Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023473 (chronic myeloid leukemia)
 18,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An isochromosome for the long arm of chromosome 17,i(17q), is frequently found as an additional chromosome aberration to the Ph with advanced disease in the chronic myelocytic leukemia (CML). We studied an i(17q) in blood samples from two patients with CML in blast crisis with a biotinylated chromosome 17 specific alpha satellite deoxyribonucleic acid probe. G-banded karyotypes of these patients showed a dicentric i(17q), dic(17)(p11.2). Fluorescence in situ hybridization (FISH) delineated one normal chromosome 17 and one i(17q) among metaphase chromosomes; the latter showed a dicentric pattern. In most interphase nuclei of both patients, two fluorescence spots were observed. In some interphase nuclei, including mature neutrophils, the dicentric chromosome was discernible by its size and shape of the fluorescent spots. Three fluorescent spots were observed in a small proportion of interphase cells, and existence of a subclone with two normal chromosome 17 and an i(17q) was confirmed by examining a large number of metaphase plates. The results of FISH provided us with information of numerical and structural aberrations of chromosome 17 in interphase cells.
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PMID:Detection of an i(17q) chromosome by fluorescent in situ hybridization with a chromosome 17 alpha satellite DNA probe. 139 99

A patient with chronic myelogenous leukemia (CML) associated with pure red cell aplasia (PRCA) is reported. The occurrence of PRCA has been described previously in sporadic cases of Philadelphia chromosome (Ph) positive CML. In this patient, however, the Ph-chromosome was not detected; cytogenetic analysis revealed a t(12;14)(q23;p11) as the sole abnormality. Molecular studies by Southern and PCR analyses showed the rearrangement of the BCR and ABL sequences and expression of the chimeric bcr/abl mRNA, thus confirming the diagnosis of CML. To our knowledge, this is the first report on a case of PRCA associated with Ph negative CML at diagnosis. The possible connection between CML and PRCA is discussed.
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PMID:Pure red cell aplasia in a case of Ph negative BCR/ABL rearranged CML with t(12;14)(q23;p11). 175 63

A case of chronic myelogenous leukemia (CML) is described whose leukemic cells appeared to contain two Philadelphia (Ph) chromosomes originating from different translocations involving the two chromosomes 22. The karyotype of the affected cells, established on two different occasions, was: 46,XY,t(9;22)(q34;q11),t(15;22)(p11;q11) with no normal chromosomes 22 and only one 9q+ in each of 115 marrow cells examined. The same findings were present in 50 peripheral blood cells cultured without phytohemagglutinin (PHA) stimulation. When stimulated with PHA, a normal male karyotype was present in the 11 cells examined. There were no additional chromosomal abnormalities and no indication of a blastic crisis after nearly 1 year following the original study. Analysis of the breakpoint cluster region (bcr) on chromosome 22 in the DNA of the affected cells (marrow) revealed evidence for one rearranged chromosome 22 and one normal chromosome 22, indicating that the t(15;22) was not due to the usual Ph translocation seen in CML. The results point to the crucial usefulness of molecular analysis in confirming cytogenetic results related to Ph translocations in CML.
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PMID:Molecular differentiation of two different translocations producing two apparent Ph chromosomes in a patient with CML. 188 59

A 6-year-old white boy with chronic myelogenous leukemia (CML) (adult type) developed complex translocations after a bone marrow transplant (BMT): t(9;22;17)(q34;q11;p12) t(10;18;19)(p11;q11;p12) and in the accelerated phase. The patient relapsed after his BMT and underwent a second BMT after a documented blast crisis. The previous karyotypic translocations persisted.
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PMID:Complex translocations in a patient with chronic myelocytic leukemia: t(9;22;17) and t(10;18;19) after two failed bone marrow transplantations. 233 87

We report a 25 year-old male of CML, who repeated lymphoid blast crises twice and finally experienced a myelomonocytic blast crisis. In the first and the second crises, after 2 years of chronic phase, the blasts were only weakly positive or negative for terminal deoxynucleotidyl transferase. Based on other morphological features of the blasts, however, lymphoid blast crisis was strongly suspected. Actually, he responded well to the vincristine and prednisolone therapy. In the third crisis, the blasts showed myelomonocytic features. He did not respond to the same regimen, and died of intracranial infiltration during daunorubicin and cytosine arabinoside therapy after one year from the first crisis. Chromosomal analysis showed the karyotypes of 46, XY, t(9:22) (q34:q11) in the chronic phase, 45, XY, -7, -9, +der(9) t(7;9) (q11;p11), t(9:22) (q34:q11) in the lymphoid blast crisis, and 46, XY, t(9:22) (q34:q11), t(11:17) (q23:q25) in the myelomonocytic blast crisis.
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PMID:[Chronic myelogenous leukemia characterized by successive lymphoid and myelomonocytic blast crises]. 279 81

A probe derived from the 3' end of the CML breakpoint cluster region (bcr) was localized in chronic myelocytic leukemia (CML) cases with complex Philadelphia translocations, [t(8;9;22)(q13;q34;q11) and t(12;9;22)(p11;q34;q11)], and with "masked" Ph chromosomes, [t(9;5;22)(q34;q31;q11) and t(9;22)(q22;q34)], by a chromosomal in situ hybridization technique. In some cases, the 3' bcr rearrangements in the DNA were examined with Southern blot analysis. In each case, a significant accumulation of grains hybridized to the 3' bcr probe was observed at chromosomal segments derived from the long arm of a chromosome #22. In some cases, the accumulation of grains was detected on both translocated segments derived from the 22q and terminal portions of Ph chromosomes; Southern blot analysis revealed that breakage in chromosome #22 occurred within DNA sequences of the 3' bcr probe involved in the Ph translocations. In a CML cell line, K562, no accumulation of grains hybridized to the 3' bcr probe was detected, except at 22q11 of the normal chromosomes #22; Southern blot analysis of this cell line revealed that the 3' bcr sequences were missing. Thus, the data presented here suggest a complexity in the formation of "masked" Ph chromosomes.
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PMID:Transposition of breakpoint cluster region (3' bcr) in CML cells with variant Philadelphia translocations. 303 May 34

A 29-yr old woman developed urticaria pigmentosa which subsequently progressed through systemic mastocytosis to Philadelphia chromosome negative (Ph neg) chronic myelogenous leukemia (CML) with t(8;17). Further cytogenetic evolution occurred at the time of transformation to the aggressive phase of the disease. Unlike Ph-positive CML, chromosome number 9 was not involved, nor was the breakpoint cluster region located at band 22q11. This clearly separates this case from other Ph-negative CML patients who do have involvement of 9q34 or the breakpoint cluster region. Since this is the first case of its type to be reported with cytogenetic abnormalities, the clinical relevance of the unique chromosomal rearrangement t(8;17)(p11;q25) in the setting of systemic mastocytosis is unclear. Additional cases need to be reported to determine if this genetic rearrangement is a nonrandom marker of leukemia evolving in a setting of malignant mast cell disease.
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PMID:Mast cell disease followed by leukemia with clonal evolution. 311 98

A chronic myelogenous leukemia patient with a masked Ph chromosome due to a new type of translocation, t(9;11;22)(q34;p11;q11), is reported.
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PMID:Masked Ph chromosome due to a new type of translocation in a patient with chronic myelogenous leukemia. 316 49

The adhesion receptors Mac-1, LFA-1, and p150,95 are cell surface alpha/beta heterodimers that play a key role in leukocyte adhesion processes. The genes for Mac-1, LFA-1, and p150,95 alpha subunits have been located to chromosome 16 by means of Southern blot analysis using a series of somatic cell hybrids. Chromosomal in situ hybridization has demonstrated that the genes for the three alpha subunits map to the short arm of chromosome 16, between bands p11 and p13.1, defining a cluster of genes involved in leukocyte adhesion. The gene encoding the LFA-1/Mac-1/p150,95 beta subunit, and defective in leukocyte adhesion deficiency, has been located on chromosome 21, band q22. The leukocyte adhesion receptor alpha and beta subunits are mapped to chromosomal regions that have been shown to be involved in cytogenetic rearrangements in certain patients with acute myelomonocytic leukemia and the blast phase of chronic myelogenous leukemia, respectively.
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PMID:Chromosomal location of the genes encoding the leukocyte adhesion receptors LFA-1, Mac-1 and p150,95. Identification of a gene cluster involved in cell adhesion. 328 62

A translocation (1;17)(p11;q11) has been observed in two chronic myelogenous leukemia (CML) patients studied during the accelerated or acute stages of their diseases. In a review of the literature, four additional cases of t(1;17)(p11;q11) were identified, suggesting that this marker may be specific for the terminal phase of CML.
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PMID:Translocation (1;17) in accelerating and blast phases of chronic myelogenous leukemia. 345 68


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