0000000000117603
AUTHOR
P. Carbone
Chromosomal abnormalities in Waldenström's macroglobulinemia
We report the results of cytogenetic studies of direct bone marrow (BM) preparations and of short-term BM and peripheral blood (PB) cultures from 17 patients with Waldenström's macroglobulinemia. We noted clonal chromosome changes in 10 patients. Abnormalities affected chromosomes X, Y, 2, 4, 5, 15, 16, 18, 19, 20, 21, and 22; in particular, chromosomes 2, 4, and 5 were involved in structural changes: a homogeneously staining region [hsr(2)], a der(4)t(4;?)(q32;?), and a 5q+. The other chromosomes were involved in numerical abnormalities, such as pseudodiploidy (a 46,X,-X,+15 clone), loss of chromosome Y, and monosomy of chromosomes 16, 18, 19, 20, 21, and 22. Nonclonal chromosome rearrange…
Possible involvement of the IL4 gene in Waldenström's macroglobulinemia
Abstract We report the results of a molecular investigation of 11 patients affected by Waldenstrom's macroglobulinemia, a rare B-cell malignancy characterized by an excessive proliferation of immunoglobulin(Ig)M-secreting plasmacytoid cells. In particular, we studied the interleukin-4 (IL4) gene, which codes for a B-specific growth factor capable of stimulating the proliferation and differentiation of secreting plasma cells. By Southern hybridization, in three patients we found the presence of additional bands in comparison with the expected pattern; moreover, these bands showed a different degree of intensity.
Cytogenetic findings in secondary acute nonlymphocytic leukemia
Abstract We here report the results of cytogenetic studies carried out in eight patients with acute nonlymphocytic leukemia developed after primary neoplasias. In seven of the reported cases, clonal chromosome aberrations were found, some being specific of de novo acute nonlymphocytic leukemia (ANLL). Numerical abnormalities were detected, such as the total monosomy of chromosomes 5, 7, 21, trisomy of chromosomes 8, 11, 15, and duplication of chromosome Y. Structural changes were also observed: a del(12)(p12), a del(16)(q22), the translocations t(3;5)(p21;q35),t(3;7)(p21;q35), and t(12;14)(p12;q32) and other changes involving chromosome 8. The finding of a hypertetraploid karyotype with com…
A new pericentric inv(8) in acute nonlymphocytic leukemia.
Abstract Chromosome studies were carried out on unstimulated bone marrow cells from a patient with a diagnosis of acute nonlymphocytic leukemia (FAB M6 ANLL). Cytogenetic analysis revealed a mosaic chromosome pattern 46,XX46,XX,inv(8)(p21q24). This pericentric inversion has not been previously described in ANLL. Because, fragile sites, zinc finger gene loci, and the MYC protooncogene have been localized to band 8q24, a putative role for these sites and genes could be considered.
Clastogenic and aneuploidizing effects of antiblastic busulphan revealed by kinetochore immunofluorescence in CHO cells.
We utilized, in CHO cells, the cytoplasm preservation technique to evaluate the micronucleus frequency at different busulphan concentrations, and the indirect immunofluorescence technique, using sera obtained from patients with scleroderma (CREST variant), to analyze if busulphan-induced micronuclei have kinetochores. Results show that this alkylating agent is capable of causing a significant increase of micronuclei in vitro, a great part (40%) of them having CREST-positive kinetochores. These findings confirm the clastogenic effect of busulphan and reveal a considerable capability of this agent to induce aneuploidy. These results are examined taking into account the high incidence of secon…
Inherited pericentric inversion of human chromosome 5.
Une inversion pericentrique heterozygote du chromosome 5 a ete decouverte dans les cellules de la moelle osseuse et dans les lymphocytes peripheriques stimules par le phytohemagglutinine d'une femme de 75 ans atteinte de myelofibrose et de metaplasie myeloide. L'inversion etait presente dans 100% des metaphases etudiees. Les points de cessure du chromosome 5 etaient localises en k15 et q10. Une etude de la famille est presentee
Amplification of ETS2 oncogene in acute nonlymphoblastic leukemia with t(6;21;18).
Cytogenetic and molecular studies in a case of acute nonlymphoblastic leukemia (ANLL) are reported in this paper. Bone marrow blasts carried a hypodiploid karyotype with a complex t(6;18;21)(6qter----6p21::21q22----21qter;18qter ----18p11::6p22----6pter; 21pter----21q22::6p21----6p22::18p11----18pte r) and other numerical and structural changes. We studied the organization and the expression of the ETS2 gene which is located on chromosome 21 in order to investigate its possible involvement in the disease. DNA analysis showed a 20-fold amplification of ETS2 sequences; an increase of 3- to 4-fold in the mRNAs level compared to normal was shown by Northern hybridization.
“Masked” Philadelphia chromosome resulting from a t(X;22) in chronic myeloid leukemia
Abstract A rare cytogenetic finding in chronic myeloid leukemia is reported. It consisted in a “masked” Philadelphia chromosome, resulting from an unusual translocation between chromosomes #22 and X. The t(X;22) was present in 100% of direct and cultured bone marrow cell preparations. Chromosome #9 did not seem to be involved in the formation of the Ph marker. Involvement of the X chromosome in karyotypic changes of hematologic diseases, with particular respect to chronic myeloid leukemia, is discussed.
Visual and Hearing Impairment Are Associated With Delirium in Hospitalized Patients: Results of a Multisite Prevalence Study
Objective: Sensory deficits are important risk factors for delirium but have been investigated in single-center studies and single clinical settings. This multicenter study aims to evaluate the association between hearing and visual impairment or bi-sensory impairment (visual and hearing impairment) and delirium. Design: Cross-sectional study nested in the 2017 "Delirium Day" project. Setting and participants: Patients 65 years and older admitted to acute hospital medical wards, emergency departments, rehabilitation wards, nursing homes, and hospices in Italy. Methods: Delirium was assessed with the 4AT (a short tool for delirium assessment) and sensory deficits with a clinical evaluation. …
Spontaneous Endoreduplication, Tetraploidy and Chromosome Breakage in Lymphocyte Cultures from Healthy Subjects
SUMMARY42,703 metaphases of peripheral lymphocytes from 20 healthy subjects (10 women and 10 men) were examined in order to establish the frequency of endoreduplicated cells and of tetraploid cells without diplochromosomes. Frequencies were found to be 0.016% and 0.112%, respectively. The two sexes did not differ as to the frequency of tetraploid cells, with and without diplochromosomes (about 0.13% in either sex). In a total of 2,135 well spread metaphases examined, 26 cells (i.e. 1.2%) with chromosomal breaks were found. Again, no significant differences between the two sexes were found as to such chromosome abnormalities.
.Chromosome sex determination and Y-autosome fusion in Blennius tentacularis Brunnich, 1765 (Pisces, Blennidae)
Diploid modal numbers of 2n=48 for females, and 2n=48 and 2n=47 for males of Blennius tentacularis caught in the Gulf of Palermo (Sicily) are established. Chromosome sex-determination is proposed for this species in which a Y-autosome fusion has been found.
Sister chromatid exchange in Waldenström's macroglobulinemia
Results on sister chromatid exchange (SCE) frequency and interchromosomal distribution in bone marrow and peripheral blood cultures from patients with Waldenström's macroglobulinemia are reported. PHA-stimulated bone marrow cultures showed increased SCE frequencies in all 12 patients examined. The increase was particularly high in two cases (17.07 and 16.77 SCE/cell, respectively) and, in one of them, a very high SCE level was found in PHA-stimulated peripheral blood culture (40.81 SCE/cell). In LPS-stimulated cultures, increased SCE levels were observed in some patients. Comparison between SCE frequency in bone marrow cell cultures with either mitogen showed a significant increase in PHA-s…