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PubMed2002

Relationship between chromosome fragility, aneuploidy and severity of the haematological disease in Fanconi anaemia.

Fanconi anemia (FA) is a chromosome instability syndrome, characterized by progressive pancytopenia and cancer susceptibility. Other cellular features of FA cells are hypersensitivity to DNA cross-linking agents and accelerated telomere shortening. We have quantified overall genome chromosome fragility and euploidy as well as chromosomes 7 and 8 aneuploidy in peripheral blood lymphocytes from a group of FA patients and age-matched controls that were previously measured for telomere length. The haematology of FA samples were also characterized in terms of whole blood cell, neuthrophil and platelet counts, transfusion dependency, requirement of androgens, cortico-steroids or bone marrow transplantation, and the development of bone marrow clonal cytogenetic abnormalities, myelodysplastic syndrome or acute myeloid leukemia. As expected, a high frequency of spontaneous chromosome breaks was observed in FA patients, especially of chromatid-type. No differences in chromosomes 7 and 8 monosomy, polysomy and non-disjunction were detected between FA patients and controls. The same was true for overall genome haploidy or polyploidy. Interestingly, the spontaneous levels of chromosome fragility but not of numerical abnormalities were correlated to the severity of the haematological disease in FA. None of the variables included in the present investigation (chromosome fragility, chromosome numerical abnormalities and haematological status) were correlated to telomere length.

Aneuploidy↗

PubMed1996

Analysis of chromosome segregation by means of fluorescence in situ hybridization: application to cytokinesis-blocked human lymphocytes.

The application of methods based on in situ hybridization to centromeric regions to cytokinesis-blocked cells provides a convenient way for the analysis of chromosome segregation in interphase cells. In this way, the reciprocal segregation patterns in daughter nuclei can be visualized and most of the problems related to the artefactual loss or gain of chromosomes which flaw other methods are avoided. In this work, the methodology has been applied to human lymphocytes to investigate the influence of donor age on spontaneous malsegregation rates, the occurrence of multiple malsegregation events, and the effect of the cytokinesis-blocking agent cytochalasin B (Cyt B) on spontaneous and induced chromosome malsegregation. The results obtained with 14 male donors, aged 22-57 years, demonstrated a significant (p < 0.001) increase in the frequency of micronuclei and X chromosome missegregation (both non-disjunction and chromosome loss) with the increasing age of the donors. Moreover, a similar association was observed with cultures hybridized with either chromosome 8 or 18 centromere probes, suggesting that the age-related loss of fidelity in chromosome segregation in vitro may be a general trait. The investigation of the distribution of multiple malsegregation events in cultured lymphocytes of eight male and nine female donors, with the simultaneous hybridization with pairs of centromeric probes (for chromosomes X and 8 or X and 18), demonstrated a large excess of multiple events with respect to that expected by random segregation. This fact may highlight the existence of cellular subpopulation(s) prone to malsegregate, or indicate that the malsegregation of one chromosome is able to affect the fidelity of segregation of the other chromosomes. Finally, the possible influence of Cyt B on chemically induced malsegregation has been investigated with the analysis of chromosomes X and 8 signals in nuclei of lymphocyte cultures treated with vinblastine (2.5-20 ng/ml) in the presence and absence of 6 micrograms/ml Cyt B. Vinblastine induced a small increase in hyperploidy of either chromosome X or 8 at 10 ng/ml in cultures treated with Cyt B. Without Cyt B, a significant increase of hyperploidy was only observed at the highest dose assayed (20 ng/ml). This vinblastine dosage had a severe inhibitory effect on cultures treated with Cyt B, where no binucleated cells were detected. At all doses, a relatively greater mitotic index was observed in cultures with Cyt B, suggesting a synergistic effect of this drug with vinblastine. Most notably, at the two highest vinblastine dosages (10 and 20 ng/ml), a large incidence of polyploid nuclei was observed in cytokinesis-blocked cultures, whereas none or far lower increases of polyploidy were found in the absence or Cyt. B. This results provides direct evidence of the potential of Cyt B to indirectly interfere with chromosome misdistribution induced by a spindle poison, to be considered before drawing firm conclusions from kinesis-blocked systems.

Adult↗

PubMed1997

Chromosomal aberrations in vitro induced by aneugens.

Various aneugens were reported to induce structural chromosomal aberrations beside their influence on cell division and their aneugenic potential To asses, whether a relationship between disturbance of cell division and clastogenic potential exists, CHO cells were treated with the well-known aneugens colcemid, colchicine and vincristine and investigated for the induction of structural chromosomal aberrations, polyploid cells and alterations in mitotic index. At low and intermediate concentration, all compounds induced polyploidy and an increase in mitotic index, but no structural aberrations at all. However, at high concentrations, colcemid and colchicine both induced numerous structural chromosomal aberrations in diploid cells. Colchicine was also clastogenic in tetraploid cells. Vincristine did not induce structural chromosomal aberrations in diploid cells, but in tetraploid cells. The clastogenic effects showed a clear-cut threshold with all three compounds. Furthermore, it was found that the tetraploid condition in CHO cells is generally accompanied by an increase in structural chromosomal aberrations, in vehicle controls as well as in cultures treated with the aneugens. Nevertheless, this study demonstrates that for the three aneugenic compounds tested, no direct relationship between compound induced disturbance of cell cycle and compound induced structural chromosomal aberration incidence exists.

Aneuploidy↗

PubMed1998

Enhancement of bone marrow radioprotection and reduction of WR-2721 toxicity by Ocimum sanctum.

The radioprotective effect of the leaf extract of Ocimum sanctum (OE) in combination with WR-2721 (WR) was investigated on mouse bone marrow. Adult Swiss mice were injected intraperitoneally (i.p.) with OE (10 mg/kg on 5 consecutive days), or 100-400 mg/kg WR (single dose) or combination of the two or double-distilled water (DDW) and whole-body exposed to 4.5 Gy gamma-irradiation (RT). Metaphase plates were prepared from femur bone marrow on days 1, 2, 7 and 14 post-treatment and chromosomal aberrations were scored. The maximum number of aberrant cells was observed at 24 h after irradiation in all the groups. However, pretreatment with OE or WR individually resulted in a significant decrease in aberrant cells as well as different types of aberrations. The combination of the two further enhanced this effect; resulting in a 2-fold increase in the protection factor (PF = 6.68) compared to 400 mg/kg WR alone. The percent aberrant cells decreased linear-quadratically with WR dose when given individually, while in the OE + WR pretreatment animals the values showed a linear dose response. Combination of OE with WR doses above 200 mg/kg completely eliminated rings, polyploidy and pulverization of chromosomes. Percent aberrant cells decreased with time in all groups, though the values remained higher than normal even on day 14 in the RT alone as well as those treated with single agent + RT. WR doses above 200 mg/kg before RT resulted in significantly higher frequency of aberrant cells compared to RT and OE + RT groups on day 14, suggesting delayed WR toxicity; but combination of OE with WR brought down these values to normal level, indicating that OE combination, in addition to enhancing WR protection, may also act as a detoxifier. The protective effect of OE and WR is also reflected in the enhancement of bone marrow CFU survival. Both OE and WR possessed significant free radical scavenging activity in vitro. The combination of the two further enhanced this effect, suggesting that the enhanced free radical scavenging activity by combining the two protectors results in the higher bone marrow cell protection. The significant elevation in chromosome protection obtained by combining OE with WR, with reduction in the latter's toxicity at higher doses, suggests that the combination may have promise for radioprotection in humans.

Amifostine↗

PubMed1998

Altered gene expression and genetic damage in North American fish populations.

Populations of marine, estuarine, and freshwater fish from highly urban and industrialized sites in North America often exhibit elevated prevalences of neoplastic, preneoplastic, and nonneoplastic hepatic lesions, and sometimes epidermal neoplasms compared to conspecifics from more pristine reference locales. Positive statistical associations with environmental concentrations of PAHs and other xenobiotics and experimental laboratory studies suggest a chemical etiology to these epizootics. Studies have investigated the expression of carcinogenically relevant genes, the extent of overall DNA damage, somatic cell mutations, germ line polymorphisms, and overall levels of genetic diversity in fish from these populations and other polluted sites. In general, elevated levels of cytochrome P4501A expression have been found in fish from contaminated locales; however, inhibition of gene induction has been seen in hepatic lesions and in normal tissue in fish from the most contaminated sites, perhaps due to genetic adaptation or physiological acclimation. Levels of bulky hepatic DNA adducts, as detected by 32P-postlabeling, are almost always elevated in fish from populations that are exposed to highly contaminated environments. However, levels of DNA adducts were not always predictive of the vulnerability to neoplasia of populations and species from polluted sites. Elevated levels of oxygen radical-induced DNA damage have been observed in hepatic tumors, preneoplastic lesions, and normal livers in a single species of flatfish from contaminated sites; however, the prevalences of these alterations in other species and at other polluted sites has yet to be evaluated. Frequent alterations in the K-ras oncogene have been reported in hepatic neoplasms in several species from highly contaminated sites and also in embryos that were experimentally exposed to oil-contaminated sediments. Studies also suggest that heritable germ line polymorphisms, altered allelic frequencies, and reductions in overall genetic diversity may have occurred in some highly impacted populations; however, the origin and functional significance of altered allelic frequencies have largely yet to be evaluated. In summary, feral fish appear particularly sensitive to DNA alterations from xenobiotics, perhaps due to their unusually high levels of exposure, relatively inefficient DNA repair, and the high frequency of polyploidy in some taxa and provide excellent models to explore the relationships between xenobiotic exposure and altered gene structure and expression.

Animals↗

PubMed1988

Nesidiodysplasia--a histologic entity?

Five cases of persistent neonatal hyperinsulinemic hypoglycemia (PNHH) were studied by a combined immunofluorescent and Feulgen technique under a computerized microscope which was used to measure the area and absorbance of beta cell nuclei. An increase of 16% was found in the nuclear area and absorbance of the beta cells in PNHH cases, in comparison with age-matched control cases. A smaller increase (9%) was found in nuclear area and absorbance of non-endocrine ductal cells in PNHH cases. In all PNHH and control cases, higher values of nuclear area and absorbance were found for beta cells in the islets of Langerhans than for nesidioblasts. The increase in average size of beta cell nuclei in PNHH can be used as a morphologic criterion for diagnosis in these cases. The increased absorbance of the nuclei stained with the Feulgen reaction is the morphologic expression of polyploidy, and has a correlation to the metabolic activity of beta cells in this disorder. We conclude that, in contrast to the normal postnatal developmental process of nesidioblastosis, nesidiodysplasia is a well-defined histologic entity, manifested by an increase of beta cell nuclear size and its DNA content.

Humans↗

PubMed1983

Quantitative histochemical estimation of the DNA content of the main histological types of lung cancer, with particular reference to the diagnosis of the degree of differentiation.

The results of microspectrophotometric measurements of the content of DNA of the cell nuclei developed in the zones of growth of 52 neoplasms of the lung of different histological types and degree of differentiation are shown. It was found that the growth of anaplasia of the tumour tissue to be characterized by increased "DNA Accumulation Index" and increased polyploidy. The authors think that quantitative determination of the DNA may be of value as an objective diagnostic test of malignization and degree of differentiation of lung cancer.

Cell Differentiation↗

PubMed2000

Some aspects of plant karyology and karyosystematics.

The significance of the 4C value (where C is the amount of DNA in the unreplicated haploid genome) in angiosperm plants is discussed. The DNA amount is a stable feature used in biosystematics. Although this parameter varies even in closely related taxa, there is no correlation between the DNA amount and the structural and functional organization of plants. The role of DNA amount, including "excess" DNA, in plant evolution is considered. Some rules governing the distribution of DNA amount among different plant taxa are postulated, together with the possibility of using the data in systematics, phylogeny, and solutions of problems of genetic apparatus organization and evolution. The decrease in DNA value per genome during plant evolution and the high level of species formation in taxa with large DNA values have been shown. Plant taxa with a small DNA value per genome have a high percentage and higher degree of polyploidy. The nature of the differential staining of euchromatin and heterochromatin bands of prophase and metaphase chromosomes is also discussed. Data that could explain the mechanism of heterochromatin visualization under cold pretreatment of cells are reviewed. Phenomena involved in the arrangement of chromocenters in interphase nuclei and chromosomes in metaphase during consecutive cell generations are discussed.

Gene Expression Regulation, Plant↗

PubMed1996

Polytene chromosomes in mammalian cells.

This article deals with the structural and functional organization of polytene chromosomes in mammals. Based on cytophotometric, autoradiographic, and electron microscopic data, the authors put forward a concept of nonclassic polytene chromosomes, with special reference to polytene chromosomes in the mammalian placenta. In cells with nonclassic polytene chromosomes, two phases of the polytene nucleus cycle are described, such as the endointerphase (S phase) and endoprophase (G phase). The authors generalize that the main feature of nonclassic polytene chromosomes is that forces binding the sister chromatids are much weaker than in the Diptera classic polytene chromosomes. This concept is confirmed by comparative studies of human, mink, and fox polytene chromosomes. The final step of the trophoblast giant cell differentiation is characterized by a transition from polyteny to polyploidy, with subsequent fragmentation of the highly polyploid nucleus into fragments of low ploidy. Similarities and dissimilarities of pathways of formation and rearrangement of nonclassic polytene chromosomes in mammals, insects, plants, and protozoans are compared. The authors discuss the significance of polyteny as one of the intrinsic conditions for performance of the fixed genetic program of trophoblast giant cell development, a program that provides for the possibility of a long coexistence between maternal and fetal allogenic organisms during pregnancy.

Animals↗

PubMed1997

Chromosomal analysis of mammalian oocytes matured in vitro with various culture systems.

The objective of this study was to evaluate oocyte maturation in vitro. Ten virgin CD-1 mice were used with 3 replications for in vitro with 4 different culture media. Media were minimal essential medium (MEM) with Earl's salt, Waymouth MB 752/1 (MB 752/1), BGjb medium (BGjb), and tissue culture medium-199 (TCM-199). The oocyte chromosomes were C-banded to enable an objective analysis of the chromosome abnormality and number. There was a percentage of blockage at metaphase I (M I), in matured oocytes in all culture media. Metaphase II (M II) was reached by 70.9 to 87.3% of oocytes in 4 different culture media. The frequencies of hyperploid M II oocytes were 0.0, 1.1, 2.8 and 2.6% for TCM-199, MEM, MB 752/1 and BGjb, respectively. A small proportion of oocytes was also found to be polyploid in 4 different culture media. There was an occurrence of premature centromere separation among oocytes. It was concluded that the chromosomes of the oocytes matured in vitro were not all in the normal condition (being at M II). The media used in this study for oocyte maturation caused maturation delay (being blocked at M I), premature centromere separation, polyploidy, and aneuploidy (such as, hyperploid, hypoploid).

Journal Article↗

PubMedDate not supplied

Genotoxic impacts in Klaipeda Marine port and Bŭtinge oil terminal areas (Baltic Sea).

Genotoxic effects were evaluated in the somatic and gonadal cells of bivalve and gastropod molluscs inhabiting different sites of Klaipeda port area in Lithuania. The occurrence of aneuploidy and polyploidy of cells, meiotic injures, centromere dissociation and fragmented polyploid nuclei as cytogenetic indicators of environmental stressors was assessed in snails Lymnaea ovata . The highest level of environmental genotoxicity (in 43.2 and 46.2% of studied cells) was observed in the tissues of snails inhabiting Malku Bay in 1995 and 1996. Dredging and thus removal of contaminated sediments from Malku Bay resulted in significant decrease (up to 27.2% in 1999) of cytogenetic injures in molluscs studied over the period from 1997 to 1999. However, the frequency of cytogenetic disturbances in molluscs from Vilhelmo Channel was increasing (1.8 times) from 1995 to 1999. Therefore, the ecological safety of the biggest drinking water supply for Klaipeda population became questionable. Assessment of cytogenetic damage in Mytilus edulis (MN test) and the crustacean, Balanus improvisus, (aneugenic effects) inhabiting the Baltic Sea at Bŭtinge oil terminal has shown the highest genotoxicity level in the zone of sewage effluents from Palanga town and Mazeikiai oil refinery plant. Extensive cytogenetic injuries in gonadal cells indicated the potential long-term hazards of pollutants to ecological health and integrity of aquatic species.

Aneuploidy↗

PubMed1999

Leukemia cell lines: in vitro models for the study of Philadelphia chromosome-positive leukemia.

The Philadelphia (Ph) chromosome, the main product of the (9;22)(q34;q11) translocation, is the cytogenetic hallmark of chronic myeloid leukemia (CML), a clonal myeloproliferative disorder of the hematopoietic stem cell; the Ph chromosome is also found in a sizeable portion of acute lymphoblastic leukemia (ALL) patients and in a small number of acute myeloid leukemia (AML) cases. At the molecular level, the t(9;22) leads to the fusion of the BCR gene (on chromosome 22) to the ABL gene (translocated from chromosome 9); this fusion gene BCR-ABL with its elevated tyrosine kinase activity must to be central to the pathogenesis of these disorders. Three different breakpoint cluster regions are discerned within the BCR gene on chromosome 22: M-bcr, m-bcr, and mu-bcr. Ph + leukemia cell lines are important tools in this research area. More than 20 ALL-and more than 40 CML-derived Ph + leukemia cell lines have been described. Furthermore, three Ph + B-lymphoblastoid cell lines, established from patients with Ph + ALL or CML, are available. Molecular analysis has documented BCR-ABL fusion genes in three apparently Ph chromosome-negative cell lines, all three derived from CML. Nearly all Ph + ALL cell lines have the m-bcr e1-a2 fusion gene (only two ALL cell lines have a b3-a2 fusion) whereas all CML cell lines, but one carry the M-bcr b2-a2, b3-a2 or both hybrids. The mu-bcr e19-a2 has been detected in one CML cell line. Four cell lines display a three-way translocation involving chromosomes 9, 22 and a third chromosome. Additional Ph chromosomes (up to five) have been found in four Ph + ALL cell lines and in 18 CML cell lines; though in some cell lines the extra Ph chromosome(s) might be caused by the polyploidy (tri- and tetraploidy) of the cells. Another modus to acquire additional copies of the BCR-ABL fusion gene is the formation of tandem repeats of the BCR-ABL hybrid as seen in CML cell line K-562. Both mechanisms, selective multiplication of the der(22) chromosome and tandem replication of the fusion gene BCR-ABL, presumably lead to enhanced levels of the fusion protein and its tyrosine kinase activity (genetic dosage effect). The availability of a panel of Ph + cell lines as highly informative leukemia models offers the unique opportunity to analyze the pathobiology of these malignancies and the role of the Ph chromosome in leukemogenesis.

Adult↗

PubMed2000

Comparison of comparative genomic hybridization and interphase fluorescence in situ hybridization in ovarian carcinomas: possibilities and limitations of both techniques.

Comparative genomic hybridization (CGH) is a valuable technique for cytogenetic analysis of solid tumors. To evaluate the reliability of CGH, we examined DNA of 10 ovarian carcinomas after CGH analysis with single- and double-locus fluorescence in situ hybridization (FISH). The FISH experiments, involving 5 chromosomes (chromosomes 3, 6, 8, 12, and 18) with different FISH probes, confirmed the CGH results in 66.2% of cases (92 of 139 investigated loci). In 4 patients, inconsistent results (41 loci) were related to polyploidy, because CGH cannot detect polyploid karyotypes. The remaining 6 discordant loci can be referred to limitations in both techniques. Re-evaluation of FISH and CGH results by one other is therefore recommended to overcome these technical artifacts. Nevertheless, CGH is of potential value in characterizing chromosomal alterations and might help in generating tumor-specific sets of FISH probes to obtain genetic information of prognostic value within a few days.

Chromosomes, Human↗

PubMed2001

Chromosomal analyses of 52 cases of follicular lymphoma with t(14;18), including blastic/blastoid variant.

We have identified 52 patients of follicular lymphoma (FL) with t(14;18)(q32;q21). Histologically, the lymphomas were placed into six groups according to their cellular composition and growth pattern. Chromosome analysis revealed that all cases but one had additional secondary chromosomal abnormalities. The most frequent numerical aberrations were gains of chromosomes 7 (38%), X (36%), 5 (15%), 12 (15%), 18/der(18)t(14;18) (25%), and 21 (15%). Structural abnormalities of chromosome 1 were seen in 19 tumors (36%) affecting both arms with breakpoints clustered at 1p36. Other structural abnormalities included partial deletions of 6q, 10q, and 13q. Breakpoint at 8q24 was seen in four cases. The chromosome aberrations were correlated with the morphological subtypes of follicular lymphoma. Gain of chromosome 7 appeared to be associated with follicular large cell lymphoma. The incidence of trisomy 5 and 12, and 13q- was higher in follicular lymphoma with aggressive histological features than in low-grade lymphoma. In addition, complexity of the karyotype and high degree of polyploidy increased with the grade. The most valuable cytogenetic markers in the t(14;18) lymphomas are those involving 8q24 which was found exclusively in the blastic/blastoid variant FL. Therefore, chromosome analysis in relation to histologic pattern of follicular lymphoma can provide additional information in predicting tumor evolution and transformation to a higher-grade malignancy.

Adult↗

PubMed2001

Characteristics of chromosome instability in the human lymphoblast cell line WTK1.

The characteristics of spontaneous and radiation-induced chromosome instability were determined in each of 50 individual clones isolated from control populations of human lymphoblasts (WTK1), as well as from populations of these cells previously exposed to two different types of ionizing radiation, Fe-56 and Cs-137. The types of chromosome instability did not appear to change in clones surviving radiation exposure. Aneuploidy, polyploidy, chromosome dicentrics and translocations, and chromatid breaks and gaps were found in both control and irradiated clones. The primary effect of radiation exposure was to increase the number of cells within any one clone that had chromosome alterations. Chromosome instability was associated with telomere shortening and elevated levels of apoptosis. The results suggest that the proximal cause of chromosome instability is telomere shortening.

Aneuploidy↗

PubMed2002

The origin of transformed cells. studies of spontaneous and induced cell transformation in cell cultures from marsupials, a snail, and human amniocytes.

Transformation of cells in culture is a model system for carcinogenesis, and two major theories (i.e., mutagenesis and aneuploidy) have emerged from in vitro and in vivo studies. A third view is presented here on the initial steps in the change of primary cells to extended life cells, and their change to immortalized cells. Both changes involve identical, microscopically visible cell abnormalities hitherto dismissed as cell degenerative characteristics. The major cell changes (i.e., giant cells, nuclear fragmentation to form multinucleated cells [MNC]) translated into genetic terms begin with the creation of polyploidy by DNA endoreduplication, followed by amitotic division of these giant cells to produce MNC. Individual nuclei, surrounded by a cell membrane, bud from the surface of the MNC, and represent the origin of the transformed cells. Induced budding by a protease treatment of MNC suggests that the extracellular matrix is an inhibitor of the budding process from human MNC. The production of the MNC is a genetic process determined by two abnormal events (i.e., overproduction of DNA and amitotic chromosomal segregation) during which there are possibilities for different genetic mechanisms to produce inherited variability within and between MNC. These concepts are discussed in regard to carcinogenesis, and by extension its possible prevention by use of the special cytopathic cell changes in carcinogen testing and in clinical screening programs.

Animals↗

PubMed2004

Secondary chromosomal changes in 34 Philadelphia-chromosome-positive chronic myelocytic leukemia patients from the Mexican West.

The clonal evolution in t(9;22)-positive chronic myelocytic leukemia (CML) is well established. Four major changes occur in more than 70% of patients: +8, i(17q), +19, and an extra Philadelphia chromosome. The frequencies of secondary chromosomal changes in 34 patients from the states of Jalisco, Nayarit, Michoacán, and Colima (the Mexican West) with Philadelphia-chromosome-positive CML were assessed. The most frequent abnormalities were tetraploidy (12 cases); +8, inv(3)(q21q26), and octoploidy (3 cases each); and +der(22)(2 cases). Some translocations not previously associated with CML were observed, such as t(2;7)(p12;q36), t(3;6)(q26;p25), t(3;17)(q26;p13), and t(6;17)(q21;q23 approximately q25). Significant differences were found for +8 with respect to population results from Japan and from southern, eastern, and western Europe; for i(17)(q10) from eastern Europe; for +19 from Japan and western Europe; and for +der(22) from Japan, southern Europe, and western Europe. Although polyploidy could result from endomitosis, there is no direct evidence that the BCR/ABL protein influences such a process; however, protein kinases such as MAPK, which are involved in endomitosis, are activated by the BCR/ABL protein, and so the BCR/ABL protein could promote endomitosis through the MAPK pathway.

Adolescent↗

PubMed1997

Assessment of chromosome 3 copy number in ocular melanoma using fluorescence in situ hybridization.

Recent reports have indicated that monosomy 3 is a marker of poor prognosis in uveal melanoma. Fluorescence in situ hybridization (FISH) was performed on fresh touch preparations from 17 uveal, and 5 conjunctival melanomas, using the chromosome 3 centromeric probe, D3Z1. Of the 17 uveal melanomas, all of which originated in the choroid, two cases revealed a monosomy of chromosome 3. One of the conjunctival melanomas contained a major clone that was trisomic for chromosome 3, and another conjunctival melanoma contained a tetrasomic population. FISH, using the alpha-satellite probe for chromosome 3 on uveal melanoma imprints, allows one to predict which patients are potentially at a higher risk of relapse. Multiplication, rather than deletion, of copies of chromosome 3 in conjunctival melanomas may be a nonspecific aberration, perhaps indicative of polyploidy, a characteristic of tumor progression.

Adult↗