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)

The clinical and morphological characteristics of Shwachman's syndrome (exocrine pancreatic insufficiency, pancytopenia, skeletal changes) were observed in a boy who, at the age of 8 years, developed a juvenile form of chronic myeloic leukemia which did not respond to cytostatic treatment. Autopsy revealed a striking lipomatous atrophy of the pancreas, defects in the ossification zones of the bones and marked dwarfism. In addition there was leukaemic infiltration of the pancreas, the spleen, the liver and the lymph nodes. The association of Shwachman's syndrome with leukaemia is a rare, but remarkable complication of this entity because of its relationship to the preceeding pancytopenia. Thorough follow-up of the haematological status of patients with Shwachman's syndrome is recommended.
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PMID:Shwachman's syndrome and leukaemia. 16 96

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

Using radioimmunoassay, immunoreactive SP (iSP) has been measured in the plasma of 162 hospital patients with various disorders and in the plasma of 67 pregnant women. In pregnancy, iSP was undetectable in 40% women as compared to 12% in other hospital patients. The mean iSP plasma level in pregnancy was 37.8 +/- 4.6 (SEM) as compared to 77.1 +/- 4.9 (SEM) pg/ml in other hospital patients. The results support earlier observations based on bioassay, suggesting that the blood of pregnant women contains higher concentrations of a SP-inactivating factor. Of the hospital patients, elevated levels of iSP were found in patients with chronic leukaemia, in one patient with a basaloid carcinoma of the anus, and in one patient with toxic liver damage and pancreatic insufficiency. No correlation was found between thyroid function and iSP plasma levels. ISP plasma levels in various gastrointestinal disorders were similar to those found in normal subjects.
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PMID:Substance P plasma levels in pregnancy and in various clinical disorders. 47 37

The replacement of genetically deficient enzymes in patients with inherited metabolic disorders by infusion of purified enzymes or by organ transplantation has had very limited success, although good results with bone marrow transplantation have been obtained in some patients with mucopolysaccharidosis, Gaucher disease and inherited immunodeficiency diseases. Genetic engineering of the patient's lymphocytes may ultimately render these approaches redundant, at least for some of these diseases. Treatment of chronic pancreatic insufficiency and of disaccharidase deficiency with oral enzymes can be very effective; therapy can be monitored in the latter by measuring the breath hydrogen excretion and in the former by a range of tests of which stool chymotrypsin assay is the most convenient. Treatment of acute myocardial infarction by intracoronary perfusion of thrombolytic enzymes can improve both cardiac function and long-term survival if given early enough. Successful reperfusion can be identified by changes in the kinetics of serum enzyme release and clearance, especially for the isoenzymes and isoforms of creatine kinase. In cancer chemotherapy, L-asparaginase has long been a useful adjunct in the treatment of acute lymphoblastic leukemia, but recent experience suggests a role in acute nonlymphoblastic leukemia as well.
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PMID:Enzymes as agents for the treatment of disease. 157 79

Shwachman's syndrome is a rare congenital disorder associated with neutropenia and exocrine pancreatic insufficiency. We describe the development of acute myeloid leukemia in a 38-year-old patient with Shwachman's syndrome following three years of pancytopenia. After chemotherapy the leukemic clone was eradicated, however, the patient's bone-marrow hypoplasia persisted beyond 180 days with neutropenia that responded to administration of granulocyte colony-stimulating factor. Despite the patient's low erythropoietin levels, administration of erythropoietin did not improve his hemoglobin. We review previously reported cases of leukemia complicating Shwachman's syndrome with emphasis on the persistent risk of complications in patients with congenital bone-marrow failure syndromes.
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PMID:Acute leukemia complicating bone marrow hypoplasia in an adult with Shwachman's syndrome. 751 52

Shwachman-Diamond syndrome (SDS) is a rare inherited disorder involving concomitant neutropenia and exocrine pancreatic insufficiency. About 25% of patients develop hematopoietic malignancies. We describe a 24-year-old male patient with SDS who underwent allogeneic bone marrow transplantation (BMT) because of progression into acute myeloid leukemia (AML) following myelodysplastic syndrome (MDS). The BMT preparative regimen consisted of busulfan (16 mg/kg body wt.), followed by cyclophosphamide (120 mg/kg). Cyclosporin A and short methotrexate were used for graft-versus-host disease (GvHD) prophylaxis. The post-transplant period was complicated by staphylococcal septicemia, CMV infection, renal insufficiency, and acute GvHD grade III. Hematological recovery was delayed (post-transplant day +55). The patient was discharged at day +68 in complete remission without any evidence of MDS. RFLP fingerprint analysis showed complete engraftment of the donor's hematopoiesis. The patient's leukemia relapsed 9 months post-transplant, and death followed due to CMV infection and multiorgan failure. Despite the fatal course in this patient, allogeneic BMT could be an option for curative treatment of the hematopoietic failure in SDS. The interaction of BMT with pancreatic insufficiency still has to be ascertained.
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PMID:Allogeneic bone marrow transplatation in a patient with Shwachman-Diamond syndrome. 859 12

Inherited bone marrow failure syndromes (BMFs) comprise at least one-fourth of children with aplastic anemia, and perhaps up to 10% of adults. The most common syndrome is Fanconi's anemia (FA), with more than 1,000 reported cases. FA is autosomal recessive, with birth defects in approximately 75% of patients. It is a DNA repair syndrome, diagnosed by finding chromosomal aberrations in cells treated with clastogenic agents. The major problems in FA are, in order, aplastic anemia, leukemia, and other cancers. There are at least five complementation groups; the gene for Group C has been cloned. Carrier identification and gene therapy are beginning in families at risk for FAC mutations. Dyskeratosis congenita (DC) is primarily X-linked (at Xq28), with autosomal recessive and dominant cases as well. Patients classically have reticulated hyperpigmented skin, dystrophic nails, and mucous membrane leukoplakia. approximately 50% develop aplastic anemia, sometimes prior to the DC phenotype, and approximately 10% develop cancer. Shwachman-Diamond syndrome consists of exocrine pancreatic insufficiency with neutropenia; approximately 25% develop aplastic anemia and 5%-10% develop leukemia. Amegakaryocytic thrombocytopenia presents in infancy, and often evolves into aplastic anemia and/or leukemia. Single cytopenias include Diamond-Blackfan anemia (DBA), which is inherited pure red cell aplasia; transient erythroblastopenia of childhood; Kostmann's syndrome (KS) or infantile genetic agranulocytosis, and thrombocytopenia with absent radii in which there is neonatal thrombocytopenia and absent radii. DBA and KS, particularly the latter treated with G-CSF, may develop leukemia, and solid tumors have been reported in DBA. Treatment for the various BMFs includes bone marrow transplantation, androgens, and hematopoietic cytokines such as G-CSF. These inherited syndromes thus include various combinations of marrow failure and premalignancy.
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PMID:Aplastic Anemia, Pediatric Aspects. 1038 17

A 42 year old man presented with gluten-responsive coeliac disease and secondary pancreatic insufficiency. Subsequently his symptoms relapsed and repeat small intestinal biopsy showed villous atrophy and infiltration by leukaemic cells, despite continuation of a gluten-free diet. Serious causes of relapse and non-responsiveness in coeliac disease include enteropathy-associated T-cell lymphoma, ulcerative jejunitis and an end-stage hypoplastic mucosa. This is the first report of non-responsiveness due to infiltration by leukaemia.
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PMID:A new cause of 'non-responsiveness' in coeliac disease? 1072 67

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. About 25% of patients develop hematopoietic malignancies. We report on a case of acute myeloid leukemia (M2) in a 21-year-old woman affected by SDS. She was treated with conventional chemotherapy (idarubicin plus cytarabine) and reached complete remission of leukemia. After induction chemotherapy, she underwent allogeneic bone marrow transplantation (BMT). The BMT preparative regimen consisted of total body irratation (TBI) followed by cyclophosphamide. Cyclosporin A and short term methotrexate were used for graft-versus-host disease prophylaxis. After a follow-up of 12 months, she is alive leukemia free off any immunosuppressive agent. Although experience in this field is scarce, we speculate that bone marrow failure in SDS is an indication for BMT which is the only curative treatment option.
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PMID:Allogeneic bone marrow transplantation in Shwachman-Diamond syndrome with malignant myeloid transformation. A case report. 1229 32

Shwachman-Diamond syndrome (SDS) is a rare congenital disorder featuring exocrine pancreatic insufficiency, growth retardation, and bone marrow dysfunction. Reports suggest that nearly 25% of all cases are complicated with leukemia. Although stem cell transplantation is the sole option for these patients, successful results are rarely obtained. Poor outcomes are often related to graft failure and cardiac and other organ toxicities. We describe in this report successful unrelated donor bone marrow transplantation for a patient with SDS who progressed to acute myelogenous leukemia. The patient received attenuated intensified chemotherapy because of his intolerance to ordinary chemotherapy and went into remission. Sustained unrelated donor bone marrow engraftment was accomplished after treatment with a reduced amount of cyclophosphamide and antithymocyte globulin with 12 Gy of total body irradiation as a conditioning regimen. To the best of our knowledge, this report is the first to describe unrelated donor bone marrow transplantation with complete engraftment for an SDS patient with myelogenous leukemia.
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PMID:Successful unrelated donor bone marrow transplantation for Shwachman-Diamond syndrome with leukemia. 1500 50


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