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

During the course of a 30 month study period, 26 patients with typical chronic granulocytic leukaemia (CGL) developed karyotype abnormalities in addition to the Philadelphia (Ph1) chromosome. All cases had received at least 14 months continuous low dose busulphan, and the chromosome changes were found before clinical transformation in six patients and at the time this occurred in 20. Survival following the discovery of these additional abnormalities was short, with a median of 11 weeks for the whole group. Trisomy 8 was the commonest additional chromosome abnormality, but no one karyotype change was clearly associated with shorter survival than another. 23 of the 26 have died as a direct result of their disease, forming part of a total of 40 deaths from typical CGL encountered during the study period where karyotype analyses were performed during the terminal stages of disease. Of these 40, only two (5%) patients showed no chromosome abnormalities extra to the Ph1 prior to death. (The 17 non-study patients who died were similar in all respects to the 23 from the study group, but had no prior chromosome studies performed during the chronic phase of the disease.) It is suggested that an expanding aneuploid or pseudodiploid clone arising from the leukaemic cells during the benign phase of CGL can be used to mark the sometimes ill-defined onset of the malignant phase in all but a small proportion of cases.
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PMID:Myeloid karyotype and the malignant phase of chronic granulocytic leukaemia. 27 54

A patient is shown to have acute granulocytic leukemia, bone marrow mosaicism, and cutaneous fibroblast mosaicism for trisomy 8, an inherited reciprocal translocation involving the short arms of chromosomes 7 and 20, and a family history of cancer. A normal sister who had the same balanced chromosome translocation was evaluated for a preleukemic state; the results were unremarkable. The inherited translocation and postzygotically derived trisomy 8 are thought to represent additive factors contributing to the development of leukemia in the patient.
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PMID:Acute leukemia associated with trisomy 8 mosaicism and a familial translocation 46,XY,t(7;20)(p13;p12). 29 56

Cytogenetic studies were done on 18 patients with myelofibrosis or the closely related syndrome, undifferentiated myeloproliferative disorder (MPD). Clones of cells with chromosome abnormalities were demonstrated in the blood of eight individuals, including two with a history of radiation therapy and two with "acute myelofibrosis". Trisomy 8 was present in the latter two patients, but otherwise, there was no consistent cytogenetic pattern or correlation with specific hematologic findings. Sixteen of these patients have been followed for more than 1 year or until death; none has progressed to leukemia. The results indicate that chromosome abnormalities are relatively common in this disorder, but as with polycythemia vera, and unlike some other "preleukemic" states, the aberrant clones in myelofibrosis do not appear to indicate that clinical leukemia is imminent.
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PMID:Chromosome studies in "preleukemia". III. Myelofibrosis. 99 Nov 2

In a series of 841 patients with hematologic disorders, 10 individuals were found to have an extra C group chromosome in their bone marrow cells. In two the extra chromosome was not identified, but in the remaining eight it was No. 8. Four of these ten patients had leukemia, and the others had cytopenias or other probably preleukemic conditions. The mean value for glutathione reductase activity in the red cells of four patients with trisomy 8 was significantly higher (2980 +/- 940 mumoles/min/liter of erythrocytes) than in normal controls (1930 +/- 360) or in any of five different control groups of patients with hematologic disorders. The extent of enzyme activation as a result of preincubation with exogenous flavin adenine dinucleotide was similar in the erythrocytes of all groups. The reasons for the high values of red cell glutathione reductase activity in patients with trisomy 8 are discussed in the light of the proposed assignment of the gene for that enzyme to chromosome 8.
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PMID:Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity. 106 47

The case of a 40-year-old patient with congenital trisomy 8 and sex chromosome mosaicism is discussed. The main clinical features were: mental retardation, thick and darkly pigmented skin, prominent forehead, convergent strabismus, high arched palate, flexion contractures of the extremities, and numerous skeletal abnormalities. The patient developed severe aplastic anemia followed by an interim period of preleukemia which developed into acute leukemia. Electron microscope examination of the white blood cells at the stage of the aplastic anemia showed ultrastructural abnormalities similar to those observed in other genetic disorders with a predisposition to leukemia, as well as in leukemia.
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PMID:Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism. Ultrastructural studies of polymorphonuclear cells in peripheral blood. 124 72

The United Kingdom Cancer Cytogenetics Group (UKCCG) collected retrospective data on 73 cases of acquired, single autosomal trisomies associated with haematological disorders, excluding trisomy 8 cases in myeloid conditions and trisomy 12 in lymphoid conditions. The bone marrow and/or blood smear morphology was reviewed in 49 cases. Trisomies for chromosomes 21, 11, 9 and 13 respectively were represented most frequently. Trisomy was not reported for chromosomes 1, 2, 5, 7, 16 or 17 and there was only one case of trisomy 8 in a non-myeloid condition and one case of trisomy 18. Of the 73 patients, 60 had myeloid disorders, 12 had lymphoid disorders and there was one case of acute undifferentiated leukaemia. There was no evidence of predisposing factors involved in the etiology of trisomy associated with haematological disorders.
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PMID:Primary, single, autosomal trisomies associated with haematological disorders. United Kingdom Cancer Cytogenetics Group (UKCCG). 140 15

Two patients with acute myeloblastic leukemia with t(6;9)(p23;q34) translocation and classified as AML-M2 relapsed as acute monocytic leukemia (AML-M5). Trisomy 8 was found associated with t(6;9) at that time in both patients. Such changes in differentiation of leukemic cells have not previously been reported in this subtype of AML and add data favoring the pluripotent nature of the stem cell involved in leukemia with t(6;9).
Leukemia 1992 Nov
PMID:Relapse as acute monoblastic leukemia (AML-M5) of t(6;9) acute myeloblastic leukemia (AML-M2). 143 8

We have performed a retrospective analysis of the clinical, morphologic, and cytogenetic findings in 26 patients diagnosed between January 1969 and September 1991 with acute erythroblastic leukemia de novo (EL or AML-M6). Clonal chromosomal abnormalities were found in 20 (77%) patients (95% confidence interval [CI], 61% to 93%). Loss of all or part of the long arm (q) of chromosomes 5 and/or 7 was observed in 17 (65%) patients (95% CI, 47% to 83%). In addition, the karyotypes were often complex, with multiple abnormalities and subclones. Among the remaining nine patients, six had a normal karyotype and one each had trisomy 8, t(3;3), or t(3;5). The overall frequency of abnormalities of chromosomes 5 and/or 7 observed in our M6 patients is similar to that observed in our patients with therapy-related acute myeloid leukemia (t-AML; 99 of 129 patients, 77%), but substantially higher than that noted in our other patients with AML de novo (French-American-British [FAB] subtypes M1-M5: 52 of 334 patients, 16%). Our M6 patients with abnormalities of chromosomes 5 and/or 7 were older and had a shorter median survival (16 v 77 weeks [P = .005]) than did the M6 patients without these abnormalities. We found no correlation between morphologic features and either cytogenetic abnormalities or clinical outcome. Of note was the finding that the percentage of myeloblasts, which may account for only a small fraction of the total marrow elements when the revised FAB criteria are applied, had no bearing on prognosis. We conclude that acute erythroblastic leukemia, when defined by morphologic criteria, consists of two distinctive subgroups: one group tends to be older, has complex cytogenetic abnormalities, especially of chromosomes 5 and/or 7, and shares biologic and clinical features with t-AML; the other group, with simple or no detectable cytogenetic abnormalities, has a more favorable prognosis when treated with intensive chemotherapy.
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PMID:Clinical, morphologic, and cytogenetic characteristics of 26 patients with acute erythroblastic leukemia. 145 Apr 12

Chromosome analyses were performed in five patients with myelodysplastic syndrome (MDS) who showed trisomy of chromosome 8 during the course of their disease. Four of these patients showed trisomy 8 at the diagnosis of MDS, and the remaining one had trisomy 8 when the leukemia phase developed. The proportion of bone marrow (BM) cells with trisomy 8 in the four patients who showed trisomy 8 at MDS diagnosis fluctuated, and this fluctuation was not related to the percentage of blasts in the BM or to progression of the disease. However, in two patients, metaphase cells with trisomy 8 disappeared when their anemic state improved, although leuko-thrombocytopenia was still present, suggesting that the decrease in the number of BM cells with trisomy 8 reflects hematologic features in some MDS patients. These findings indicate that trisomy 8 in our MDS patients was possibly not the primary event in the genesis of the disease, and that there may have been competition between a normal karyotype clone and a trisomy-8-positive clone. Our results further suggest that the presence of a clone with trisomy 8 is not always a sign of disease progression or of poor prognosis in MDS patients.
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PMID:Trisomy of chromosome 8 in myelodysplastic syndrome. Significance of the fluctuating trisomy 8 population. 152 Dec 38

Therapy with alpha-interferon (IFN alpha) can suppress the Ph1-positive hemopoiesis in a percentage of patients with chronic myelogenous leukemia (CML). We used IFN alpha to treat a 30-year-old CML patient, characterized by favourable prognostic signs (such as low leukocytosis, absence of splenomegaly and no increase in bone marrow blasts) at diagnosis, and obtained a complete remission, as evaluated by Southern blot and cytogenetic analysis, after one year of treatment. However, the polymerase chain reaction (PCR) revealed the persistence of a minimal residual disease. The IFN alpha therapy was stopped and the hematological status remained stable until eighteen months later, when a cytogenetic analysis revealed the appearance of a clone characterized by t(9;22) and trisomy 8, accounting for 30% of bone marrow metaphases. This cell population spontaneously regressed in the following months, before any cytotoxic treatment. However, as leukemic cells, detected by PCR, were still present, the patient received a high dose chemotherapy, which induced the complete eradication of the Ph1-positive clone, as demonstrated by the absence of bcr-abl transcript at the PCR reaction. Molecular and cytogenetic remission persist one year later, without any further therapy.
Leukemia 1992 Jul
PMID:Transient cytogenetic relapse in a Ph1-positive chronic myelogenous leukemia patient previously treated with alpha-interferon. 162 97


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