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

Chromosome and sex chromatin studies have contributed significantly to the evaluation of human bone marrow transplants. In addition to their use in documenting bone marrow engraftment following transplantation, they have been used to (1) evaluate whether recurrent leukemia occurs in donor or recipient cells and whether recovery in aplastic anemia results from growth of host or donor cells, (2) demonstrate the bone marrow origin of pulmonary macrophages and hepatic Kupffer cells, (3) show that bone marrow fibroblasts have an origin different from that of the hematopoietic bone marrow cells, (4) evaluate twin zygosity in preparation for transplantation, and (5) show that the defect in Fanconi's anemia is intracellular.
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PMID:Cytogenetic analysis in human bone marrow transplantation. 703 67

Fanconi's anemia, an inherited disorder characterized by bone marrow aplasia, peripheral pancytopenia, and multiple congenital defects, has a association with certain types of malignancies. These include acute myelomonocytic leukemia, benign and malignant liver tumors, and squamous carcinomas of various organs. We report a patient with esophageal carcinoma complicating Fanconi's anemia, summarize the various tumors associated to date with the syndrome, and discuss possible mechanisms of malignant transformation. This high incidence of malignancy must be appreciated for early diagnosis and appropriate therapy.
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PMID:Carcinoma of the esophagus associated with Fanconi's anemia. 724 Jun 94

Two children presenting with sporadic unilateral retinoblastoma and exhibiting a high degree of chromosome breakage were noted to have unusual facies, microcephaly and abnormal skin pigmentation. In the first child the pattern of both spontaneous and mitomycin-C-induced chromosome breakage was characteristic of Fanconi's anaemia although the degree of breakage was extreme. She also exhibited a striking increase in X-ray-induced chromosomal damage in G0 lymphocytes as measured by dicentric formation and increase in chromatid-type aberrations. She had a number of typical clinical features, including cafe-au-lait patches and abnormalities involving the kidney; however, she demonstrated neither the hypoplasia of radius and thumb nor the typical aplastic phase of this disorder. At age 22 months the child became anaemic with trilineage myelodysplasia, which was rapidly followed by the development of acute myeloblastic leukaemia. The early onset (at age 4 months) of retinoblastoma may have been associated with the underlying genomic instability. The second child exhibited a pattern of chromosome breakage characteristic of Bloom's syndrome, in addition to a moderate increase in damage induced by mytomycin-C. She had the typical stunted growth and malar hypoplasia of Bloom's syndrome although she did not demonstrate the frequently described erythematous 'butterfly rash' Although patients with Fanconi's anaemia and Bloom's syndrome are recognised to be at an increased risk of cancer, retinoblastoma has not previously been described in patients with either condition. We suggest that underlying recessive chromosome breakage syndromes may be underdiagnosed in paediatric cancer patients, with important implications for prognosis and genetic counselling.
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PMID:Retinoblastoma in association with the chromosome breakage syndromes Fanconi's anaemia and Bloom's syndrome: clinical and cytogenetic findings. 755 65

Fanconi's anaemia (FA) is a rare autosomal recessive syndrome characterised by progressive lethal pancytopenia, skeletal abnormalities, hyperpigmentation and increased chromosomal aberrations. A high incidence of leukaemia and hepatocellular and squamous cell carcinomas (SCC) have been reported in FA patients. A rare case of SCC of the dorsum of the tongue in a FA patient is presented. A review of the reported cases of head and neck carcinoma in FA patients shows a different male:female ratio than previously reported, and a high incidence of carcinoma of the tongue.
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PMID:Head and neck carcinoma in Fanconi's anaemia--report of a case and review of the literature. 762 92

Cord blood has been used successfully for stem cell transplantation in several haematological conditions: Fanconi's anaemia, leukaemia and Wiskott-Aldrich syndrome. On account of the low incidence of GVHD observed following cord blood transplantation, it has been suggested that cord blood be used for HLA-matched, or perhaps one or two antigens mismatched, and unrelated stem cell transplantation. Based on an extensive immunophenotype-functional correlation, we determined that cord blood contains mainly immature unprimed T lymphocytes that are predominantly suppressor cells. Recent findings suggest that dysregulated production of cytokines (IL-1, IL-2, TNF alpha) plays a role in GVHD. We showed that T cells in cord blood express receptors for IL-2, TNF alpha, but no receptors for IL-1. Similarly, NK cells, one of the effector cells of GVHD, express receptors for TNF alpha and gamma IFN but do not express receptors for IL-1, nor IL-2R alpha-chain (CD25) although IL-2R beta-chain is expressed. The potential for activation of T lymphocytes and NK cells therefore exists in the context of bone marrow transplantation. However, the high number of suppressor cells in cord blood most likely modulate the activation of lymphocytes and NK cells thereby minimizing GVHD.
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PMID:Phenotypic analysis of functional T-lymphocyte subtypes and natural killer cells in human cord blood: relevance to umbilical cord blood transplantation. 777 9

Patients with Fanconi's anaemia (FA) have aplastic anaemia, leukaemia, myelodysplasia and tumours. Since leukaemia has a very poor prognosis, it is desirable to identify high-risk patients. To determine the significance of clonal marrow chromosomal abnormalities we began a prospective study in 17 patients: five were normal, eight aplastic, and four myelodysplastic. Three of 11 with adequate cytogenetics had transient abnormal clones. None had leukaemia at 3-24 months. Changing cytogenetic patterns may not be related to leukaemic evolution in patients with a DNA repair defect.
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PMID:Clonal chromosomal abnormalities in Fanconi's anaemia: what do they really mean? 813 89

The number of reported cases of leukemia developing in growth hormone (GH) users worldwide has reached 31. Twelve Japanese cases are briefly reviewed; five each of AML and ALL, and one each of CML and malignant histiocytosis. The underlying diseases of these patients consisted of 8 idiopathic disease, 3 tumors and one Fanconi's anemia. Leukemia occurred during GH treatment in 9 cases and after cessation of GH in 3. The longest interval from the cessation of GH therapy was 10 years. GH administration from a younger age tended to be linked to myeloid type. Risk factors and possible mechanisms of leukemogenesis by growth hormone are discussed, and proposals for the future have been made by the Foundation for Growth Science in Japan.
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PMID:Leukemia and other malignancies among GH users. 837 97

Fanconi's anaemia (FA) is an autosomal recessive disorder characterized by diverse congenital abnormalities, the development of progressive bone marrow failure, and an increased predisposition to malignancy, particularly acute leukaemia. The FA phenotype is so variable that diagnosis on the basis of clinical manifestations alone can be difficult. The modern diagnosis of FA no longer rests entirely on the constellation of clinical and haematological abnormalities first described by Fanconi, but depends on finding elevated chromosomal breakage after incubation of peripheral blood lymphocytes with the chemical clastogens diepoxybutane (DEB) or mitomycin-C (MMC). The cloning of the gene for FA complementation group C [FAC] provides an opportunity to test the validity of the "DEB test' which in recent times has become the main arbiter as to whether a patient is classified as FA or non-FA. We report on two brothers with similar clinical and haematological features who have both been identified as compound heterozygotes for the FAC mutations L554P and delta G322, but only one of the brothers has a positive DEB test. On the basis of the DEB test one would be classified as FA and the other as non-FA. The time has come to re-evaluate the diagnostic criteria of "Fanconi's anaemia'.
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PMID:Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations. 870 9

Bone marrow transplant (BMT) recipients are routinely reimmmunized with the childhood vaccine series after transplantation excluding the live attenuated vaccines. In this study, the clinical and serologic responses to measles, mumps and rubella (MMR) vaccine in children after BMT was assessed. Twenty-two BMT recipients were vaccinated with MMR II (MSD). All were at least 2 years post-BMT and without GVHD. Their underlying conditions were leukemia (11), aplastic or Fanconi's anemia (7), thalassemia (3) and metabolic disease (1). All were allogeneic transplants with matched related donors. The mean age at transplantation was 6.9 years. There were no reported adverse effects of the vaccination. Antibody status for MMR was determined using commercial assays (IFA and ELISA) on paired specimens. The mean interval between transplantation and vaccination was 48 months. Pre-vaccination, no BMT recipient was sero-positive for all three, but 23% were positive for measles, 31% for mumps and 14% for rubella. Post-vaccination, 68% of BMT recipients were sero-positive for all three, with 77% for measles, 87% for mumps and 91% for rubella. Therefore, MMR vaccination at 2 years or later after BMT in paediatric recipients without GVHD was safe and significantly increased the proportion sero-positive for MMR.
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PMID:Response to measles, mumps and rubella vaccine in paediatric bone marrow transplant recipients. 872 67

The traditional classification and model of acute myeloid leukemia (AML), in common usage for much of the twentieth century, correlates poorly with treatment outcome, biologic studies, and genetic markers in AML, fails to accommodate large subgroups such as typical AML in the elderly or AML following myelodysplastic syndrome (MDS), and (except for acute promyelocytic leukemia) is not used in clinical decisions. Available data suggest an alternative classification and model that initially divides AML into two groups not recognized by traditional classification: MDS-related (MDR)-AML and true de novo (TDN)-AML. MDR-AML includes most AML in the elderly, AML following MDS, AML complicating Fanconi's anemia, and a minor subset of AML in children; these subgroups appear to be linked by a common mutator phenotype, common genetic abnormalities, multilineage hematopoietic dysplasia, clonal hematopoiesis, and poor outcome with cytotoxic chemotherapy. TDN-AML includes AML with the common translocations seen in children and young adults; these subgroups lack features of a mutator phenotype, have approximately flat incidence throughout life, have similar genetic abnormalities, lack multilineage hematopoietic dysplasia and clonal hematopoiesis, and often have good outcome with cytotoxic chemotherapy. Progression in TDN-AML appears to consist predominantly of expansion of a transformed clone, while progression in MDR disease appears to consist initially of progressive accumulation of genetic damage, eventuating in malignant transformation to MDR-AML in some cases. This revised model and classification create therapeutically significant disease groups, allow rapprochement of clinical, morphologic, genetic, and biologic findings in AML, provide a rational model for AML, and frame questions that provide logical direction for future diagnostic, therapeutic, and biologic studies in AML.
Leukemia 1996 Nov
PMID:Revised classification of acute myeloid leukemia. 889 88


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