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Query: UMLS:C0023418 (leukemia)
 93,477 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An isochromosome (17q) may be observed in myelo- and lymphoproliferative disorders, as well as in solid tumours and it is very frequent in Ph1-positive chronic myelocytic leukaemia (CML) during the blastic phase. A study on the mechanism of origin and on the centromeric function of the i(17q)s was performed by means of the C- and Cd-staining techniques in four CML patients. In all these cases, as well as in four others reported in the literature, the i(17q) is dicentric thus indicating that its origin is due to a break on the short arms followed by joining of the two chromatids containing the centromere. The Cd-technique indicates that one of the two centromeres is inactive: this result is consistent with the fact that the i(17q) in CML is a step in the clonal evolution towards the acute phase.
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PMID:The isochromosome (17q) in chronic myelocytic leukaemia: mechanism of origin, centromeric function and clonal evolution. 696 Oct 99

Among 165 human B-cell lines examined, 57 were found to have karyotypic abnormalities that involved chromosome breakage. The sites of breakage were identified with quinacrine-, Giemsa-, and reverse-banding techniques, and the distribution of 239 break points was plotted. A pronounced excess of telomeric and, to a lesser extent, centromeric breaks was observed. Chromosomes No. 7, 8, 9, 11, and 14 were involved in structural rearrangements more often and chromosomes No. 2, 5, 10, 20, and X less often than was predicted on the basis of their relative lengths. Lines derived from patients with different categories of disorders varied in the distribution of break points throughout the karyotype. In this sample of cell lines, No. 8q; 14q translocations were found only in cultures derived from patients with Burkitt's lymphoma and were never observed to arise among other Epstein-Barr virus-carrying lines even after several hundred cell generations in vitro. An additional feature, which was evidently restricted to lines derived from leukemia or lymphoma patients, was the presence of interstitial insertion, deletion, or reduplication, particularly involving the long arm of chromosome No. 1.
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PMID:Chromosome aberrations acquired in vitro by human B-cell lines. II. Distribution of break points. 696 23

Recurrent chromosome translocations involving 11p13 and 14q11 are found in 5-10% of cases of T-ALL. The gene involved in the translocation on chromosome 14 is the T cell antigen receptor alpha or delta. The putative oncogene on chromosome 11 is rhombotin 2 (RBTN2)/translocated in T cell gene 2 (ttg-2), a member of the LIM family of proteins. In this paper we characterize a cell line KOPT-K1 that has a t(11;14)(p13;q11). The breakpoint on chromosome 11 involves an Alu-rich region with the break occurring between two Alu sequences on chromosome 11. In addition, approximately 70 bases from the break on chromosome 11 is a tetranucleotide repeat. Whether either of these structures played a role in the translocation is not known. No heptamer or nonamer sequences, implicated in other rearrangements were found near the breakpoint. The breakpoint on chromosome 11 maps more centromeric than previous translocations of this region. Despite this the RBTN2 gene is highly expressed in KOPT-K1. This cell line will be useful for investigating the role of RBTN2 in leukemogenesis and the mechanism by which the translocation alters the expression of RBTN2.
Leukemia 1995 Nov
PMID:Molecular characterization of a chromosome translocation breakpoint t(11;14)(p13;q11) from the cell line KOPT-K1. 747 67

Trisomy 12 and a deletion of chromosome 13 are the most common chromosome abnormalities in patients with B cell chronic lymphocytic leukemia (B-CLL). We determined the frequencies of these abnormalities in Japanese B-CLL patients by FISH in interphase nuclei. Specimens from 42 patients were analyzed using both DNA probes specific to the centromeric region of chromosome 12 and the retinoblastoma (RB) gene. Among 42 patients, eight had trisomy 12 and 12 had the RB gene deletion. We found aberrations of trisomy 12 and the RB gene deletion in a totally different group of patients. This suggested that the trisomy 12 and the RB gene deletion occur in different clones and the presence of which in the same patient may be rare. Furthermore, the frequency of trisomy 12 (19%) found in Japanese B-CLL was lower than that in Western countries (30-35%). On the contrary, the frequency of the RB gene deletion (28.6%) was almost the same as in European B-CLL (30-35%). These results will be helpful in understanding the leukemogenesis of B-CLL.
Leukemia 1995 Nov
PMID:Independent clones of trisomy 12 and retinoblastoma gene deletion in Japanese B cell chronic lymphocytic leukemia, detected by fluorescence in situ hybridization. 747 69

Fluorescence in situ hybridization (FISH) is becoming increasingly used to detect chromosomal changes in cancer cytogenetics. Here, we report its use in human HL60 cells to detect aneuploidy induced by the benzene metabolite, 1,2,4-benzenetriol (BT). Human centromeric probes specific for chromosomes 9 and 7 were used. Untreated HL60 cells were 0.72 +/- 0.29% hyperdiploid for chromosome 9. Treatment with 5 microM BT increased this level 3-fold to 2.20 +/- 0.87% and 50 microM increased it 4-fold to 2.96 +/- 0.74%. Similar results were obtained with the chromosome 7 probe. The induction of aneuploidy by BT is therefore not chromosome-specific nor is it artifactual. Immunocytochemical staining with anti-tubulin antibodies also showed that BT disrupted microtubule organization at these concentrations. Thus, mitotic spindle disruption probably plays an important role in BT-induced aneuploidy. Trisomy and not tetrasomy accounted for the majority of the hyperdiploidy induced by BT in the two C-group chromosomes 7 and 9. Since trisomy of C-group chromosomes is commonly observed in leukemia, BT-induced aneuploidy may be involved in benzene-induced leukemia.
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PMID:Detection of 1,2,4-benzenetriol induced aneuploidy and microtubule disruption by fluorescence in situ hybridization and immunocytochemistry. 750 57

The human trithorax homolog gene (MLL) is directly involved in over 90% of cases of acute leukemia with abnormalities of 11q23. However, involvement of other genes at 11q23 both centromeric and telomeric of MLL has been identified in different subtypes of leukemia and lymphoma. We describe a case of acute myelomonocytic leukemia (AMML; FAB type M4) with t(10;11)(p13;q23) in which the breakpoint at 11q23 was centromeric to the MLL gene and distinct from the breakpoint seen in promyelocytic leukemias with t(11;17)(q23;q22), thus providing further evidence of heterogeneity of breakpoints in 11q23 in acute leukemia. Rearrangements of immunoglobulin (IG) and T-cell receptor (TCR) genes were also observed, with no immunophenotypic evidence for commitment to the lymphoid lineages, indicating that inappropriate activation of the recombinases may be a feature of this particular variant translocation.
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PMID:Acute myelomonocytic leukemia with t(10;11)(p13;q23): heterogeneity of breakpoints at 11q23 and association with recombinase activation. 752 50

Since in AML differentiation is abnormal but not absent, a hierarchy of stem cells, progenitor cells and more differentiated cells is postulated. The leukemic stem cell might also be characterized by the expression of CD34 and the absence of differentiation markers. Bone marrow samples of 33 AML patients, including 10 patients both at presentation and after relapse, were double labeled for CD34 and CD33. In 14/33 AML less than 1% of the labeled cells were found in the CD34+/33- fraction. After relapse a certain shift towards a more primitive phenotype was observed, but in 4/5 relapsed AML the CD34+/33- fraction remained below 1%. Single cells from the different subfractions were cultured and showed heterogeneous cluster and colony growth in both the CD34-/33+ and CD34+/33+ fraction. More colonies were observed in the CD34+/33- fraction. In AML with a more 'mature' phenotype (low number of CD34+/CD33- cells), highly proliferative myeloid, erythroid and mixed colonies could be cloned exclusively from this small CD34+/33- fraction. In five patients with numerical chromosomal abnormalities all these highly proliferative colonies appeared disomic using in situ hybridization (ISH) with centromeric probes. Based on these data we conclude that the CD34+/33- cell fraction in AML with a more mature immunophenotype (small fraction of cells CD34+/33-) comprise residual normal progenitors, while no primitive leukemic progenitors could be identified.
Leukemia 1995 Mar
PMID:Residual normal, highly proliferative progenitors can be isolated from the CD34+/33- fraction of AML with a more differentiated phenotype (CD33+). 753 67

A comparison of cytogenetical data on acute lymphoblastic leukaemia studied at four large European centres has revealed a non-random dicentric chromosome abnormality: dic(9;20) (p1?3;q11) in 10 patients, nine of whom were children. All had early precursor-B lineage ALL, and eight children had a non-standard risk clinical presentation. The origin of the dicentric chromosome was demonstrated using a range of chromosome banding techniques. This was confirmed by FISH using paints and centromeric probes for chromosomes 9 and 20, together with a number of cosmid probes. The follow-up time of these patients is presently too short and the number of patients too few to determine the prognostic significant of this chromosome abnormality.
Leukemia 1995 Oct
PMID:A non-random chromosome abnormality found in precursor-B lineage acute lymphoblastic leukaemia: dic(9;20)(p1?3;q11). 756 98

We describe a patient with an asymmetric double ring 21 in mosaic form, 45,XX, -21/46, XX, -21, +r(21), who has limited manifestations of Down syndrome and who developed acute myelofibrosis and megakaryocytic leukemia (AMKL), FAB M7, a hematologic disorder particularly common in Down syndrome patients. In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side. FISH studies indicate two sizes of ring 21 in the patient. The origin of the supernumerary chromosome 21 in the proband was paternal; furthermore, the r(21) probably was formed postzygotically. Included in the duplicated segment are the candidate genes for leukemia AML-1, ETS, and ERG. The potential significance of disomic homozygosity of loci on 21q in M7 megakaryocytic leukemia is discussed.
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PMID:Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia. 757 23

Monosomy 17 and structural abnormalities of the short arm of chromosome 17 have been reported to influence prognosis and treatment outcome in patients with non-Hodgkin's lymphoma (NHL). In diffuse large cell lymphoma, these abnormalities were associated with refractoriness to chemotherapy, higher proliferative rate and poor prognosis. We studied the incidence of chromosome 17 abnormalities in 55 patients with NHL by using fluorescence in situ hybridization with a directly conjugated centromeric probe for chromosome 17. Twenty-three patients (42%) were previously untreated. Thirty-four patients (62%) had diffuse large cell lymphoma, 18 (33%) had follicular low-grade lymphoma, one had small lymphocytic lymphoma, one had diffuse mixed cell lymphoma, and one had mantle cell lymphoma. Cells from benign lymphoid hyperplasia were used as controls. Eight patients (15%) had trisomy 17 in 1.2-40.7% of cells and one patient (1.8%) had monosomy 17 in 68.8% of cells. We conclude that monosomy 17 is not common in NHL. Chromosome 17 deletions should be investigated with region-specific probes to determine their clinical relevance in NHL.
Leukemia 1995 Jul
PMID:Chromosome 17 numerical abnormalities in 55 patients with non-Hodgkin's lymphoma: a fluorescence in situ hybridization study. 763 Jan 87


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