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Query: UMLS:C0023473 (chronic myeloid leukemia)
 18,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We examined metaphases from three patients with chronic myeloid leukaemia and a typical Philadelphia chromosome with one chromosome 9 as the recipient to determine whether the 9q+22q- translocation is reciprocal. Good quality G-banded photographs of the chromosomes concerned were subjected to light absorption density analysis. This provided enlarged tracings corresponding to the relevant chromosome regions and so facilitated accurate measurement. This technique has unambiguously shown that the typical Philadelphia chromosome results from a reciprocal translocation and that probably no material is gained or lost in the exchange. Furthermorein a total of six patients for whom sequential G and C banding was performed, the chromosome 9 with the largest block of centromeric heterochromatin received the translocated material. We offer tentative explanations for this curious observation.
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PMID:Reciprocal translocation and the Philadelphia chromosome. 27 14

Forty-two Ph1-positive cases of chronic myelocytic leukemia (CML) were examined with chromosomal banding techniques. Thirty-seven of these cases had the "standard" type of Ph1 translocation between chromosomes No. 9 and No. 22 [t(9;22)(q34;q11)] in the Ph1-positive marrow cells; 5 cases had unusual types of Ph1 translocation. Of the 37 cases, 21 had additional numerical and/or structural chromosomal changes, 2 had a missing Y chromosome, and 1 had an extra Ph1 in the Ph1-positive cells. In the 5 cases with unusual types of Ph1 translocation, chromosomes No. 2, No. 9 No. 10, and No. 13 were involved. The clinical picture in these 5 patients did not differ materially from that of the other Ph1-positive patients with CML, probably indicating that the recipient chromosome, with which the translocation from No. 22 takes place, does not play a crucial role in the course of the CML. In the 21 cases with abnormal karyotypes, nonrandom chromosomal changes were observed. Most of the changes were related to events occurring at the centromeric region. The prognosis of cases with only an extra No. 8 or Ph1 appears to be better than that for cases with an iso-17q [I(17a)] chromosome or other extra chromosomes. The presence of the Ph1 (delected No. 22) in every case points to the essentiality of this karyotypic findings in the diagnosis of CML and possibly in the genesis of the disease.
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PMID:Chromosomes and causation of human cancer and leukemia. XVI. Banding studies of chronic myelocytic leukemia, including five unusual Ph11 translocations. 105 43

A genomic fragment containing the 5' boundary of the von Willebrand factor pseudogene was cloned, partially sequenced and used for in situ hybridization experiments on metaphase spreads from a Philadelphia chromosome (Ph1)-positive chronic myelogenous leukemia patient. Data obtained indicate that the von Willebrand factor pseudogenic region is centromeric to the breakpoint cluster region on 22q11.2. This probe could be used for the study of deletions in the DiGeorge syndrome.
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PMID:Characterization and mapping of the 5' portion of von Willebrand factor pseudogene. 148 45

Chromosome 1 is known to often be involved in various malignant diseases. Its numerical and structural aberrations have been observed in chronic and acute leukemias and solid tumors as well. Recently five protooncogenes have been assigned to the long and short arms of chromosome 1. The frequent and nonspecific occurrence of chromosome 1 rearrangements in human tumors suggests that they play an important role in the pathogenesis and progression of these diseases. The frequency, types, and time of the occurrence of chromosome 1 aberrations and their relation to the stage of the disease were studied in 317 patients with various malignant diseases. In ten patients nonrandom aberrations of chromosome 1 were observed. Two patients had CML, two PRV followed by ANLL, and the remaining six patients suffered from ANLL, ALL, Burkitt lymphoma, MF, SMMoL, and IRSA, respectively. In six patients, total or partial trisomy of the long arm or of the whole chromosome 1 was present, and in three cases balanced translocations involving chromosome 1 could be found. In the cells of one patient a duplication of the centromeric heterochromatin was seen. We analyzed the breakpoints involved. Finally, the aberrations of chromosome 1 were almost always be observed at the terminal stage of the diseases.
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PMID:Abnormalities of chromosome 1 in relation to human malignant diseases. 259 63

TCA (T Cell system A) is a di-allelic system of HLA-like antigens encoded by genes located about 15 cM telomeric to HLA-A. In normal individuals, TCA antigens are only expressed on a subpopulation of T cells, the TG lymphocytes. We now report on the expression of TCA on leukemias and other malignancies. An increased proportion of cells carrying the TCA phenotype was encountered in testing peripheral blood lymphocytes from patients with acute lymphoblastic T-cell leukemia (T-ALL), acute myeloid leukemia (AML), and chronic myeloid leukemia (CML). In contrast, patients with B-cell malignancies such as chronic lymphatic leukemia (CLL) and hairy cell leukemia (HCL) or non-T/non-B common acute lymphoblastic leukemia (common ALL) had normal proportions of TCA-positive lymphocytes. Quantitatively different levels of TCA expression are found on some melanoma cell lines and others are TCA negative. These variations are independent of the expression of HLA Class I antigens by the same cells. The expression of TCA antigens by malignant nonlymphoid cells suggests that this system may code for differentiation markers, important in the biology of neoplastic transformation.
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PMID:TCA: a polymorphic genetic marker in leukemias and melanoma cell lines. 348 57

The diminished response to secondary stimulation of human lymphocytes primed in bi-directional (BD) mixed lymphocyte culture (MLC) has been demonstrated to be due to cytotoxic destruction of the responder cells by the numerically superior allogeneic stimulating cell population. This phenomenon is called Functional Cell Mediated Lympholysis (F-CML). Matching for HLA-A and B, HLA-DR or for MLC non-responsiveness (HLA-D) in unrelated pairs does not ablate F-CML, indicating that none of these loci serve as the exclusive target for this activity. One locus appears to be centromeric from HLA-A in an A/B recombinant family and a B/D recombinant family demonstrates a target centromeric from HLA-B. A special family with homozygous for HLA-A, B and D provided evidence for an additional locus other than HLA-A, B or D. Thus, genetic studies indicate that at least one target antigen of F-CML may be coded for by a locus that is centromeric from HLA-B and which may be distinct from HLA-D or DR.
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PMID:Functional cell mediated lympholysis: II. Genetics. 694 37

Leukemic cells from two patients with Philadelphia-negative chronic myeloid leukemia (CML) were investigated: 1) Cytogenetics showed a normal 46,XY karyotype in both cases, 2) molecular studies revealed rearrangement of the M-BCR region and formation of BCR-ABL fusion mRNA with b2a2 (patient 1) or b3a2 (patient 2) configuration, and 3) fluorescence in situ hybridization (FISH) demonstrated relocation of the 5' BCR sequences from one chromosome 22 to one chromosome 9. The ABL probe hybridized to both chromosomes 9 at band q34, while two other probes which map centromeric and telomeric of BCR on 22q11 hybridized solely with chromosome 22. For the first time, a BCR-ABL rearrangement is shown to take place on 9q34 instead of in the usual location on 22q11. A rearrangement in the latter site is found in all Ph-positive CML and in almost all investigated CML with variant Ph or Ph-negative, BCR-positive cases. The few aberrant chromosomal localizations of BCR-ABL recombinant genes found previously were apparently the result of complex and successive changes. Furthermore in patient 2, both chromosomes 9 showed positive FISH signals with both ABL and BCR probes. Restriction fragment length polymorphism (RFLP) analysis indicated that mitotic recombination had occurred on the long arm of chromosome 9 and that the rearranged chromosome 9 was of paternal origin. The leukemic cells of this patient showed a duplication of the BCR-ABL gene, analogous to duplication of the Ph chromosome in classic CML. In addition they had lost the maternal alleles of the 9q34 chromosomal region.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Translocation of BCR to chromosome 9: a new cytogenetic variant detected by FISH in two Ph-negative, BCR-positive patients with chronic myeloid leukemia. 751 67

Following retrospective screening of our karyotype data from 414 consecutive non-childhood, neoplastic, and preneoplastic hematologic diseases, we have isolated 11 cases with alterations involving one or two chromosome termini, including: a) nonclonal telomeric telomeric associations (tas), b) subclonal terminal rearrangements consisting of additional (add) material of unknown origin fused at the end of the chromosome, c) clonal telomere-centromere fusion (t telcen) with pseudodicentric structure. Most of these abnormalities were present in karyotypes with multiple alterations and associated to an evolutive stage of the disease (9 of 94 cases studied in progression, including three of 22 CML studied in blast crisis). The immunophenotype of the cell populations was lymphoid in eight cases, six of which were NHL, and myeloid, erythroid, and undifferentiated in the other three. More data on telomeric abnormalities may clarify whether there is ubiquitous genomic instability of neoplastic cells or an inborn cell lineage predisposition favoring rearrangements involving telomeres.
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PMID:Chromosome rearrangements at telomeric level in hematologic disorders. 755 81

Hemizygous and homozygous deletions of the type I interferon gene cluster (IFN) have been detected in about 20% of acute lymphoblastic leukemias. A putative tumor suppressor gene (TSG) is thought to be located centromeric to the IFN cluster on chromosomal bands 9p21-22. We studied the accuracy of fluorescence in situ hybridization (FISH) for detecting deletions in interphase cells using yeast artificial chromosome (YAC) clones containing all or part of the IFN cluster. FISH probes were generated from YACs (320-1300 kb in size) by a sequence-independent amplification technique (SIA). Fifteen cell lines (nine T-ALL, three B-cell precursor ALL, one B-ALL, one AML, one CML-BC) that had been well characterized by conventional cytogenetic analysis and molecular techniques were analyzed. We were able to detect all numerical changes of the IFN cluster including homozygous and hemizygous deletions accurately and to define subclones of the cell lines. Moreover, in six cell lines we were able to identify subclones. In dilution experiments the detection thresholds for subpopulations with homozygous and hemizygous deletions were determined to be 5% and 7.5%, respectively.
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PMID:Detection of 9p deletions in leukemia cell lines by interphase fluorescence in situ hybridization with YAC-derived probes. 765 4

We examined bone marrow (BM) cells from 6 Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) patients in advanced phase of the disease using conventional cytogenetic techniques and fluorescence in situ hybridization (FISH) for detection of an extra chromosome 8. All patients showed mosaicism for trisomy 8 as a secondary chromosome abnormality. For FISH, we used the D8Z5 probe specific for the centromeric region of chromosome 8 and analyzed 300 interphase nuclei and a variable number of mitoses for each patient. The percentages of metaphases carrying trisomy 8 were similar with both techniques, whereas the percentage of interphase nuclei showing three hybridization spots indicative of trisomy 8 was significantly lower than that in metaphases. This finding suggests that cells with a supernumerary chromosome 8 may have a cell cycle time shorter than that of disomic cells.
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PMID:Trisomy 8 detection in Ph+ CML patients using conventional cytogenetic and interphase fluorescence in situ hybridization techniques. 811 34


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