Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of a 37-year-old woman presenting with acute agnogenic myeloid metaplasia (AAMM) is described. The disease had a stormy course and was characterized by moderate splenomegaly, persistently depressed WBC counts, extramedullary hemopoiesis and presence of a high percentage of atypical myeloblasts in the peripheral smear. Platelets were persistently low, reticulocytes significantly below normal, notwithstanding anemia. Hot tended to fall progressively to intolerably low values in the absence of transfusion. The chromosomal mapping of peripheral blood revealed the presence of a trisomy of chromosome No. 8. This abnormality already demonstrated in two previous cases of acute myelofibrosis and the clinical course of the disease suggest that acute myelofibrosis and AAMM could be the same disease while chronic myelofibrosis should be considered a separate entity. Also, it is possible that AAMM with trisomy of chromosome No. 8 and stormy clinical course may be a different entity from the acute myeloproliferative disorders associated with other chromosomal abnormalities.
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PMID:Acute agnogenic myeloid metaplasia with chromosomal abnormalities. 11 13

Statistical analysis of 361 cases of primary leukemia induced in outbred Long-Evans and Sprague-Dawley rats by 7,12-dimethylbenz[a]anthracene (DMBA) and 7,8,12-trimethylbenz[a]anthracene (TMBA) showed that the incidence of trisomy of chromosome No. 2 was significantly lower with TMBA (17.8%) than with DMBA (29.3%). This tendency was reproducible in both sexes. Another characteristic chromosome abnormality, long No. 2, was found in 10 cases (2.8%). Quinacrine fluorescence analysis revealed that cells with No. 2 trisomy or either of two types of long No. 2 had total and partial No. 2 trisomy, respectively. Other chromosome members of cells with long No. 2, as well as the chromosomes of cells with typical No. 2 trisomy and "normal diploid" leukemia cells, revealed no band abnormality. The phenotype of No. 2 trisomy, severe anemia of the hosts reported in DMBA-induced leukemias, was also noted in leukemias with TMBA-induced No. 2 trisomy but not in leukemias with long No. 2.
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PMID:Reproducible chromosome changes of polycyclic hydrocarbon-induced rat leukemia: incidence and chromosome banding pattern. 41 46

We have identified partial trisomy 1q in 2 patients with different hematologic disorders. The first patient was a 55-year-old female with myelosclerosis and myeloid metaplasia diagnosed at age 38 years presenting with anemia, fatigue, bruising, fever, and splenomegaly. At age 56, she had 50--95% myeloblast cells and 95--100 nucleated RBC precursors per 100 WBC. Chromosome analysis of unstimulated leukocytes with Q, G, and C banding showed 46,XX,-6,+t(1;6) (q25;p22) in all metaphase cells. In vitro incorporation of Fe55 was demonstrated 90% of metaphases by autoradiography. The second patient, a 49-year-old male, was diagnosed as having polycythemia vera at age 30 during a regular checkup. He since developed hepatosplenomegaly. Chromosome analysis from a direct bone marrow preparation at age 44 and 45 showed grossly normal karyotypes. At age 49, his marrow by Q and G banding showed almost 100% of cells with 46,XY,-13,+t(1;13) (q12;p12). Eleven cases of trisomy of 1q have been reported in various hematologic disorders. It is apparent that partial trisomy 1q represents another nonrandom chromosomal abnormality, in addition to the most common nonrandom chromosomal aberrations, such as the Philadelphia chromosome, trisomy 8, trisomy 9, and monosomy 7 in hematologic disorders.
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PMID:Partial trisomy of the long arm of chromosome 1 in myelofibrosis and polycythemia vera. 60 27

59 year old female was admitted to Nagoya Memorial Hospital for anemia unknown etiology after the work up of the gastrointestinal tract. Peripheral blood count at admission was as follows: WBC 2,400/microliters, RBC 321 X 10(4)/microliters, Hb 9.8 g/dl, Ht 30.1%, Plt 8.2 X 10(4)/microliters, which showed pancytopenia with normocytic, normochromic anemia. She had no hepatosplenomegaly, vitamin B12 nor folate deficiency. Bone marrow was hyperplastic and showed trilineage megalodysplastic changes. The diagnosis of myelodysplastic syndrome (Refractory anemia) was made. Progenitor assay showed no colony formation of BFU-E but showed normal growth of CFU-GM colony and cluster. She had chromosomal abnormality of 47, XX, + 11. Administrated anabolic steroid, prednine and activated vitamin D3 were not effective and she died of brain hemorrhage in April 1987. Colony assay at this stage showed numerous leukemic clusters and no normal colonies. Re-performed chromosome assay showed 47, XX, + 11. There are only a few reports of trisomy-11 in a patient with MDS. Especially we could follow this case till her leukemic transformation by colony assay.
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PMID:[Abnormal cluster formation in a patient with myelodysplastic syndrome with trisomy-11--periodical approach by colony assay]. 236 44

A 50-year-old woman presented with anemia and eosinophilia. Her bone marrow biopsy, peripheral blood, and clinical features were consistent with a diagnosis of an evolving acute myelogenous leukemia. Striking dysplastic eosinophilic differentiation associated with trisomy-1 was evident, and eosinophil granule major basic protein was detected in involved tissue. Trisomy-1 has not been previously reported in association with acute myelogenous leukemia showing eosinophilic differentiation. Intensive cytotoxic chemotherapy produced a short-lived clinical and cytogenetic remission. At autopsy multiple tumor nodules composed of dysplastic eosinophil precursors and myeloblasts were evident in multiple organs.
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PMID:Acute myelogenous leukemia with eosinophilic differentiation and trisomy-1. 305 18

The development of B-cell chronic lymphatic leukemia in two patients who had previously been treated for Hodgkin's disease is described. In both cases aneuploidy and multiple chromosome aberrations of hemopoietic cells were evident. In one patient these changes included a clonal 14q + abnormality in association with other complex rearrangements, interpreted as translocation abnormalities involving t(6;14), 5(1;15), and t(17;19). Although the chromosome abnormalities in the other patient were nonclonal, a 14q abnormality also was detected, namely t(14q+;18q-). Other chromosome abnormalities (all nonclonal) in the two patients included translocations involving chromosome 5 and deletion of 7q in one patient and trisomy of chromosome 8 in the other. Although these abnormalities have been associated with the presence or development of non-Hodgkin's lymphoma, acute nonlymphoblastic anemia, or myelodysplastic disorders, the findings in these patients suggest that the detection of clones and potential clones with these abnormalities may be only one stage in the development of secondary malignancy.
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PMID:B-cell chronic lymphatic leukemia in Hodgkin's disease. A report of two patients with unusual chromosome features. 380 34

Chronic lymphocytic leukemia is recognized as having a variable prognosis, but its staging has depended exclusively on anatomical sites of involvement and the presence or absence of anemia and thrombocytopenia. The recent availability of techniques permitting cytogenetic analysis of malignant B lymphocytes led us to examine the karyotypic abnormalities in chronic lymphocytic leukemia and to correlate them with clinical stage, progression of disease, and survival. Of 53 patients with metaphases adequate for study who were followed for a minimum of one year, 21 (40 per cent) had abnormal karyotypes, of which trisomy 12 was the most frequent (25 per cent). Abnormal karyotypes were found to be significant correlates of advanced clinical stage (P less than 0.005) and of shortened survival (P less than 0.05). We conclude that cytogenetic analysis provides useful clinical and prognostic information in patients with chronic lymphocytic leukemia.
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PMID:Prognostic importance of cytogenetic abnormalities in patients with chronic lymphocytic leukemia. 669 Sep 52

Organ cultures of chick and rabbit embryonic skin were used to assess the tumorigenicity of cultured human cell lines. Cell lines were from patients with (1) specific chromosomal abnormalities and an increased risk of cancer (Down's syndrome, Klinefelter's syndrome, Partial D Trisomy, Bloom's syndrome, Franconi's anemia, ataxia telangiectasia and xeroderma pigmentosum); (2) a specific chromosomal abnormality but no increased risk for cancer (Cri du chat), and (3) a biochemical defect (galactosemia). In addition, tumor cell lines and cell lines of normal origin were used as positive and negative standards. Mitotic ability was quantified by dividing the total number of mitoses in the cell inoculum seen in histologic sections by the number of sections examined to give a computed mean number of mitoses per section (MMS). Neoplastic cell lines showed MMS values greater than 1.0 while cell lines of normal origin were less than 0.25. The cell lines derived from patients with chromosomal abnormalities and the patient with a biochemical defect, whether the individuals were at an increased risk for cancer or not, gave the same range of MMS values as obtained for cells of normal origin. These results that chromosomal aberrations per se do not enhance the cell's capability for proliferation on a xenogenic substrate.
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PMID:Tumorigenicity of chromosomally abnormal human cultured cells in two xenogenic organ culture assays. 720 52

We report a familial recombination of a pericentric inversion of chromosome 10 resulting in 2 affected relatives who had 10p trisomy and 10q monosomy with the karyotypic abnormality designated rec(10) dup p,inv(10) (p11.2q26). Both of these individuals had the typical characteristics of 10p trisomy, however, at birth the proposita had mild facial anomalies suggesting that the distinct facial characteristics may be of postnatal onset in some cases. In addition, the proposita had gastroesophageal reflux causing severe anemia. The phenotype of our patients is compared to 41 patients with 10p trisomy reported in the literature.
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PMID:Familial 10p trisomy resulting from a maternal pericentric inversion. 820 87

Three patients, with constitutional trisomy 8 mosaicism (CT8M), who developed a malignancy are reported. The diagnoses were refractory anaemia, acute lymphoblastic leukaemia, and idiopathic myelofibrosis. In the child with acute leukaemia, the CT8M was diagnosed at birth due to severe dysmorphisms and malformations; the other two patients showed a milder phenotype, and the CT8M was diagnosed only after the finding of trisomy 8 in neoplastic cells. The review of eight similar, previously reported cases and the clinical, cytogenetic, and molecular studies performed in our patients led us to make the following observations: (I) CT8M predisposes to neoplasms, preferentially to myelo- or lymphoproliferative diseases; (2) a gene dosage effect for glutathione reductase in red blood cells was seen in two of our patients; (3) the wide phenotypic variation of CT8M was confirmed: trisomy 8 in neoplastic cells of phenotypically near-normal cases may be misinterpreted as acquired; and (4) molecular studies suggested a postzygotic origin of the trisomy in our three cases, with the supernumerary chromosome being of paternal origin in one case and of maternal origin in the other two. We postulate that the trisomy 8 in neoplasms may often occur by mitotic nondisjunction in an early embryonic multipotent cell and that what is usually interpreted as an acquired trisomy 8 may in fact be CT8M. The constitutional trisomy 8 would act as a pathogenetically important first mutation in multistep carcinogenesis. Whenever trisomy 8 is found in malignancies, the patient should be reevaluated clinically to exclude CT8M, and CT8M patients should be monitored for the possible development of malignancies.
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PMID:Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases. 891 26


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