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PubMedDate not supplied

Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma.

Loss of genes at specific chromosomal loci is a characteristic of retinoblastoma, Wilms' tumour, transitional cell carcinoma of the bladder, embryonal tumours and small cell carcinoma of the lung. The significance of nonrandom gene loss in these neoplasms is that gene loss on one chromosome may uncover null mutations at corresponding loci of the homologous chromosome. Loss of specific gene products from somatic cells may be critical in the origin or evolution of certain human tumours. Clues to identification of new loci of gene loss in common adult solid tumours may be found in literature that describes chromosomal abnormalities in rare heritable cancers. Karyotypes of tumours in two families with hereditary renal carcinoma showed translocations involving the short arm of chromosome 3 (refs 10 and 11). We have examined tumours from 18 patients with non-hereditary renal cell carcinomas and found loss of alleles at loci on the short arm of chromosome 3 in all eleven of the patients who could be evaluated.

Adult↗
PubMed2003

Survival implications of molecular heterogeneity in variant Philadelphia-positive chronic myeloid leukaemia.

The BCR-ABL fusion in chronic myeloid leukaemia (CML) is generated by the Philadelphia (Ph) translocation t(9;22) or, in 10% of patients, variants thereof (vPh). Deletion encompassing the reciprocal product (ABL-BCR) from the derivative chromosome 9 [der(9)] occurs in 15% of all patients, but with greater frequency in vPh patients. Reports of physical separation of ABL-BCR in non-deleted patients, as well as evolution from classical to variant Ph, introduce further heterogeneity to the vPh subgroup and raise the possibility that such translocations may herald disease progression. Survival analyses, however, have thus far yielded contradictory results. We assessed the frequency of der(9) deletions, ABL-BCR abrogation, cytogenetic evolution and cryptic rearrangement in a large cohort of 54 patients with vPh CML. Deletions encompassing ABL-BCR were detected in 37% of patients, consistent with a model in which a greater number of chromosome breaks increases the risk of genomic loss. The components of ABL-BCR were physically separated in a further 52% of patients while fused in the remaining 11%. Evolution from classical to vPh was demonstrated in three patients. The difference in survival, as indicated by Kaplan-Meier analysis, was marked between classical and vPh patients (105 vs 60 months respectively; P = 0.0002). Importantly, this difference disappeared when patients with deletions were removed from the analysis. Our study showed that, despite the existence of several levels of genomic heterogeneity in variant Ph-positive CML, der(9) deletion status is the key prognostic factor.

Chromosomes, Human, Pair 9↗
PubMed1983

Evolution of chromosomal regions containing transfected and amplified dihydrofolate reductase sequences.

A modular dihydrofolate reductase gene has been introduced into Chinese hamster ovary cells lacking dihydrofolate reductase. Clones capable of growth in the absence of added nucleosides contain one to five copies of the plasmid DNA integrated into the host genome. Upon stepwise selection to increasing methotrexate concentrations, cells are obtained which have amplified the transforming DNA over several hundredfold. A detailed analysis of the chromosomes in three clones indicated the appearance of cytologically distinct chromosomal regions containing the amplified plasmid DNA which differ in surrounding sequence composition, structure, and location. Two of the clones examined have extensive, homogeneously staining regions. The DNA in these homogeneously staining regions replicates in the early part of the S phase. The amplified plasmid DNA is found associated at or near the ends of chromosomes or on dicentric chromosomes. We propose that integration of DNA may disrupt telomeric structures and facilitate the formation of dicentric chromosomes, which may then undergo bridge breakage-fusion cycles. These phenomena are discussed in relation to DNA transfer experiments and modes of gene amplification and chromosome rearrangement.

Animals↗
PubMed2001

Classifying by colors: FISH-based genome analysis.

In recent years a fascinating evolution of different multicolor fluorescence in situ hybridization (FISH) technologies could be witnessed. The various approaches to cohybridize multiple DNA probes in different colors opened new avenues for FISH-based automated karyotyping or the simultaneous analysis of multiple defined regions within the genome. These developments had a remarkable impact on microscopy design and the usage of highly sensitive area imagers. In addition, they led to the introduction of new fluorochromes with appropriate filter combinations, refinements of hybridization protocols, novel probe sets, and innovative software for automated chromosome analysis. This paper attempts to summarize the various multicolor approaches and discusses the application of the individual technologies.

Animals↗
PubMed1984

[Characteristics of clonal evolution in patients with myelocytic leukemia].

The authors report the results of the clinical, cytochemical, cytogenetic and kinetic studies (3H-thymidine autoradiography and scanning integrating cytospectrophotometry of DNA) in a male patient with chronic myeloleukemia with blast infiltration of the lymph nodes. Analysis of the karyotype and kinetic aspects of leukemic cells obtained from the blood, bone marrow, spleen and hyperplastic lymph nodes was performed over time at different disease periods. Based on the data obtained the authors suggest that aneuploid blasts may maturate before segmented granulocytes. The probability of the medullary origin of aneuploid clones is discussed.

Bone Marrow↗
PubMed2005

Chromosomal region 13q21q31 and heterochrony of development.

If the theory of evolution is now largely accepted, there are still many debates on the mechanisms of evolution, including human evolution. One of these mechanisms is heterochrony of development including progenesis and neoteny. We report on a patient who could be an example of human progenesis. This boy was born prematurely, after a cesarian section for preeclampsia. Family history was unremarkable. He walked unaided when he was 2.5 years old. At 5 years of age height was 95 cm (< 3rd centile), weight 18.6 kg (40th centile) and OFC 54 cm (98th centile is 53 cm). He had a macropenis. He attended elementary school. However, at 9 years of age he had to have special education. Puberty occurred when he was 8 years old. At 14 years of age height was 141 cm (3rd centile is 144 cm), weight 32.5 kg (3rd centile) and OFC 55.5 cm (75th centile). At physical examination he had hypertelorism, narrow forehead, short philtrum, retromicrognathia, large and low set ears, hyperlaxity, overcrowed teeth, dorsal kyphosis, and macropenis. Karyotype showed a deletion 13q21q31. The deletion was de novo and pure. In conclusion this case with sexual precocity and small final stature could be an example of progenesis, rising the question of the presence of a critical region for human evolution within chromosomal region 13q21q31.

Biological Evolution↗
PubMed1995

Twenty-three cases of acute lymphoblastic leukemia with translocation t(4;11)(q21;q23): the implication of additional chromosomal aberrations.

The translocation t(4;11)(q21;q23) is one of the most common specific chromosomal aberrations in acute lymphoblastic leukemia (ALL), occurring in 2% of childhood and in 5-6% of adult cases. Especially in adults, the t(4;11) is associated with a poor prognosis. In order to determine the significance of clonal chromosome aberrations that occur in addition to t(4;11), we studied the karyotypes and clinical courses of 23 patients with acute lymphoblastic leukemia and a translocation t(4;11)(q21;q23). Additional clonal chromosome aberrations were found in ten patients. An isochromosome i(7)(q10) and a trisomy 6 were observed most frequently as secondary anomalies. Clonal evolution was detected in four of six patients analyzed at diagnosis as well as at relapse. With treatment carried out according to modern risk-adapted therapy protocols, no difference in outcome was observed between patients with clonal chromosome aberrations in addition to t(4;11) at diagnosis and those without.

Adolescent↗
PubMedDate not supplied

[Association of the cytogenetic pattern and latero-cervical metastasis of laryngeal cancer].

Although solid tumors, in particular carcinomas, play a much larger part in human morbidity and mortality than hematological neoplasias do, much less is known about the cytogenetic abnormalities that characterize them. Numerous classification schemes have been used in the subdivision of human tumors. Most often the tumors are classified according to the presumed cell of origin (epithelial, mesenchymal, neurogenic or germ cell tumors), their benignity or malignancy, differentiation features and histological growth pattern or anatomical site or organ of origin. In the following discussion, we analyse 12 cases of squamous cell carcinoma of the larynx. All teh sample were karyotyped using a direct chromosome analysis method. The method reported was highly successful and in several types of tumors showed the possibility of obtaining good banded metaphases. The purpose of this research was to attempt to define the chromosomal pattern of laryngeal carcinomas and, consequently, to correlated, it to histological grading and clinical evolution. In all the cases studied we found several chromosomal anomalies. In five of them clonal anomalies, such as the loss of chromosome 4; Robertsonian translocation t(13,14); rearrangement of chromosome 1 and chromosome 17 and the presence of similar markers, were observed. The characterization of the markers was made with an IN SITU hybridization technique using specific probes, followed also in order to define two particular markers involving chromosome 1 and t(13,14). We did not reveal a correlation between histological grading and karyotype, but we did find a correlation between tumor ploidy and latero-cervical metastases. The most important result seems to correlate the presence of latero-cervical metastases with a hypodiploid cell line (with less than 46 chromosomes) in the primary tumor. This could be an index of the ability of the tumor to invade the latero-cervical lymph nodes. If this correlation is confirmed, conservative neck dissection could be limited to N0 patients with a hypodiploid pattern. In conclusion, we feel that, if confirmed, the results of this research, may be widely applied in clinical medicine.

Carcinoma, Squamous Cell↗
PubMed1976

Evolution of Hawaiian drosophilidae. II. Patterns and rates of chromosome evolution in an antopocerus phylogeny.

The phylogenetic relationships of seven species of the genus Antopocerus (Family Drosophilidae) have been determined by means of a study of the metaphase configurations and polytene chromosomes. Based on biogeographical, behavioral and cytogenetic information A. longiseta from Molokai is tentatively identified as the primitive species of the genus. The metaphase karyotypes of all Antopocerus species are either five pairs of rod chromosomes and a pair of dots (5R1D), or six rods (6R). Heterochromatin additions converted the dots to rods. Chromosome breakpoints for inversions also are clustered at heterochromatic loci. The chromosome segments between heterochromatic loci may represent sets of functionally related loci, evolving as a unit. The rate of chromosomal inversion substitution is estimated in the origin of the taxon (probably a subgenus of Drosophila rather than a separate genus). It averages no greater than one substitution per 1,000 years, or one per 5,000 generations. The average genetic death rate per generation of one individual per hundred is required to achieve this substitution rate. The rate of inversion substitution during radiation of this taxon may be only 4.4 X 10(-3) times as fast as that present in forming the taxon. Alternatively, radiation may have required only 250,000 years if rates of substitution are the same as in the origination of the taxon. Average rates of substitution reflect genetic accidents, selection pressures and rates of adaptation to new niches, as well as the rate of encountering new niches. Rate of adaptation probably is much greater in this instance than rate of encountering new niches. Rate of adaptation probably is much greater in this instance than rate of encountering new niches. Therefore, the average rate of evolution reflects more nearly biogeographic and ecological factors than genetic factors.

Animals↗
PubMed1995

Prediction of 18-month survival in patients with primary myelodysplastic syndrome. A regression model and scoring system based on the combination of chromosome findings and the Bournemouth score.

The predictive potential of six selected factors was assessed in 72 patients with primary myelodysplastic syndrome using univariate and multivariate logistic regression analysis of survival at 18 months. Factors were age (above median of 69 years), dysplastic features in the three myeloid bone marrow cell lineages, presence of chromosome defects, all metaphases abnormal, double or complex chromosome defects (C23), and a Bournemouth score of 2, 3, or 4 (B234). In the multivariate approach, B234 and C23 proved to be significantly associated with a reduction in the survival probability. The similarity of the regression coefficients associated with these two factors means that they have about the same weight. Consequently, the model was simplified by counting the number of factors (0, 1, or 2) present in each patient, thus generating a scoring system called the Lausanne-Bournemouth score (LB score). The LB score combines the well-recognized and easy-to-use Bournemouth score (B score) with the chromosome defect complexity, C23 constituting an additional indicator of patient outcome. The predicted risk of death within 18 months calculated from the model is as follows: 7.1% (confidence interval: 1.7-24.8) for patients with an LB score of 0, 60.1% (44.7-73.8) for an LB score of 1, and 96.8% (84.5-99.4) for an LB score of 2. The scoring system presented here has several interesting features. The LB score may improve the predictive value of the B score, as it is able to recognize two prognostic groups in the intermediate risk category of patients with B scores of 2 or 3. It has also the ability to identify two distinct prognostic subclasses among RAEB and possibly CMML patients. In addition to its above-described usefulness in the prognostic evaluation, the LB score may bring new insights into the understanding of evolution patterns in MDS. We used the combination of the B score and chromosome complexity to define four classes which may be considered four possible states of myelodysplasia and which describe two distinct evolutional pathways.

Chromosomes, Human↗
PubMed2004

Multicolor chromosome painting in diagnostic and research applications.

For many years whole chromosome painting probes have been the work-horses in a large variety of clinical and research molecular cytogenetic applications. In recent years painting probes have been complemented by an increasing number of further region-specific probes, which allow the specific staining of centromeres, subtelomeres or other regions within the genome. This development of new probe sets was greatly facilitated by the Human Genome Project from which well-characterized probes for any region within the genome have emerged. Furthermore, the evolution of different multicolor fluorescence in situ hybridization (FISH) technologies now allows the cohybridization of multiple DNA-probes of different colors. These developments have paved the way for FISH-based automated karyotyping or the simultaneous analysis of multiple defined regions within the genome. Using appropriate instrumentation and image processing, the analysis can be performed two-dimensionally on metaphase spreads or three-dimensionally in intact interphase nuclei. Here we summarize some of the most recent developments and discuss the application of painting probes in different scenarios.

Animals↗
PubMed1976

Chromosome banding pattern relationships of hares, rabbits, and pikas (order Lagomorpha). A phyletic interpretation.

The chromosome banding patterns of the domestic rabbit, Oryctolagus cuniculus, the brush rabbit, Sylvilagus bachmani, and the snowshoe hare, Lepus americanus, are nearly identical except for minor differences in the amount of constitutive heterochromatin present. The major mechanisms of chromosome evolution in leporid lagomorphs are centric fusion and addition of heterochromatin. The G- and C-banding patterns of the pika, Ochotona princeps, revealed little easily recognized structural homology with the leporid species. Several tentative banding pattern matches were found for segments of some chromosomes of Ochotona, indicating that tandem fusions may have been responsible for structural modification of the early lagomorph genome. Chromosome evolution in the lagomorphs and the use of chromosomal data in studies of mammalian systematics are discussed.

Animals↗
PubMed1986

Sex chromosome-autosome translocations in the leaf-nosed bats, family Phyllostomidae. I. Mitotic analyses of the subfamilies Stenodermatinae and Phyllostominae.

Mitotic analyses using RBA- and C-banding were performed on Stenodermatine bats with X-autosome (XY1Y2) and X- and Y- autosome (neo-XY) translocations. RBA-banded metaphases of females revealed differential replication of the inactive X chromosome. An early replicating band comprises the short arm of the X, and an intermediate replicating band is located interstitially on the long arm. The early replicating short arm has a homologous counterpart either in the form of a free autosome (the Y2) or as part of the Y. Both the "autosomal" short arm of the X and its homologue fused to the Y are C-band negative and behave autonomously from the remainder of the sex chromosomes. They are separated from X and Y chromatin by centromeric heterochromatin which presumably acts as a barrier. The intermediate replicating region of the long arm of the X is also present in the subfamily Phyllostominae. In both subfamilies this region lacks a homologous counterpart. However, it may also represent a translocated autosome which, unlike the short arm of the X, is not separated from the inactive X by centromeric heterochromatin. Its intermediate replication time may represent a retarded replication due to its juxtaposition to late replicating X chromatin. These data are discussed in light of the theory of the evolution of sex chromosome heteromorphism, specifically as it applies to mammals.

Animals↗