Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient (original) (raw)
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Cytogenetic analysis of 33 basal cell carcinomas
Cancer research, 1991
Cytogenetic analysis of short-term cultures from 33 basal cell carcinomas (BCC), a type of neoplasm for which no previous karyological data exist, revealed clonal chromosome aberrations, all of them different, in 8 tumors. In 2 cases, 2 cytogenetically unrelated clones were detected, suggesting a multicellular origin in at least a subset of BCC. A remarkably high level of nonclonal structural rearrangements, mostly in the form of seemingly balanced translocations, was found in 23 tumors; namely, in 6 of 8 BCC with clonal karyotypic abnormalities and in 17 of 25 without. It is possible that some of these aberrations represent additional neoplastic clones, thus indicating an even higher level of cytogenetic heterogeneity in BCC. We think that the most likely interpretation of the results is that BCC may have a multicellular origin, reflecting field cancerization of the skin. During subsequent tumor development, the selection pressure narrows down the number of clones that infiltrate t...
Chromosomal changes in aggressive breast cancers with basal-like features
Cancer Genetics and Cytogenetics, 2009
Using high-resolution oligonucleotide CGH arrays, we evaluated chromosomal copy number changes in a series of 16 breast cancers, selected on the basis of highly similar pathological and molecular features characteristic of the "basal-like" phenotype. Each of these cancers showed numerous gains and losses, reflecting multiple chromosomal rearrangements during the development of these high-grade cancers. Chromosomal losses were particularly prevalent on chromosomal arms 5q, 8p, 9q, 12q, 17p, 19p, and Xq, and gains were commonly seen on chromosomal arms 1q, 8q, and 17q. Particularly remarkable were regions of high-level amplification (> 8-fold copy number change) on 4q12, 8q23.3, 19p12, and 19q13.2. These regions included candidate oncogenes cKIT, JUND, and AKT2., and immunohistochemistry confirmed that these particular genes were highly expressed in the cancers harboring the specific amplifications. However, each of these amplifications was observed only in individual cases, and no particular chromosomal alteration appeared to generally characterize this group of cancers. Thus, genomic changes among breast cancers with basal-like features appear to be very heterogeneous. Distinct high-level amplifications may provide new targets for treating some of these cancers, but copy number changes do not reveal a distinctive genomic fingerprint for this proposed class of breast cancers.
2008
Introduction. Few conventional cytogenetic studies of squamous cell carcinoma (SCC) have been performed to date. The introduction of cytogenetic techniques such as comparative genomic hybridization (CGH) has resolved some of the problems associated with conventional cytogenetics. The aim of this study was to analyze the presence of genetic abnormalities in a series of patients with SCC using the technique of array CGH. Material and methods. The study included 8 patients (7 men and 1 woman; mean age, 75 years) diagnosed with primary SCC. DNA was extracted from frozen tissue and analyzed by array CGH. Results. All cases had genetic alterations, with gains more frequent than losses. The chromosomal regions with gains, in descending order of frequency, were as follows: 5p15.2, 9q31.3-q33.2, 13q, 18q22, 1p21-p22, 1q24-q25, 3p13, 4q33-q34 (HMGB2, SAP30), 20p12.2 (JAG1), 21q21.1, and Xq21.33. The region 9p13.1-p13.3 was the only one to display recurrent loss. No correlation was observed between the presence of gains or losses and the clinical and pathologic characteristics of the tumors.
Multiple cytogenetic clones in a basal cell carcinoma
Cancer Genetics and Cytogenetics, 1991
Chromosome analysis of short-term culture of a basal cell carcinoma showed five clonal chromosome abnormalities, t(9;14)(q12 or q13;p11), del(1)(q23 or q25), trisomy 5, trisomy 7, and monosomy X. In addition, several nonclonal structural and numerical changes were seen in the tumor cells.
Genes, Chromosomes and Cancer, 2012
Only a minority of intraductal carcinomas of the breast give rise to stromally invasive disease. We microdissected 206 paraffin blocks representing 116 different cases of low grade DCIS. Fifty-five were pure DCIS cases without progression to invasive carcinoma. Sixty-one cases had a small invasive component. DNA was extracted from microdissected sections and hybridized to high density BAC arrays. Array comparative genomic hybridization (aCGH) analysis of 118 hybridized DNA samples yielded data on 69 samples that were suitable for further statistical analysis. This cohort included 20 pure DCIS cases (PD), 25 mixed DCIS (MD), and 24 mixed invasive carcinoma samples (MI). Pure DCIS cases had a higher frequency of DNA copy number changes than mixed DCIS cases, and the latter had similar DNA profiles compared to paired invasive carcinomas. Copy number changes on 13 chromosomal arms occurred at different rates in PD versus MD lesions. Eight of 19 candidate genes residing at those loci were confirmed to have differential copy number changes by quantitative PCR. NCOR2/SMRT and NR4A1 (both on 12q), DYNLRB2 (16q), CELSR1, UPK3A and ST13 (all on 22q) were more frequently amplified in PD. Moreover, NCOR2, NR4A1 and DYNLRB2 showed more frequent copy number losses in MD. GRAP2 (22q) was more often amplified in MD, whereas TAF1C (16q) was more commonly deleted in PD. A multi-gene model comprising these candidate genes discriminated between PD and MD lesions with high accuracy. These findings suggest that the propensity to invade the stroma may be encoded in the genome of intraductal carcinomas.
Trisomy 6 in basal cell carcinomas correlates with metastatic potential
Cancer, 2001
BACKGROUND. Most basal cell carcinomas (BCCs) are indolent lesions; a few become locally aggressive or even metastatic. Little is known about the molecular and genetic alterations in this malignant transformation. Conventional karyotyping in BCC has revealed a high frequency of nonclonal, structural rearrangements, with few cases that show multiple, unrelated, small clones suggestive of a multicellular origin. Trisomy 6 was described recently in a few BCCs, but the biologic significance of the appearance of trisomy 6 in BBCs was not clear.
Tumour Pathology, Abstract 226–234, Posters
Pathology - Research and Practice, 2003
Aims: Although molecular cytogenetic aberrations in female breast cancer are well established, data on cytogenetic aberrations in male breast cancer is scarce. We herein present DNA copy number changes in 20 cases of male breast cancer with follow-up using comparative genomic hybridisation. Methods: Classical prognostic parameters such as tumor size, lymph node status, estrogen and progesterone receptor status, as well as overall and recurrence-free survival were evaluated in relation to non-random DNA copy number changes detected by comparative genomic hybridisation using formalin-fixed and paraffinembedded tumor-tissue. Results: DNA copy number changes were observed in all 20 cases. The most common genetic alterations were gains of chromosomes 1q (10 of 20 cases), 8q (9/20), and 17q (7/20), and losses of chromosomes 8p (7/20), 13q (9/20), 16q (7/20), 22q (7/20).
Cytogenetic findings in two basal cell carcinomas
Cancer Genetics and Cytogenetics, 1994
We describe the cytogenetic study of two basal cell carcinomas. Only single chromosomally abnormal clones could be detected in both. In addition, many nonclonal changes were seen in the samples, which may represent small neoplastic clones or the result of a basic molecular defect induced by carcinogens.
PLOS ONE, 2016
Genomic alteration in head and neck squamous cell carcinoma (HNSCC) was studied in two cell line pairs (HN30-HN31 and HN4-HN12) using conventional C-banding, multiplex fluorescence in situ hybridization (M-FISH), and array comparative genomic hybridization (array CGH). HN30 and HN4 were derived from primary lesions in the pharynx and base of tongue, respectively, and HN31 and HN12 were derived from lymph-node metastatic lesions belonging to the same patients. Gain of chromosome 1, 7, and 11 were shared in almost all cell lines. Hierarchical clustering revealed that HN31 was closely related to HN4, which shared eight chromosome alteration cases. Large C-positive heterochromatins were found in the centromeric region of chromosome 9 in HN31 and HN4, which suggests complex structural amplification of the repetitive sequence. Array CGH revealed amplification of 7p22.3p11.2, 8q11.23q12.1, and 14q32.33 in all cell lines involved with tumorigenesis and inflammation genes. The amplification of 2p21 (SIX3), 11p15.5 (H19), and 11q21q22.3 (MAML2, PGR, TRPC6, and MMP family) regions, and deletion of 9p23 (PTPRD) and 16q23.1 (WWOX) regions were identified in HN31 and HN12. Interestingly, partial loss of PTPRD (9p23) and WWOX (16q23.1) genes was identified in HN31 and HN12, and the level of gene expression tended to be the down-regulation of PTPRD, with no detectable expression of the WWOX gene. This suggests that the scarcity of PTPRD and WWOX genes might have played an important role in progression of HNSCC, and could be considered as a target for cancer therapy or a biomarker in molecular pathology.