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Results for “CHROMOSOME ABNORMALITIES”

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At least 1,207 records · Page 67Linked to original sources
PubMed1997

Comparative genomic hybridization is a powerful tool, complementary to cytogenetics, to identify chromosomal abnormalities in childhood acute lymphoblastic leukaemia.

Cytogenetics has a strong prognostic value in childhood acute lymphoblastic leukaemia (ALL), but results are often incomplete because of the poor chromosome morphology. To improve this analysis, we tested comparative genomic hybridization (CGH) for the detection of chromosomal imbalances. 72 children were retrospectively analysed using CGH. Only 53% of the patients had been fully banded by standard methods. With CGH, 36 patients retained a normal chromosomal profile and 36 had unbalanced abnormalities. No amplification was detected. Fluorescence in situ hybridization (FISH) with centromeric and unique sequence probes was used in those cases with discrepancies or unsuccessful karyotype to validate CGH results. CGH enabled clear identification of unbalanced chromosomal abnormalities, even in some cases which had a normal karyotype. In view of the strong prognostic value of hyperdiploidy in childhood ALL, CGH appears to be a powerful technique, complementary to conventional cytogenetics.

Adolescent↗
PubMed1987

A myelodysplastic syndrome with marrow eosinophilia terminating in acute nonlymphocytic leukemia, associated with an abnormal chromosome 16.

A patient presented with a myelodysplastic syndrome and bone marrow eosinophilia that evolved six months later into an acute nonlymphocytic leukemia (ANLL). Cytogenetic analyses of the bone marrow revealed 86% of the metaphases with 45,X-Y,inv(16)(p13;q22),t(11;17) (q11;q25),del(21)(q13) and 14% of the metaphases with the same abnormalities but with a Y chromosome. The association of ANLL, bone marrow eosinophilia, and abnormal chromosome 16 has previously been reported and has been suggested to have a favorable prognosis. Our patient is unique in that ANLL was preceded by a preleukemic phase associated with bone marrow eosinophilia. When complete remission was achieved, the bone marrow cytogenetics returned to normal, and the eosinophilia disappeared.

Bone Marrow↗
PubMed1989

Clonal chromosome abnormalities in tumor cells from patients with sporadic renal cell carcinomas.

The karyotype of 75 sporadic, nonpapillary renal cell carcinomas was analyzed using chromosome banding techniques. Sixty-five tumors had near-diploid stemlines, and ten had near-triploid or near-tetraploid stemlines. Aberration of chromosome 3 was detected in 71 cases. The nonrandom changes on chromosome 3 were monosomy 3, terminal deletions, or unbalanced translocations; the 3p13-pter segment was identified as the minimal common deletion. The rearrangement of chromosome 3p was the only karyotype change in 13 tumors. Abnormalities of chromosome 5 resulting in trisomy for the 5q22-qter region were found in 36 cases, while the loss of 14q22-qter segment was observed in 34 tumors. Trisomy for chromosome 7 was detected in 17 cases, and monosomy 8 and 9 occurred 14 times each. Our data show that more than one specific chromosomal site may be involved in the development of human renal cell carcinomas.

Adult↗
PubMed1991

Clonal chromosome abnormalities and in vitro growth characteristics of classical and cellular schwannomas.

Cytogenetic analysis was performed on 12 schwannomas, 10 classical and two of the cellular type. Electron microscopic examination of cultured cells from two classical and two cellular schwannomas revealed features compatible with a Schwann cell differentiation. Immunohistochemical analysis of the cultures demonstrated immunoreactivity for S-100 protein in 6 of 6 cases and for vimentin in 2 of 2 cases of classical schwannoma, thus further supporting the authenticity of the cultured cells. Cultured cells from one cellular schwannoma also exhibited immunoreactivity for glial fibrillary acid protein (GFAP). Cytogenetic analysis of the 12 tumors revealed clonal abnormalities in 10 of the cases. In the majority of tumors, cells with a normal karyotype coexisted with different abnormal clones and sporadic deviations. Numerical changes predominated and were found in all tumors, while structural rearrangements were detected in eight tumors. The most common abnormality was clonal or sporadic loss of chromosome 22, which was found in all cases. Other clonal abnormalities included loss of one sex chromosome found in five cases, -15 found in three cases, and -12, +5, +7, +20 found in two cases each. These results provide further evidence in support of a role for loss of chromosome 22 in the pathogenesis of schwannomas. Our findings also indicate that there exist several different evolutionary pathways for schwannomas, and that some of these are shared by several other types of benign and malignant tumors of the nervous system.

Adult↗
PubMed2002

Unrelated clonal chromosome abnormalities in myelodysplastic syndromes and acute myeloid leukemias.

Most neoplasms are monoclonal and the tumor cells are believed to be the progeny of a single transformed cell. Clonality has been demonstrated by X-chromosomal enzymes, immunoglobulin and T-cell receptor gene rearrangements, or clonal cytogenetic abnormalities. Nevertheless, cytogenetically unrelated clones with disparate chromosome abnormalities are found infrequently in hematologic malignancies. We report four kinds of coexisting independent clones, +8/+21, der(1;7)/+8, del(9)/-X/i(Xq), and i(7p)/+11, respectively, which to our knowledge mostly have not been reported in same individuals, in two myelodysplastic syndrome and two acute myeloid leukemia cases.

Chromosome Aberrations↗
PubMed1977

Role of clozapine in the occurrence of chromosomal abnormalities in human bone-marrow cells in vivo and in cultured lymphocytes in vitro.

Bone-marrow chromosomes were examined from 38 mentally and physically retarded and two psychiatric patients who were being treated with a variety of neuropharmacologic drugs. Twenty of these patients used clozapine (Leponex). The clastogenic effects of clozapine in vitro were studied in the lymphocyte cultures of three patients--one free of hematologic disease and two who 6 months earlier had had agranulocytosis attributed to the use of clozapine. The mean frequency of cytogenetic abnormalities in the bone-marrow cells of patients who used clozapine was significantly increased (P less than 0.05). The two patients who had had agranulocytosis had a greater frequency of cytogenetic abnormalities in their cultured lymphocytes in vivo and in vitro than the patient free of hematologic disease. A clone with a 13/14 chromosome translocation was detected in one of the patients. As all patients received a number of drugs during the in vivo and in vitro studies no definite conclusions could be drawn regarding the role played by clozapine in the occurrence of chromosomal abnormalities.

Adolescent↗