Cytogenetic analysis in human breast carcinoma. I. Nine cases in the diploid range investigated using direct preparations

Rodgers, Catherine S.; Hill, Sally M.; Hultén, Maj

doi:10.1016/0165-4608(84)90052-9

Cited by 107 publications

(44 citation statements)

References 20 publications

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“…Few reports on CG analysis of breast cancer exist in the literature (5,15,21,36). They have shown the frequent complexity of karyotypes, with variations concerning the involvement of individual chromosomes in the numerous abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Relevance of DNA ploidy as a measure of genetic deviation: A comparison of flow cytometry and cytogenetics in 25 cases of human breast cancer

Remvikos¹,

Gerbault‐Seurreau²,

Vielh³

et al. 1988

Cytometry

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Twenty-five human breast cancers, surgically resected, were studied by cytogenetic analysis and DNA flow cytometry (FCM). The establishment of karyotypes showed that multiple cell populations probably were derived from a single ancestor clone, because common marker chromosomes always could be demonstrated. Differences of up to 30% were observed when the estimates of DNA content by the two methods were compared. A general tendency toward the acquisition of large marker chromosomes should be at the origin of this discordance, as the proportion Cytogenetic (CGj analysis has proved to be a powerful tool for studying chromosomal abnormalities in human malignancy (37,46). A number of primary events thus have been characterized, some of which are tumor-type specific. However, it is a long and painstaking method and even in expert hands, is successful only for a limited number of samples. DNA modal values first were estimated on interphase nuclei by static cytophotometry, which showed frequent deviations as compared with the content of normal diploid cells and which introduced the prognostic significance of this parameter (3,4,41). The development of several methods for obtaining DNA histograms from solid tumors by flow cytometry (FCM) has facilitated the study of a large number of samples (9,30,42,44). The application of DNA-FCM on archival material (18) has extended the possibilities by permitting retrospective studies with a long follow-up (10,17,19). However, results have shown considerable variability, often within a specific cancer, but also between the different tumor types. Furthermore, if aneuploidy has been generally recognized as indicative of a poor prognosis, it has been shown to have favorable incidence on outcome in childhood acute leukemia (26).Studies comparing CG and FCM results, on various tumor types have shown the existence of discordant cases on the basis of DNA content (2,32,43). We have of markers for each case correlated significantly with the magnitude of the difference. Parallel use of the two methods revealed the existence of tumors with DNA diploid FCM profiles and highly abnormal hypodiploid karyotypes (35-40 chromosomes), which may explain the limited value of DNA ploidy as an independent prognostic factor in breast cancer.Key terms: Human breast cancer, DNA ploidy, cytogenetics, prognostic value shown previously that quantitative measurements of DNA (chromosome counts and DNA indices) are highly correlated in colorectal cancers (34).We are reporting here our CG and FCM results for 25 cases of human breast cancer. Chromosome banding has been used systematically for karyotypic analysis to obtain more qualitative information at the genetic level, as compared with DNA histograms. Implications as to the possible value of DNA index in terms of prognosis are discussed. MATERIALS AND METHODSNinety-four surgical specimens of previously untreated breast cancer were sent by pathologists to the cytogenetics department, 32 of which (34%) produced sufficient analyzable metaphases (4-41). FCM DNA histog...

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Section: Discussionmentioning

confidence: 99%

Relevance of DNA ploidy as a measure of genetic deviation: A comparison of flow cytometry and cytogenetics in 25 cases of human breast cancer

Remvikos¹,

Gerbault‐Seurreau²,

Vielh³

et al. 1988

Cytometry

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“…Karyotyping studies have shown that clonal deletions of 16q are frequent in carcinomas of the lung, breast, prostate, and liver (Carter et al, 1990;Devilee et al, 1991;Dutrillaux et al, 1990, Larsson et al, 1990Pan et al, 1998;Rodgers et al, 1984;Sato et al, 1990Sato et al, , 1998Tsuda et al, 1990). More recently three distinct regions of chromosome 16 involved in breast and prostate cancer were identi®ed by hypervariable marker studies.…”

Section: Introductionmentioning

confidence: 99%

Genetic mapping and DNA sequence-based analysis of deleted regions on chromosome 16 involved in progression of bladder cancer from occult preneoplastic conditions to invasive disease

Yoon

Zhang

et al. 2001

Oncogene

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Histologic and genetic mapping with 30 hypervariable markers mapped to chromosome 16 were performed on 234 DNA samples of ®ve cystectomy specimens from patients with invasive bladder cancer. Allelic losses of individual markers were related to microscopically identi®ed precursor conditions in the entire bladder mucosa and invasive cancer. Their signi®cance for the development and progression of neoplasia from in situ preneoplastic conditions to invasive disease was analysed by the nearest neighbor algorithm and binomial maximum likelihood analysis. Using this approach we identi®ed ®ve distinct regions of allelic losses de®ned by their¯anking markers and predicted size as follows. p13.3(D16S418-D16S406, 1.2 cM), p13.1(D16S748-D16S287, 12.9 cM), q12 1(D16S409-D16S514, 24.0 cM), q22.1 (D16S496-D16S515, 5.4 cM), and q24 (D16S507-D16S511, 5.9 cM and D16S402-D16S413, 17.4 cM). The regions mapping to p13.1 and q24 were involved in early intraurothelial phases of bladder neoplasia such as mild to moderate dysplasia. On the other hand the deleted region mapping to p13.3 was involved in progression of severe dysplasia/carcinoma in situ to invasive bladder cancer. Testing of markers that exhibited statistically signi®cant LOH in relation to progression of neoplasia from precursor conditions to invasive cancer on 28 tumors and voided urine samples from 25 patients with bladder cancer revealed that q12.1 showed LOH in 46.4% of tumor and 32.0% of voided urine samples. The LOH of a single marker D16S541 could be detected in approximately 28% of tumors and 20% of voided urine samples of patients with bladder cancer. These data imply that the deleted region centered around marker D16S541 spanning approximately 10 cM and¯anked by D16S409 and D16S415 contains a novel putative tumor suppressor gene or genes playing an important role in the development of human bladder cancer. To facilitate more precise positional mapping and identi®cation of pathogenetically relevent genes, we analysed of human genome contig and sequence databases spanning the deleted regions. Multiple known candidate genes and several smaller gene-rich areas mapping to the target regions of chromosome 16 were identi®ed Oncogene (2001) 20, 5005 ± 5014.

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“…Rodgers et al (13) analyzed nine primary breast cancers with pseudodiploid karyotypes and found that the only chromosomal feature common to all 9 breast cancers was the presence of a marker involving chromosome 1 (lqter-lq21). Cruciger et al (14) also found that the long arm of chromosome 1 was involved in translocations in 7 breast cancer cell lines.…”

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confidence: 99%

Loss of heterozygosity on chromosome 1q in human breast cancer.

Chen

Dollbaum

Smith

1989

Proc. Natl. Acad. Sci. U.S.A.

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Cytogenetic markers involving the long arm of chromosome 1 are the most frequently observed karyotypic changes seen in breast cancer. Based on cytogenetic data, we have used polymorphic DNA markers to search for aflelic losses at this chromosome region among 48 breast carcinomas. For SPTA1, allelic losses were seen in 6 of 26 (23%) informative carcinomas, while 3 of 13 (23%) and 5 of 19 (26%) informative patients showed losses at AT3 and D1S53, respectively. The background frequency of allelic loss was obtained from data using 3 other loci on the lq arm and 2 on the p arm of chromosome 1. With these markers, only 6 of 62 informative

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Cytogenetic analysis in human breast carcinoma. I. Nine cases in the diploid range investigated using direct preparations

Cited by 107 publications

References 20 publications

Relevance of DNA ploidy as a measure of genetic deviation: A comparison of flow cytometry and cytogenetics in 25 cases of human breast cancer

Relevance of DNA ploidy as a measure of genetic deviation: A comparison of flow cytometry and cytogenetics in 25 cases of human breast cancer

Genetic mapping and DNA sequence-based analysis of deleted regions on chromosome 16 involved in progression of bladder cancer from occult preneoplastic conditions to invasive disease

Loss of heterozygosity on chromosome 1q in human breast cancer.

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