García, José M.; Domínguez, Gemma; Silva, Javier; Miralles, Celia; Cantos, Blanca; Coca, Santiago; Provencio, Mariano; España, Pilar; Bonilla, Félix

doi:10.1245/aso.2002.9.1.71

Cited by 86 publications

(86 citation statements)

References 23 publications

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“…The results are comparable to some prior reports showing microsatellite alterations in the plas- ma/serum from cancer patients (Chen et al, , 1999Goessl et al, 1998;Hibi et al, 1998;Eisenberger et al, 1999;Silva et al, 1999;Sozzi et al, 1999Sozzi et al, , 2001Coulet et al, 2000;Nunes et al, 2001). However, the sensitivity of microsatellite DNA test greatly depends on the kind of cancer studied.…”

Section: Discussionsupporting

confidence: 87%

“…However, the sensitivity of microsatellite DNA test greatly depends on the kind of cancer studied. For example, the detection rate was 71% for small cell carcinoma of the lung , from 60 to 63% for renal cell carcinoma (Goessl et al, 1998;Eisenberger et al, 1999), between 48 and 66% for breast cancer (Chen et al, 1999;Silva et al, 1999), from 40 to 45% for non-small cell lung cancer (Sozzi et al, 1999(Sozzi et al, , 2001, between less than 2 and 18.7% for head and neck cancer (Coulet et al, 2000;Nunes et al, 2001) using a set of primer pairs. In contrast, the lack of tumour-specific LOH in the serum of CC patients appears to correspond to the observation reported for colon cancer (0%) (Hibi et al, 1998), though these patients may still have very low levels of tumour-derived DNA.…”

Section: Discussionmentioning

confidence: 99%

“…Frequent loss of heterozygosity (LOH) of microsatellites markers on specific chromosomal region have been reported in various types of human cancer. In addition, nucleic acid-based molecular techniques have successfully identified the same LOH in the paired plasma/serum DNA from patients with diverse types of epithelial cancer, such as lung Sozzi et al, 1999Sozzi et al, , 2001, head and neck (Coulet et al, 2000;Nunes et al, 2001), colon (Hibi et al, 1998), breast (Chen et al, 1999;Silva et al, 1999), kidney (Goessl et al, 1998;Eisenberger et al, 1999). The results indicate that microsatellite DNA analysis may have potential as a non-invasive test for cancer diagnosis.…”

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confidence: 99%

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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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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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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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“…Numerous studies have demonstrated tumour-specific alterations, such as aberrant promoter hypermethylation in cirDNA recovered from plasma of patients with different malignancies, and the absence of methylated DNA in healthy persons (Silva et al, 2002). Changes in the status of DNA methylation represent one of the most common molecular alterations in human neoplasia (Egger et al, 2004), including breast cancer (Widschwendter and Jones, 2002).…”

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confidence: 99%

Cell-free and cell-bound circulating DNA in breast tumours: DNA quantification and analysis of tumour-related gene methylation

et al. 2006

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Tumour development is characterised by the increased circulating DNA (cirDNA) concentration and by tumour-related changes in blood plasma DNA. Concentration of cirDNA and methylation of RARb2, RASSF1A and HIC-1 gene promoters were investigated in cell-free and cell-surface-bound fractions from healthy donors, patients with breast cancer, and patients with breast fibroadenoma. Tumour development was shown to lead to significant changes in the distribution of cirDNA between cell-free and cell-surfacebound fractions. Analysis of RARb2 and RASSF1A methylation in the total cirDNA provides 95% diagnostic coverage in breast cancer patients, 60% in patients with benign lesions, and is without false-positive results in healthy women. Results of the study indicate that methylation-specific PCR of RARb2 and RASSF1A genes based on the total cirDNA combined with the quantitative analysis of cirDNA distribution between cell-bound and cell-free fractions in blood provide the sensitive and accurate detection and discrimination of malignant and benign breast tumours.

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“…Allelic imbalances (AIs) appearing as loss of heterozygosity (LOH) or as microsatellite instability (MSI) have been detected in the circulating DNA of patients with a variety of malignancies, such as non-small-cell lung cancer (Sozzi et al, 1999), renal cell carcinoma (Gonzalgo et al, 2002), bladder cancer (Utting et al, 2002), breast cancer (Silva et al, 1999), colon cancer (Diep et al, 2003), and malignant melanoma (Taback et al, 2004). Nawroz et al (1996) first demonstrated that AIs could be detected in the plasma/ serum DNA of head and neck SCC, suggesting that circulating tumour-associated DNA in the blood of patients with oral SCC can be a key determinant in predicting tumour recurrences or metastasis.…”

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confidence: 99%

Monitoring of circulating tumour-associated DNA as a prognostic tool for oral squamous cell carcinoma

et al. 2005

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Frequent allelic imbalances (AIs) including loss of heterozygosity and microsatellite instability on a specific chromosomal region have been identified in a variety of human malignancies. The objective of our study was to assess the possibility of prognostication and monitoring of oral squamous cell carcinoma (SCC) by microsatellite blood assay. DNA from normal and tumorous tissues and serum DNA obtained at three time points (preoperatively, postoperatively, and 4 weeks postoperatively) from 64 patients with oral SCC was examined at nine microsatellite loci. In all, 38 (59%) DNA samples from tumorous tissues and 52% from serum showed AIs in at least one locus. Patterns of AIs in the serum DNA were matched to those detected in tumour DNA. Of them, AIs were frequently detected preoperatively (44%, 28 of 64), and postoperatively (20%, 13 of 64). Moreover, among 12 cases with AIs during the postoperative period, six had no evidence of an AI 4 weeks postoperatively, and they had no recurrence and were disease free. In contrast, six patients with AI-positive DNA 4 weeks postoperatively have died with distant metastasis within 44 weeks. Thus, our results suggest that the assessment of microsatellite status in the serum DNA could be a useful predictive tool to monitor disease prognosis.

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Persistence of tumor DNA in plasma of breast cancer patients after mastectomy

Abstract: Persistence of plasma DNA with features of tumor DNA may be present after mastectomy in breast cancer patients, and its relation to bad-prognosis histological parameters may suggest undetectable micrometastatic disease.

Cited by 86 publications

References 23 publications

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

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

Cell-free and cell-bound circulating DNA in breast tumours: DNA quantification and analysis of tumour-related gene methylation

Monitoring of circulating tumour-associated DNA as a prognostic tool for oral squamous cell carcinoma

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