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)

Fanconi's anemia (FA) is an autosomal recessive disorder characterized by constitutional aplastic anemia and congenital abnormalities. Patients with this disorder are prone to develop leukemia. Besides the risk of squamous cell carcinoma (SCC), development especially in the head and neck region is also increased. Up to now 40 patients with FA have been reported to develop SCC, and in 14 of them the tongue was the primary site. All of the reported SCC in FA patients originated in mucosal and mucocutaneous sites, especially oral (n=25) and anogenital sites (n=8) and the esophagus (n=6), with the exception of two patients with multiple cutaneous involvement. We report a new case of SCC of the tongue in a patient with FA and review the previous SCC cases.
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PMID:Squamous cell carcinoma of the tongue in a patient with Fanconi's anemia: a case report and review of the literature. 1202 42

Five patients with confirmed Fanconi's anemia (FA) and myelodysplasia and/or leukemia underwent stem cell transplantation (SCT) from related donors at KFSHRC. The median age at SCT was 12.6 year (range, 6.2-15 years). Conditioning regimen consisted of cyclophosphamide (CY) 5 mg/kg/day i.v. for 4 days, total body irradiation (TBI) 450 cGy in a single dose. Graft-versus-host disease (GVHD) prophylaxis was with cyclosporine and antithymocyte globulins (ATG). The median time to engraftment (defined as ANC>/=0.5 x 10(9)/l) was 16 days (range, 12-26 days). The median time to a self-sustaining platelet count of >/=20 x 10(9)/l was 27 days (range, 12-40 days). All patients engrafted. Two patients developed acute GVHD; one of the gut (grade 3) and the other of the skin (grade 1), and one patient developed chronic GVHD of the liver. Four are alive and well with no evidence of the disease; one patient died of bacterial sepsis after controlling her GVHD and clearing her pulmonary aspergillosis and CMV infection. We conclude that the use of low-dose CY plus TBI in patients with FA and MDS/AML undergoing SCT is adequate; the regimen is well tolerated and may be curative for such patients.
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PMID:Allogeneic stem cell transplantation in patients with Fanconi's anemia and myelodysplasia or leukemia utilizing low-dose cyclophosphamide and total body irradiation. 1457 32

Adult-acquired Fanconi syndrome (FS) is a rare complication of monoclonal gammopathy. We retrospectively reviewed 32 patients diagnosed with adult-acquired FS between April 1968 and June 2002 at Mayo Clinic (Rochester, MN). At diagnosis, most patients had monoclonal gammopathy of undetermined significance (MGUS) or smoldering multiple myeloma (SMM), with a median creatinine level of 176.8 microM (2.0 mg/dL; range, 79.56-327.08 microM [0.9-3.7 mg/dL]) and evidence of osteomalacia. During the average 65 months (range, 2-238 months) of follow-up, 5 patients developed end-stage renal disease (ESRD) and only 1 of 14 patients with MGUS transformed to multiple myeloma (MM). Also, 14 deaths occurred, with only 1 from ESRD but 4 from alkylator-related leukemia or myelodysplastic syndrome. Chemotherapy offered little benefit on renal functions of MGUS or SMM patients. In conclusion, FS associated with monoclonal gammopathy does not appear to confer an additional risk of subsequent evolution to MM. ESRD occurs late in the disease process.
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PMID:Acquired Fanconi syndrome is an indolent disorder in the absence of overt multiple myeloma. 1501 Mar 72

The breast cancer susceptibility gene BRCA2 has recently been identified as identical to the Fanconi anemia (FA) gene FANCD1. Here we expand the clinical implications of this discovery. Notably, we identified 6 children in 5 kindreds exhibiting the co-occurrence of BRCA2 mutations, FA, and early onset acute leukemia. Leukemia occurred at a median of 2.2 years of age in the BRCA2 patients in contrast to a median onset of 13.4 years in all other FA patients in the International Fanconi Anemia Registry (IFAR; P <.0001). Breast cancer was noted in 4 of the 5 kindreds. Of the 6 children with leukemia, 4 were treated with bone marrow transplantation and 2 are alive at 3 and 9 months after treatment. Our results suggest that BRCA2 testing should be considered in all patients with FA in whom the complementation group cannot be defined or in whom leukemia is diagnosed at or before 5 years of age.
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PMID:Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. 1507 Jul 7

The first successful transplantation of umbilical-cord blood (CB) was performed in 1988 to treat a boy with Fanconi's anemia, using CB from his HLA full-matched sister. A few years later, CB transplantation (CBT) was also performed in an adult recipient, however major obstacles still prevent a wider application of CBT in this age group. The principle limiting-factor is the low numbers of nucleated (NC) and CD34+ cells available for transplantation compared to a typical bone marrow (BM)/peripheral blood (PB) allograft, resulting in a lower engraftment success as well as delayed hematopoietic recovery with its characteristic complications, including infections and transplant related mortality (TRM). Other problems include uncertainty regarding potency and efficacy of graft versus leukemia (GvL)/tumor effects in this kind of transplant, considering the reduced graft versus host disease (GvHD) manifestations and immunologic prematurity. These subjects are reviewed with orientation to technical methods directed to improve CB grafts and graft engineering.
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PMID:Unrelated and related cord blood banking and hematopoietic graft engineering. 1525 67

Cytomegalovirus (CMV) pneumonia is one of the most common pulmonary complications after bone marrow transplantation (BMT). We describe the high resolution CT (HRCT) findings of 13 patients with CMV pneumonia diagnosed after allogenic BMT. The study included 13 consecutive patients who developed CMV pneumonia after BMT and who had HRCT of the chest performed within 24 h of the onset of symptoms. HRCT scans were reviewed by two radiologists who assessed pattern and distribution of findings. There were nine male and four female patients, ranging from 9 years to 56 years of age (mean age 33 years). BMT was performed for treatment of chronic myelogenous leukaemia (54%), severe aplastic anaemia (23%), acute myelogenous leukaemia (15%) and Fanconi's anaemia (8%). The time elapsed until diagnosis ranged from +18 days to +405 days (median of 54 days, mean +81.6 days). The predominant patterns of abnormality on HRCT scans were ground-glass opacities (69%), small centrilobular nodules (69%) and air-space opacities (54%). The abnormalities were distributed in the central and peripheral zones of the lungs in six cases, only in the periphery in four cases, and only in the central zone in three cases. In all cases the lung lesions were bilateral, and asymmetry was observed in seven cases. The authors conclude that the most common HRCT findings in patients with CMV pneumonia after BMT consist of bilateral asymmetric ground-glass, air-space opacities and small centrilobular nodules.
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PMID:Cytomegalovirus pneumonia after bone marrow transplantation: high resolution CT findings. 1544 56

Fanconi anemia (FA) is an autosomal recessive disorder that is defined by cellular hypersensitivity to DNA cross-linking agents, and is characterized clinically by developmental abnormalities, progressive bone-marrow failure, and predisposition to leukemia and solid tumors. There is extensive genetic heterogeneity, with at least 11 different FA complementation groups. FA-A is the most common group, accounting for approximately 65% of all affected individuals. The mutation spectrum of the FANCA gene, located on chromosome 16q24.3, is highly heterogeneous. Here we summarize all sequence variations (mutations and polymorphisms) in FANCA described in the literature and listed in the Fanconi Anemia Mutation Database as of March 2004, and report 61 novel FANCA mutations identified in FA patients registered in the International Fanconi Anemia Registry (IFAR). Thirty-eight novel SNPs, previously unreported in the literature or in dbSNP, were also identified. We studied the segregation of common FANCA SNPs in FA families to generate haplotypes. We found that FANCA SNP data are highly useful for carrier testing, prenatal diagnosis, and preimplantation genetic diagnosis, particularly when the disease-causing mutations are unknown. Twenty-two large genomic deletions were identified by detection of apparent homozygosity for rare SNPs. In addition, a conserved SNP haplotype block spanning at least 60 kb of the FANCA gene was identified in individuals from various ethnic groups.
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PMID:Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. 1564 9

Patients with Fanconi's Anemia (FA) have high rates of congenital physical abnormalities, bone marrow failure, leukemia, and solid tumors. Stem cell transplant (SCT) is often effective in curing bone marrow failure, but high-risk patients, particularly those whose donor is not a human leukocyte antigen matched sibling, are vulnerable to early mortality from transplant-related complications. Long-term survivors of SCT have risks of solid tumors (particularly of the oral cavity), which are even higher than the already high 'baseline' risk of neoplasia in untransplanted FA patients. In this group, the major types of cancer are head and neck squamous cell carcinomas, and gynecologic malignancies. Rapid evaluation of new SCT preparative regimens would be useful in improving both short-term and long-term results.
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PMID:Fanconi's anemia, transplantation, and cancer. 1630 22

Fanconi's anemia (FA) is a genetic autosomal recessive disorder, characterized by progressive bone marrow failure, congenital abnormalities, growth retardation, and predisposition to leukemia and solid tumors. The purpose of this study was to compare the chronological age (CA), bone age (BA), and dental age (DA) of FA patients and to determine whether the therapy received influenced the BA or DA. Thirty FA patients were evaluated and divided into three groups according to the therapy received. Hand and wrist radiographs for BA estimation and panoramic radiographs for DA estimation were taken. Statistical analysis demonstrated that mean values for CA, BA, and DA were 8.91 years old, 7.90 years old, and 7.75 years old, respectively, indicating low mean values for BA and DA in comparison with CA (P<0.01). The therapy given to the patient did not influence the BA or DA. BA and DA are delayed and are not influenced by the therapy given.
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PMID:Comparative study of chronological, bone, and dental age in Fanconi's anemia. 1667 27

Fanconi's anemia is one of the inherited causes of bone marrow failure. It is inherited in autosomal recessive fashion. It presents as aplastic anemia usually at the age of 7-8 yr. Leukemias and solid tumours are complications in those who manage to survive beyond two decades. Though it has been seen in siblings, reports in monozygotic twins have been very few.
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PMID:Fanconi's anemia in monozygotic twins. 1790 75


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