Cancer Genetics and Cytogenetics

Our medical research library holds 20 studies published in Cancer Genetics and Cytogenetics (1985–2006). Each entry links to the study's record on PubMed and, where there is one, to the publisher's page and a free full text. 16 have an abstract, the authors' own summary as PubMed records it: open "Abstract" to read it. For 2 studies PubMed has no abstract for, we give the abstract printed in the article or, where there is none, a summary we wrote from it, each labeled as such.

About the journal

• Publisher: Elsevier/North-Holland
• Published: 1979–2010, United States
• Language: English
• ISSN: 0165-4608 (print), 1873-4456 (electronic)
• Continued by: Cancer Genetics
• Its record in the NLM Catalog

2000s

• Cytogenetic and molecular genetic changes in malignant mesothelioma. M. Musti, E. Kettunen, S. Dragonieri, et al. 2006;170(1):9-15. Review PubMed · Publisher

  Abstract

  Malignant mesothelioma (MM) results from the accumulation of a number of acquired genetic events, especially deletions, which lead to the inactivation of multiple onco-suppressor genes in a multistep cascade mechanism. Past asbestos exposure represents the major risk factor for MM, and the link between asbestos fibers and MM has been largely proved by several epidemiologic and experimental studies. Asbestos fibers induce DNA and chromosomal damage. Most MM cases have shown multiple chromosomal abnormalities. Chromosomal losses are more common than gains. The most common cytogenetic abnormality in MM is a deletion in 9p21, the locus of CDKN2A, a tumor suppressor gene (TSG). The deletion of CDKN2A is a negative prognostic factor in MM. Loss of TSG CDKN2A/p14(ARF) is also common in MM and mutations in NF2 occur in approximately half of the cases. Despite the ban on asbestos use in Western countries, the incidence of MM is increasing, and asbestos is still used in developing countries. This epidemiologic situation calls for further research. Ongoing studies are already applying high-throughput genomic profiling methods in MM. Genetic alterations observed in MM may be useful in differential diagnosis between lung cancer and MM, as diagnostic markers or therapeutic targets, and as indicators of premalignancy for primary prevention and health surveillance.

• A cluster of familial malignant mesothelioma with del(9p) as the sole chromosomal anomaly. M. Musti, D. Cavone, Y. Aalto, et al. 2002;138(1):73-6. PubMed · Publisher

  Abstract

  We describe a family of three sisters affected by malignant mesothelioma (MM) (2 pleural and 1 peritoneal) and one brother affected by pleural plaques. All members of the family had been subjected to previous asbestos exposure of environmental-residential type. For 13 years, from 1951 to 1964, their housing was provided by the father's employer, an asbestos cement factory, and the factory warehouse was on the ground floor of the building they lived in. DNA extracted from paraffin-embedded MM samples was used to search for chromosomal alterations by a comparative genomic hybridization (CGH) method. In two cases, a loss at 9p was found to be the only change. The loss at 9p is a frequent event in malignant mesothelioma and the fact that this anomaly was diagnosed in two sisters as the only alteration suggests that this region may be the site of one or more oncosuppressor genes that could play an important role in the development of MM and in inducing greater genetic susceptibility to the carcinogenic effects of asbestos.

• DNA copy number changes in familial malignant mesothelioma. V. Ascoli, Y. Aalto, C. Carnovale-Scalzo, et al. 2001;127(1):80-2. PubMed · Publisher

  Abstract

  Malignant mesothelioma (MM) is predominantly a sporadic malignancy linked to exposure to asbestos. Clustering of MM in families suggests genetic susceptibility as a contributing factor. We performed comparative genomic hybridization (CGH) analysis on tumor samples from members of a family with MM of the pleura and a history of parental cancer. Our specific aim was to find a recurrent copy number loss indicating the chromosomal area to which a gene underlying the development of MM could be assigned according to the Knudson two-hit hypothesis. We found losses at 1p, 6q, 9p, 13q, and 14q. The copy number changes were very similar to those reported in sporadic cases. Our findings and results from sporadic cases highlight the importance of cloning the genes in the loss sites at 1p, 6q, 14q, and 22q.

• Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors. Mesothelioma. A.A. Sandberg, J.A. Bridge. 2001;127(2):93-110. Review PubMed · Publisher

1990s

• DNA fingerprint analysis reveals differences in mutational patterns in experimentally induced rat peritoneal tumors, depending on the type of environmental mutagen. N. Kociok, K. Unfried, M. Roller, et al. 1999;111(1):71-6. PubMed · Publisher

  Abstract

  We performed tumor DNA fingerprint analysis using the synthetic minisatellite probe S3315x2 based on the 33.15-repeat unit. The aim of the study was to investigate fingerprinting patterns of peritoneal tumors induced experimentally in Wistar rats by two carcinogens with unknown mechanism of action (crocidolite asbestos and nickel powder) and, as a positive control, benzo[a]pyrene. The carcinogens were administered intraperitoneally into rats. The banding patterns obtained with DNA from 71 peritoneal tumors were compared to the corresponding normal tissues. DNA derived from peritoneal tumors induced by the three carcinogens differed with respect to mutation frequencies and mutation patterns. The mutation frequencies in these tumors, revealed by DNA fingerprinting, were 18.2% for benzo[a]pyrene, 14.8% for crocidolite asbestos, and 40.9% for nickel powder. The alterations detected in the banding pattern of benzo[a]pyrene-induced peritoneal tumors were exclusively additional bands. On the contrary, in the DNA from asbestos-induced peritoneal tumors, only deletions of bands were observed on the autoradiographs. In the DNA from nickel-induced peritoneal tumors, both types of mutations occurred. The different mutation frequencies and mutation patterns appear to discriminate between benzo[a]pyrene, crocidolite asbestos, and nickel powder, and may be related to the mechanisms of action of these compounds.

• Translocation (3;3)(p14;q29) as the primary chromosome abnormality in a peritoneal mesothelioma. M.R. Teixeira, K.E. Giercksky, I.M. Ikonomou, et al. 1998;103(1):73-5. Case report · Review PubMed · Publisher

  Abstract

  Mesothelioma is a relatively rare malignant neoplasm arising from the serosal lining of the pleural, peritoneal, and pericardial cavities. Mesotheliomas are known to be associated with asbestos exposure. The karyotypes of these tumors have mostly been so complex as to preclude the identification of primary chromosome abnormalities. We present the cytogenetic analysis of two macroscopically distinct abdominal tumors, both diagnosed as peritoneal mesothelioma, occurring in a woman with a history of heavy asbestos exposure. Both tumors contained the same three karyotypically abnormal but cytogenetically related clones, with a balanced t(3;3)(p14;q29) as the primary chromosomal change. The fact that several chromosome abnormalities were common to both tumors strongly indicates that they arose through intraperitoneal spreading of a single neoplastic process; that is, they were not pathogenetically independent lesions. Our findings, taken together with previously published cytogenetic data on peritoneal mesotheliomas, indicate that a proportion of these tumors may be characterized by simple, balanced chromosomal rearrangements. At least a subset of peritoneal mesotheliomas arises through the same pathogenetic mechanisms that are involved in the pleural forms of this disease.

• Translocation (2;3)(p21;p26) as the sole anomaly in a benign localized fibrous mesothelioma. F. Mertens, R. Willén, R. Lillo-Gil, et al. 1996;92(1):90-1. Case report · Letter PubMed · Publisher

• Trisomy 21 in solitary fibrous tumor. P. Dal Cin, R. Sciot, C.D. Fletcher, et al. 1996;86(1):58-60. Case report PubMed · Publisher

  Abstract

  We found trisomy 21 as the sole chromosome abnormality in a solitary fibrous tumor arising at a nonpleural site. No cytogenetic investigation of solitary fibrous tumors has previously been reported.

  In plain English

  This short case report, by researchers at the University of Leuven, Belgium, and St. Thomas' Hospital, London, described the chromosomes of one solitary fibrous tumor. The article explained that this rare, usually benign tumor was previously called "fibrous mesothelioma" and typically occurs in the pleural cavity, the space between the membranes lining the lungs and chest wall. This tumor was outside the pleura, in the retroperitoneum. The patient was a 46-year-old woman. While she was being checked for spread of a skin melanoma, a 10 x 9 x 7 cm tumor was found at the right pelvic wall and removed by surgery. The tumor stained positive for the marker CD34 and negative for S-100, desmin and actin. Of 20 tumor cells examined, 15 had an extra copy of chromosome 21 (trisomy 21) as the only chromosome abnormality. Her blood cells had a normal female chromosome pattern. A second test (FISH) confirmed that the extra chromosome was chromosome 21. The authors noted that trisomy 21 as the only change is rare in solid tumors. The article does not discuss asbestos or any other exposure.

  We wrote this plain-English summary from the full article with the help of AI, and a second AI model checked each sentence against the article. It is not the authors' wording; the abstract and the article are their own account.

• Human ovarian tumors of epithelial origin express PDGF in vitro and in vivo. M.A. Versnel, M. Haarbrink, A.W. Langerak, et al. 1994;73(1):60-4. PubMed · Publisher

  Abstract

  In human malignant mesothelioma cell lines an elevation of the expression of the genes for the PDGF A-chain, PDGF B-chain, and PDGF beta-receptor was found compared to normal mesothelial cells. As ovarian epithelial tumors originate from the ovarian surface epithelium, which is of mesothelial origin, we investigated PDGF chain and PDGF receptor mRNA expression in six human ovarian cell lines of epithelial origin and a granulosa tumor cell line. All six investigated ovarian epithelial tumor cell lines expressed the PDGF A- and B-chain genes, while the granulosa tumor cell line expressed the PDGF A-chain gene only. Expression of PDGF receptors was not found in the epithelial or granulosa tumor cell lines. Cytogenetic and molecular biological studies did not provide evidence for rearrangement or genomic amplification of the PDGF B-chain. Expression of PDGF was also demonstrated in ovarian tumors in vivo. Frozen sections of six serous ovarian carcinomas stained positive with an antibody against PDGF and negative with antibodies against the PDGF alpha- and beta-receptors. These results suggest that PDGF expression might be a useful marker for ovarian carcinomas.

• A method for recovery of high-molecular-weight DNA suitable for field-inversion gel electrophoresis from frozen tumor cells. J.E. Reynolds, S.R. Diehl. 1993;65(1):68-70. PubMed · Publisher

  Abstract

  We describe a simple method for isolation of high-molecular-weight (high-mol-wt, > 800 kilobases) DNA from tumor cell lines frozen without dimethylsulfoxide (DMSO) or other protective agents. This method should be applicable to most frozen tissues and useful for molecular genetic studies such as field-inversion gel electrophoresis (FIGE), or cloning procedures that require access to intact, high-mol-wt DNA.

• Karyotypic changes in the preclinical and subsequent stages of malignant mesothelioma: a case report. I.L. Hansteen, B. Hilt, J.T. Lien, et al. 1993;70(2):94-8. Case report PubMed · Publisher

  Abstract

  The karyotypic evolution was evaluated in cells from recurring pleural effusions in a patient previously exposed to asbestos. Pleural malignant mesothelioma (MM) was diagnosed 4 years after the first cytogenetic examination. The primary cytogenetic changes consisted of loss of chromosomes 1p,14,21, Y, both 22, and derivative chromosomes involving 1, 2, and 14. The modal chromosome number was 44. Sixty-seven percent of the cells had a normal karyotype. After 4 years of spontaneous remission, only 6% of the cells had a normal karyotype, 42% had the same karyotypic changes as found previously, whereas 52% had additional derivative chromosomes involving chromosomes 1, 3, 5, 7, 8, and 12, trisomy 7, 7p, and 11, and partial or whole monosomy 3, 8, and 9. The chromosomal changes are in agreement with the main findings in previous reports. The karyotype remained quite stable for 7 months in vitro. After 23 months in culture, all the cells were near-triploid. Cells established in culture were cytokeratin positive. All derivative and marker chromosomes identified in the cultured cells had previously been observed in direct preparations from the pleural effusions. We conclude that chromosomes 1, 14, 21, and 22 may be involved in the preclinical stage of development of asbestos-induced mesothelioma, whereas the later chromosomal changes may be related to progression of the tumor.

• del(6q) as a possible primary change in malignant mesothelioma. A.M. Meloni, C.F. Stephenson, F.P. Li, et al. 1992;59(1):57-61. Review PubMed · Publisher

  Abstract

  Detailed cytogenetic and fluorescence in situ hybridization analysis of an untreated pleural malignant mesothelioma revealed two clonal cell populations, both with a single abnormality affecting chromosome 6. The majority of cells had a deletion together with an inversion of the long arm of chromosome 6, while a smaller population showed loss of this chromosome. The normal 6 was retained. Most reports show that mesotheliomas are characterized by complex karyotypes, involving numerous chromosomes. Abnormalities of chromosome 6 (particularly deletions of the long arm) are among the consistent changes. Our case apparently is the first report of a mesothelioma with a single change involving chromosome 6, which could be the primary cytogenetic change.

• Interphase cytogenetics on paraffin sections of malignant pleural mesothelioma. A comparison to conventional karyotyping and flow cytometric studies. M. Tiainen, A. Hopman, O. Moesker, et al. 1992;62(2):171-9. PubMed · Publisher

  Abstract

  We performed in situ hybridization (ISH) studies of malignant pleural mesotheliomas to detect numerical aberrations of chromosomes 1 and 7 in interphase nuclei of paraffin sections of 13 cases that had been analyzed previously by conventional karyotyping and flow cytometry. The hybridizations were performed with the biotin-labeled probes recognizing repetitive DNA sequences in the (peri)centromeric regions of chromosomes 1 (1q12) and 7(7cen). Application of histologic sections allowed us to analyze the tumor cells only. Comparison of the karyotype and ISH studies showed that the same chromosome copy numbers were detectable by both methods in 13 (chromosome 1) and in 12 (chromosome 7) cases evaluable by ISH. DNA indexes determined in the paraffin-embedded tumor material corresponded with the ISH findings. As compared with karyotype analysis, ISH showed a larger heterogeneity in chromosome copy numbers. The results can be divided into three groups: 1) Monosomy or disomy of chromosomes 1 and 7 was detected by both methods in two cases; 2) in four cases, disomy of both chromosome 1 and 7 was observed in most of the cells by ISH analysis, and karyotype analysis had shown clear polyploidization in three of these cases; 3) in seven cases, supernumerary copies of chromosomes 1 and/or 7 were present in an evident fraction (27-80%) of the cells analyzed by ISH, and karyotype analysis confirmed the aberrant copy numbers in five of these cases. On the other hand, ISH showed copy numbers not detected by karyotype analysis in six of the seven cases. Thus, by combining karyotype and interphase cytogenetic studies, complementary information about chromosomal aberrations in mesothelioma is obtained.

• Translocation X;12 in mesothelioma. P. Dal Cin, I. De Wever, P. Moerman, et al. 1991;55(1):115-8. Case report PubMed · Publisher

  Abstract

  Cytogenetic analysis of a non-asbestos-related mesothelioma showed a translocation between chromosomes X and 12 as the only chromosome abnormality, with breakpoints at bands q22 and p13, respectively.

  PubMed has no abstract for this study. This is the authors' abstract, copied from the article.

• Chromosome 3 and 12p rearranged in a well-differentiated peritoneal mesothelioma. H.J. Decker, F.P. Li, H.A. Bixenman, et al. 1990;46(1):135-7. Case report · Letter PubMed · Publisher

  Summary

  This letter reported the chromosome findings in one case of well-differentiated peritoneal mesothelioma. The patient was a 72-year-old woman with a history of Graves thyroiditis, a resected squamous cell carcinoma of the vulva, and multiple resected squamous and basal cell carcinomas of the face. She had no documented asbestos exposure, no family history of asbestos exposure, and her husband had not been exposed. Peritoneoscopy showed multiple nodules, and biopsies confirmed the diagnosis. After treatment with adriamycin, she underwent debulking surgery and omentectomy, and a piece of the tumor was taken for cytogenetic study. Seven harvests were performed and chromosomes were stained by GTG-banding. Seventy-three cells showed the karyotype 51,XX,+5,+7,+15,+16,del(3)(p14p24),del(11)(q22q25),t(3;12)(q13;p13). Four cells had a normal karyotype, one cell was tetraploid, and three cells showed hypodiploidy attributed to random loss. The authors compared these findings with published cytogenetic reports, most of which concerned pleural mesotheliomas with asbestos exposure. They noted that the only other peritoneal mesothelioma without asbestos exposure described cytogenetically in detail also had a breakpoint at 12p13. The only known oncogene close to this region is K-ras, at 12p12.1. They also noted that the 3p14 breakpoint corresponds to a known fragile site. The authors concluded that deletion of parts of 3p14-p21 and the 12p13 breakpoint may be of importance for the development of non-asbestos-related peritoneal mesotheliomas.

  PubMed has no abstract for this study, and the article doesn't print one. We wrote this summary from the full article with the help of AI. It is not the authors' wording.

• Cytogenetic analysis of malignant mesothelioma. A. Hagemeijer, M.A. Versnel, E. Van Drunen, et al. 1990;47(1):1-28. PubMed · Publisher

  Abstract

  Cytogenetic analyses of 40 confirmed malignant mesotheliomas (MMs) are reported. Pleural effusion cells were studied in 90% of the cases by direct method or after culture or both. Biopsy and ascites fluid were also analyzed in some patients. A normal karyotype was found in nine cases, and complex karyotypic abnormalities were observed in 30 cases. In one case, analyzable metaphases were not obtained. The chromosomal changes were all complex and heterogeneous; no consistent presumably specific abnormality was detected. Nevertheless, two main patterns of nonrandom abnormalities were observed: 1) loss of chromosomes 4 and 22, 9p, and 3p in the most of the abnormal cases and corresponding to a hypodiploid and/or hypotetraploid modal chromosome number; and 2) gain of chromosomes 7, 5, and 20 with deletion or rearrangement of 3p as well in the hyperdiploid cases, which were a minority in our series. These findings are discussed in view of other reported cytogenetic studies of MM, asbestos exposure, and possible mechanisms of malignant transformation.

1980s

• Specificity of asbestos-induced chromosomal aberrations in short-term cultured human mesothelial cells. K. Olofsson, J. Mark. 1989;41(1):33-9. PubMed · Publisher

  Abstract

  Short-term cultured normal human mesothelial cells were exposed for 48 hours to three different asbestos compounds, crocidiolite, chrysotile, and amosite. In the concentration used (0.01 mg/ml) all three asbestiform minerals caused, within a few days, a significant increase of cells showing numerical and/or structural abnormalities. The abnormalities were analyzed in detail using banding techniques. The results were compared with the cytogenetic observations in 52 published cases of mesotheliomas. This comparison revealed only a few similarities as regards numerical deviations. The structural rearrangements in asbestos-exposed cultures, however, in many instances involved chromosome types and chromosome regions preferentially affected in mesotheliomas.

• Cytogenetic findings in an effusion secondary from pleural mesothelioma. M.J. Bello, J.A. Rey, M.J. Avilés, et al. 1987;29(1):75-9. Case report PubMed · Publisher

  Abstract

  Cytogenetic analysis was performed on cells from pleural effusion secondary to an epithelial mesothelioma. Although chromosomal findings (pseudodiploid stemline, including marker chromosomes involving chromosomes #1, #3, #5, and #6) suggested the neoplastic origin of the effusion, routine cytologic diagnosis was negative.

• An early, nonrandom karyotypic change in immortal Syrian hamster cell lines transformed by asbestos: trisomy of chromosome 11. M. Oshimura, T.W. Hesterberg, J.C. Barrett. 1986;22(3):225-37. PubMed · Publisher

  Abstract

  Cytogenetic studies were performed on eight early passage Syrian hamster embryo cell lines independently derived following asbestos exposure. The modal chromosome number of all the immortal cell lines was near-diploid. At the earliest passage examined, six of eight cell lines had only numerical chromosome changes. Cells in each of these six cell lines had an extra chromosome #11, either as a sole karyotypic change or with other numerical changes. The remaining two cell lines displayed both numerical and structural chromosome changes, but without involvement of chromosome #11. Common abnormalities were -X or -Y, +3, and 8p- in one cell line, and -13 and t(13;21) in the other cell line. A nonrandom gain of chromosome #8 was also found in four cell lines. In three of the four cell lines, trisomy of chromosome #8 seems to have occurred during karyotypic progression. The observation that nonrandom changes in chromosome number are an early karyotypic change after carcinogen treatment supports our hypothesis that induction of aneuploidy by asbestos is mechanistically important in the transformation of Syrian hamster embryo cells in culture and, further, suggests that trisomy 11 plays a major role in the early steps of immortalization and neoplastic progression.

• Familial mesothelioma: review and family study. H.T. Lynch, D. Katz, S.E. Markvicka. 1985;15(1-2):25-35. PubMed · Publisher

  Abstract

  To date, with few exceptions, primary attention to the etiology of malignant mesothelioma has been focused on environmental factors. However, several reports of familial aggregations of mesothelioma strongly support the supposition that host factors, in concert with environmental exposure, particularly asbestos, may contribute etiologically to an as yet unknown fraction of occurrences of this disease. However, in evaluation of familial mesothelioma, it is important to consider the possibility of household exposure to asbestos. We report a family in which two brothers with prolonged occupational asbestos exposure manifested malignant pleural mesotheliomas of similar histology.

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