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We report the clinical, cytogenetic, fluorescence in situ hybridization (FISH) and molecular findings in a 54-yr-old male patient diagnosed with B-cell chronic lymphocytic leukemia (B-CLL), who showed progression to a diffuse large B-cell lymphoma (Richter's syndrome). Genetic studies were performed at diagnosis and during the Richter's transformation (RT). A clonal karyotype with two dicentric chromosomes, psu dic(12,21)(q24;q10) and dic(17,18)(p11.2;p11.2), was found. Both rearrangements were confirmed by FISH. Molecular cytogenetics analysis using p53 probe showed monoallelic loss of this tumor suppressor gene in 43.8% and 77.3% of cells for the first and the second studies, respectively). In both studies, deletions of D13S319 (18% and 12% of cells) and D13S25 loci (13% and 12% of cells) at 13q14 were found. Polymerase chain reaction analysis showed the MBR/JH rearrangement of the bcl-2 gene. FISH studies using LSI bcl-2/IgH probe allowed quantifying the clonal cell population with this rearrangement (4% and 6.6% of cells at diagnosis and RT, respectively). To our knowledge, this is the first case with a psu dic(12,21) described in B-CLL. The low percentage of cells with the 13q14 deletion and bcl-2/IgH rearrangement suggests that they were secondary events that resulted from clonal evolution. Our patient had a short survival (9 months) and a clear lack of response to several therapeutic agents, confirming the association of p53 gene deletion and karyotypic evolution with disease progression.
The karyotype of Oreochromis species is considered to be highly conserved, with a diploid chromosome complement of 2n = 44. Here we show, by analysis of mitotic and meiotic chromosomes, that the karyotype of O. karongae, one of the Lake Malawi 'chambo' species, is 2n = 38. This difference in chromosome number does not prevent the production of inter-specific hybrids between O. niloticus (2n = 44) and O. karongae (2n = 38). Analysis of the meiotic chromosomes of the O. niloticus x O. karongae hybrids indicates that three separate chromosome fusion events have occurred in O. karongae. Comparison of the O. karongae and O. niloticus karyotypes suggests that these consist of one Robertsonian fusion and two fusions of a more complex nature.
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The karyological relationship and organization of highly repetitive DNA sequences in Japanese shrew-moles were studied by zoo-blot hybridization and fluorescence in situ hybridization (FISH). When the genomic DNA of the eastern race of Urotrichus talpoides was digested with PstI, three fragments of highly repetitive DNA sequences, approximately 0.7, 0.9, and 1.4 kb in length, were observed as distinct bands. The results of FISH in the eastern race of U. talpoides using these three fragments separately as probes showed that the 0.7-kb PstI fragment was distributed in the centromeric regions of most chromosomes, and that the 0.9- and 1.4-kb fragments were predominantly located in the C-heterochromatin region of chromosome 13p. Although the western race of U. talpoides also had three PstI fragments, 0.9- and 1.4-kb PstI fragments were more ambiguous than those of the eastern race. The PstI- digested genomic DNA in Dymecodonpilirostris produced only a faint 0.9-kb band, and its signal patterns obtained by zoo-blot hybridization were clearly different from those of U. talpoides. The 0.7-kb fragment of U. talpoides hybridized strongly with the 0.9-kb fragment of D. pilirostris. In a FISH analysis, the 0.9-kb fragment of D. pilirostris hybridized with highly repetitive DNA in the centromeric regions of most chromosomes from both D. pilirostris and U. talpoides. Zoo-blot hybridization and FISH analyses suggest that the 0.9- and 1.4-kb PstI fragments were generated specifically in the genome of U. talpoides after the common ancestor differentiated into two extant shrew-mole species. A difference in the length of the centromeric elements between U. talpoides and D. pilirostris might be observed due to certain modifications of the repeating unit.
Nuclear DNA contents, automated karyotype analyses, and sequences of rDNA spacers have been determined for the species of Vicia belonging to sect. Peregrinae, as well as for V. mollis. The phylogenetic data generated from the comparison of rDNA sequences and karyomorphological results would both indicate that Vicia mollis is a sister group to sect. Peregrinae. The relationships among the species belonging to the Peregrinae section and species enclosed in sections Faba, Narbonensis, and Bithynicae have been also investigated: a clade including V. mollis and sect. Peregrinae is a sister group to a clade including V. bithynica and sect. Narbonensis. With our choice of outgroup, Vicia faba (including subsp. paucijuga) is external to the above mentioned inclusive group.
Astyanax scabripinnis has been considered a species complex because it presents high karyotypic and morphological variability among its populations. In this work, individuals of two A. scabripinnis populations from different streams in the same hydrographic basin were analyzed through C-banding and AgNOR. Although they present distinct diploid numbers, they show meta and submetacentric chromosome groups highly conserved (numerically and morphologically). Other chromosomal characteristics are also shared by both populations, as the pattern of constitutive heterochromatin distribution (large blocks in the telomeric regions of subtelocentric and acrocentric chromosomes) and some nucleolar chromosomes. Inter-individual variations both in the number and size of heterochromatic blocks, and in the number and localization of NORs were verified in the studied populations, characterizing them as polymorphics for these regions. The mechanisms involved in the dispersion of heterochromatin and NORs through the karyotypes, as well as the possible events related to the generation of polymorphism of those regions are discussed. Furthermore, relationships between these populations and within the context of the scabripinnis complex are also approached.
C-banded karyotypes, DNA content and the male meiiotic process of Triatoma platensis and Triatoma delpontei are compared with those of Triatoma infestans, the main vector of Chagas disease in South America. These three species present the same diploid chromosome number 2n = 22 (20 autosomes + XX male/XY female). They also have several cytogenetic traits that differ from all other triatomines: large autosomes, C-heterochromatic blocks and meiotic heteropycnotic chromocenters formed by autosomes and sex chromosomes. In spite of these similarities, each species presents different chromosomal behavior during male meiosis, distinct DNA content and a specific amount and localization of the C-heterochromatin. The differences in DNA content are mainly due to the variation in C-heterochromatin amount, which may be interpreted as loss and/or gain of C-regions. This interpretation is supported by the presence of meiotic and mitotic chromocenters that facilitate the transference of C-positive material. The cytogenetic data presented in this work suggest that T. infestans and T. platensis are more closely related to each other than to T. delpontei. It can also be inferred that the differences in distribution and amount of heterochromatin do not play a direct role in speciation in this group.
A woman with Philadelphia chromosome-positive c-ALL with +8 and i17q in addition underwent an unpurged blood stem cell autograft after 200mg/m2 melphalan in first relapse. Maintenance therapy with 6-mercatopurine was started following the autograft. Moderate pancytopenia developed after 4 months, and myelodysplasia (refractory anemia) was diagnosed which rapidly evolved into AML. The cytogenetic findings remained unchanged. She also developed CNS disease, but the blasts in the cerebrospinal fluid were lymphoid in character on immunophenotyping. She then received palliative treatment until death. The remarkable features here are the evolution into myelodysplasia and AML with retention of the original complex karyotype, and subsequent coexistence of lymphoid disease in the CNS and myeloid disease systemically. It is possible that the lineage switch and development of myelodysplasia in this case may have been secondary to treatment, but persistence of the original cytogenetic clone makes this unlikely. This may have been the result of some unusual effect of the treatment on the original clone, or expansion of a small unidentified myeloid clone present originally which gained a proliferative advantage due to the ALL-type treatment. This case confirms the aggressive and polymorphic nature of Ph+ ALL which may be the result of origin from an early progenitor cell (stem cell disease).
It has been suggested that the chromosome set of the Indian muntjac, Muntiacus muntjak vaginalis (female, 2n = 6; male, 2n = 7), evolved from small acrocentric chromosomes, such as those found in the complement of the Chinese muntjac, M. reevesi (2n = 46), by a series of tandem fusions and other rearrangements. The location of the highly conserved human telomeric sequence (TTAGGG)n in the metaphase chromosomes of M.m. vaginalis and its close relative, M. reevesi, was investigated by non-radioactive in situ hybridization. The (TTAGGG)n repeat was found adjacent to the centromeres in the short arm and at the telomeres in the long arm of M. reevesi acrocentric metaphase chromosomes. Tandem fusions present in the karyotype of M.m. vaginalis chromosomes were not reflected by interstitial signals of the telomere repeat, as these chromosomes displayed hybridization signals only at the ends of the chromatids. Mechanisms that might have played a role in the evolution of the reduced karyotype of the Indian muntjac are discussed.
The chromosomal localization of 28S rDNA was investigated in 16 speices of the Australian ant genus Myrmecia, with 2n numbers ranging from 4 to 76, using the fluorescence in situ hybridization method and karyographic analysis. A unique phenomenon was observed: the number of chromosomes carrying 28S rDNA increases from 2 in species with low chromosome numbers to 19 in species with high chromosome numbers. This is termed rDNA dispersion. Centric fission and a reciprocal translocation that occurs in C-bands were detected as the major mechanisms involved in rDNA dispersion.
The distribution of the vertebrate telomeric sequence (TTAGGG)(n) in four species of armadillos (Dasypodidae, Xenarthra), i.e. Chaetophractus villosus (2n = 60), Chaetophractus vellerosus (2n = 62), Dasypus hybridus (2n = 64) and Zaedyus pichiy (2n = 62) was examined by FISH with a peptide nucleic acid (PNA) probe. Besides the expected telomeric hybridization, interstitial (centromeric) locations of the (TTAGGG)n sequence were observed in one chromosome pair of Chaetophractus vellerosus and Zaedyus pichiy, suggesting chromosome fusion of ancestral chromosomes occurring during the evolution of Dasypodidae. In addition, all the species analysed showed one to four apparently telocentric chromosomes, exhibiting only two telomeric signals. However, the immunodetection study of kinetochore proteins on synaptonemal complex spreads from C. villosus showed that the apparently telocentric chromosomes have a tiny short arm that can be resolved only in the more elongated pachytene bivalents. This finding suggests that none of the species of armadillos possess true telocentric chromosomes. Our present results support a reduction in the diploid number by fusion of acrocentrics with loss of chromosome material as a tendency in Dasypodidae.
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Comparative analysis was undertaken of the pattern of G-dyed chromosome sets of three Ellobius species: E. tancrei, E. fuscocapillus, E. lutescens with respective diploid chromosome numbers 54, 36, 17. From the data obtained one can envisage probable evolutionary pathway of the Ellobius karyotype. Variability in chromosome numbers of this genus species was shown to be a result of both centromeric and centromeric-telomeric as well as telomeric translocations of originally acrocentric chromosomes. No combinations of acrocentric chromosomes of the E. tancrei Robertsonian fan were found in the karyotypes of E. fuscocapillus and E. lutescens, which points to independence of the evolutionary processes in the Ellobius genus taking different routes. The data are obtained to the effect that evolution of the genus Ellobius was accompanied by increase in the amount of C-heterochromatin.
We have tested the tandem fusion hypothesis of the origin of the Indian muntjac karyotype (2n = 6/7) by using reciprocal chromosome painting between the Indian muntjac, Chinese muntjac (n = 46) and brown brocket deer (2n = 70 + 3B) with chromosome-specific paint probes derived from flow-sorted chromosomes of these three deer species. Our results have shown that the euchromatic blocks of all chromosome arms of the brown brocket deer have been conserved apparently unchanged in number and content in the Indian muntjac. While confirming the conservation in toto of most of Chinese muntjac euchromatin in the karyotype of the Indian muntjac, we demonstrate that the synteny of chromosomes 1, 2, 3, 4 and 5 of the Chinese muntjac has been disrupted by chromosome rearrangements other than fusions. This indicates that the present karyotype of the Indian muntjac cannot be reconstructed from the hypothetical Chinese muntjac-like 2n = 46 ancestral karyotype exclusively by chromosome fusions. Furthermore, we have shown that the breakpoints of these rearrangements appear to have occurred near to the fusion points formed during the origin of the 2n = 46 karyotype of the Chinese muntjac from a 2n = 70 karyotype, which is believed to be ancestral for the family Cervidae. Moreover, we substantiate that on the Indian muntjac chromosomes, the C5 probe, which is derived from the centromeric satellite sequences of the Chinese muntjac, maps to the putative fusion points determined by comparative chromosome painting and presumably represents the remnants of ancestral centromeric sequences.
We studied the karyotypes of four different mammary carcinoma cell lines derived from a medroxy-progesterone acetate (MPA)-induced mouse mammary carcinoma using G-banding and fluorescence in situ hybridization. All the cell lines showed the same four marker chromosomes (M1-M4) as the parental tumor and also acquired new markers. M1 and M2 are Robertsonian translocations between chromosomes 1 and 10 and 2 and 17. M3 is an acrocentric marker derived from chromosomes 4, 5, and 12; M4 is derived from chromosomes 6 and 8. The parental tumor disclosed a modal number of 39, with a trisomy of chromosomes 3, 4, 10, and 11 and monosomies of 9, 13, and 16. MC4-L1 and MC4-L3 lines had a chromosome number similar to that of the parental tumor in early passages, which increased to the triploid range in late passages. MC4-L5 showed a near-diploid modal number in both early and late passages. MC4-L2 cells had a high chromosome number even in early passages. To our knowledge, this is the first study in which a complete characterization of the cytogenetics of murine mammary carcinoma cell lines and of their parental tumor is described. No associations between changes in ploidy, invasiveness, or hormone dependence were found. Conversely, the presence of one exclusive marker chromosome, a translocation between chromosomes 1 and 18 (M5), in the most aggressive and in vivo hormone-independent line suggests that this rearrangement may be associated with these biologic features. The constant presence of common marker chromosomes in both the parental tumor and the derived cell lines suggests that they are involved in the maintenance of this tumor phenotype.
Ag-NOR staining and fluorescence in situ hybridization with rDNA probes showed an unusually high number of NORs in the Indian pygmy field mice, Mus booduga and the M. terricolor complex. The chromosomal location of the NORs was also altered in terricolor, they were shifted from the proximal regions of the long arms to the tips of the perceptible heterochromatic short arms of the acrocentric autosomes. The results suggested dispersion of the NORs in the booduga-terricolor lineage probably by transposition, and relocalization of the NORs in the terricolor complex by centric reorganization during the process of replacement of the Mus musculus-related AT-rich heterochromatin with the terricolor-specific heterochromatin.