Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023418 (leukemia)
 93,477 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Xeroderma pigmentosum (XP), Fanconi anaemia (FA), ataxia telangiectasia (AT) and Bloom disease (BS) are four rare autosomal recessive disorders in which there is defective DNA repair and/or chromosome instability and proneness to malignancy. Between 80 and 90% of patients with XP have a defect, demonstrable at cell level, of excision of DNA lesions induced by ultraviolet rays, while the remainder have a cellular error of post-replication repair. XP cells are also deficient in repairing DNA damage caused by a variety of chemical mutagens. There are at least five different complementation groups of the first, or classical, type of XP (A to D, etc.) Apparently group C patients, as well as those with defective post-replication repair, do not show the progressive neurological illness found in a proportion of the other patients. AT is heterogeneous clinically and genetically. Clinically it presents with a progressive neurological illness, progressive telangiectases and a developmental disorder of the thymus. AT is characterized by sensitivity to X-rays and AT cells are unable to repair gamma-ray-induced damage to bases in the DNA. It appears that in many cases of the disorder a chromosomally marked cellular clone is found. In BS the main defect, which results in growth retardation, sun-induced lesions of the face and susceptibility to infection, appears to be a slow DNA chain maturation during DNA synthesis. An increase of sister chromatid exchanges is characteristically seen in the chromosomes of cultured BS cells. In FA, in which there is progressive pancytopenia with eventual bone marrow exhaustion and a tendency to haemorrhage and infection, the cellular defect seems to consist of faulty removal of repair of cross-links in the DNA. In this condition, as in BS and AT, various structural chromosome changes are detected in cultured cells. Patients with XP develop skin cancers in early life and often maligant melanomas. In the other three disorders, in which an immune deficiency is often present, leukaemia and related proliferative disorders are a frequent cause of death while other malignancies also occur. There is some evidence that points to an increased risk of malignancy in heterozygotes who carry the FA and AT genes.
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PMID:DNA repair defects and chromosome instability disorders. 25 77

The syndrome of Shwachman is characterized by pancreatic insufficiency and bone marrow dysfunction, usually manifesting itself as neutropenia. The pancreas shows replacement of the exocrine glands by adipose tissue; sweat electrolytes are normal. A 23-year-old male who was known to suffer from neutropenia and pancreatic dysfunction from early childhood, presented with fever, acquired Pelger-Huet anomaly (of the polymorphonuclear granulocytes) and sideroblastic anaemia, a combination of symptoms suggestive of preleukaemia. A few months later he died of acute myeloblastic leukaemia and autopsy showed a dystrophic pancreas. Considering this case history it seems possible that the haematological anomalies of Shwachman's syndrome are signs of preleukaemia. Careful follow-up of patients suffering from Shwachman's syndrome seems warranted.
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PMID:Syndrome of Shwachman and leukaemia. 26 92

The haematological findings in the peripheral blood of 50 patients in whom the diagnosis of chronic granulocytic leukaemia (CGL) had been made in the haematology laboratory, and who were subsequently shown to be Philadelphia-chromosome-positive, have been reviewed. The differential leucocyte counts were performed by 3 observers, examining a total of 1,500 cells in each patient. The degree of anaemia at diagnosis was unrelated to sex and correlated poorly with leucocyte count; thrombocytopenia seemed unrelated to leucocytosis. A differential luecocyte count which included a complete spectrum of granulocytic cells, with prominent peaks in the percentages of myelocytes and neutrophils, was an invariable finding. Absolute basophilia occurred in all patients and absolute eosinophilia in 92%. In 54% of the patients there was an absolute lymphocytosis. Unlike the finding in normal subjects, there was no linear relationship between the numbers of circulating neutrophils and monocytes. Application of these findings should improve the accuracy of the haematological diagnosis of CGL, while study of the rare cases which possess the above features but are Ph1-negative may throw further light on the role of the Philadelphia chromosome in the natural history of CGL.
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PMID:The peripheral blood in chronic granulocytic leukaemia. Study of 50 untreated Philadelphia-positive cases. 26 93

Using a method involving elution of hemoglobin bands from cellulose acetate strips following electrophoresis of hemolysates, hemoglobin A2 (Ab A2) was quantitated in bloods from 300 healthy individuals and 904 patients. The percentage of Hb A2 was elevated in beta-thalassemia heterozygotes and some patients who had megaloblastic anemia. In the latter, the highest Hb A2 levels were observed in patients with the most severe anemia. Low Hb A2 percentages were found in iron-deficiency anemia, hereditary persistance of fetal hemoglobin, and Hb H disease. In iron-deficiency anemia, the lowest levels of Hb A2 were observed in association with the most severe anemia. Iron and folate deficiency each suppressed Hb A2 levels in beta-thalassemia heterozygotes; however, vitamin B12 deficiency did not alter the percentage of Hb A2 in thalassemia. Malignant tumors, renal and hepatic insufficiency, chronic infections and inflammation, hemolytic disease, lead poisoning, aplastic anemia, leukemia, myelofibrosis, and hypothyroidism did not change Hb A2 levels. The pathogenesis of altered Hb A2 levels and their clinical significance in various diseases are discussed.
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PMID:Hemoglobin A2 levels in health and various hematologic disorders. 26 35

The terminal phase of most patients with Ph1-positive chronic granulocytic leukemia (i.e., blast crisis) resembles acute leukemia. The clinical and hematologic features of blast crisis in 73 patients with chronic granulocytic leukemia have been reviewed. Two major morphological subgroups, lymphoblastic and myeloblastic, were identified. The lymphoblastic group in general had more profound thrombocytopenia and a greater number of blasts, while the myeloblastic group had more severa anemia. Extramedullary leukemia was documented in 27 patients. In 12 patients extramedullary leukemia preceded or occurred simultaneously with blast crisis in the bone marrow and peripheral blood. On the basis of this study we present hematologic criteria for the diagnosis of blast crisis and emphasize the importance of extramedullary leukemia in heralding the onset of blast crisis.
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PMID:Characteristics of blast crisis in chronic granulocytic leukemia. 26 37

21 patients with chronic myelocytic leukaemia (CML) have been followed closely during and after development of blastic transformation (BT). Severe fatigue in previously asymptomatic patients was the most frequently observed prodrome of transformation. Most significant clinical findings were anaemia, rapidly increasing WBC and increasing size of the spleen in patients with previously well-controlled CML. 11 out of 24 patients responded to chemotherapy and had a median survival of 3 months, 6 obtained a complete remission (CR). Median survival time for all patients was 2 months from BT. Quality of life after BT was in most cases inferior. Thus, only 5 patients spent more than 1 month outside hospital. Cytomorphological classification of blasts in marrow as granular or agranular showed no correlation to the results of chemotherapy or to survival.
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PMID:Blastic transformation of chronic myelocytic leukaemia. Clinical manifestations, prognostic factors and results of therapy. 26 71

In general, megakaryocytic myelosis is nowadays considered to be a separate disease entity, one of the myeloproliferative syndromes. Morphologically there are localised or diffuse proliferations of usually large pleomorphic megakaryocytes and immature atypical megakaryocytes up to megakaryoblasts in the bone marrow, in the sense of a haemoblastosis. In the course of the disease megakaryocytic splenomegaly develops. A sarcomatous form (megakaryoblastoma, megakaryo-sarcoma) is rare. Megakaryocytic myelosis may arise from chronic meyloid leukaemia or polycythaemia vera, rarely as a transitional stage to an acute myeloblastic leukaemia or megakaryoblastic leukemia in the sense of a blast crisis. The mature form of the disease, which has an age peak at 59 years and is not sex-linked, often takes a course over years with increasing splenomegaly, anaemia, moderate leucocytosis and usually marked thrombocytosis (average value of 720 X 10(9)/1). Life threatening complications are haemorrhages, thromboembolism and increased frequency of infections due to antibody deficiency in the advanced stage.
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PMID:[Megakaryocytic myelosis: clinical and morphological features (author's transl)]. 26 86

A 6-year-old boy with Fanconi anemia, developed acute myelomonocytic leukemia with marker chromosomes from an interchange in the malignant clone in the bone marrow. The possible aetiological role of therapy, the morphological characteristics and chromosome aberrations of the bone marrow cell line are discussed in relation to previous reported cases of Fanconi anemia in which acute leukemia has supervened.
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PMID:Fanconi anemia leading to acute myelomonocytic leukemia: cytogenetic studies. 26 49

In a cooperative trial, 90 patients with refractory anaemia with an excess of blast cells in the marrow were evaluated and treated with androgens. The clinical presentation was very similar to previously published observations: features of medullary insufficiency were less marked than in primary aplastic anaemia; bone marrow blastic infiltration varied from case to case, and remained stable until death or until an acute leukaemic change. All the patients were treated with high doses of androgens as for aplastic anaemia. The efficacy of this therapy was poor. The average life expectancy was 13 months, 64% of deaths being associated with a change to acute myeloid leukaemia. A severe bone marrow deficiency foreshadowed early death, but myeloblastic transformation was observed whatever the initial degree of blastic infiltration of the bone marrow. A comparison with the literature suggests that androgen therapy may accelerate the change to acute leukaemia.
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PMID:Refractory anaemia with excess of myeloblasts in the bone marrow: a clinical trial of androgens in 90 patients. 27 Oct 13

A case of refractory anaemia with medullary myeloblastosis (RAMM) is described. RAMM is a very rare disease and its relationship to aplastic anaemia and smouldering leukaemia is not clearly established. The diagnosis is confirmed by evaluation of the bone-marrow aspirate and ferrokinetic studies which demonstrate ineffective erythropoiesis. The disease is combined with leucopenia, thrombocytopenia and a hyperplastic bone-marrow. Our patient was monitored for 18 months, during which time her haematological findings remained stable. Since transformation into acute leukaemia occurs in about 25% of the cases, a bone-marrow culture study was performed in order to determine such a leukaemic transformation which is not detectable on examination by the light microscope. Culture studies are discussed along with some prognostic, therapeutic and pathophysiological problems of RAMM.
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PMID:[Anaemia with medullary myeloblastosis (author's transl)]. 27 27


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