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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Conflicting results have been published on whether or not myelodysplastic syndromes (MDS) affect all cell lineages. Involvement of myeloid and erythroid cell lineages has been regularly observed, but it remains controversial whether the different lymphoid cell lineages are involved. In this study of eight patients with MDS associated with monosomy 7, fluorescent in situ hybridization (FISH) was used to enumerate the chromosomes 7 in interphase cells. With the probe D7Z1, the rate of false-positive detection of monosomy 7 was 3% +/- 2% in normal cells. T- and B-cell lines were established from eight patients with MDS and monosomy 7. As determined by FISH in interphase cells, 1.9% (0% to 3%) of the cells in the B-cell lines showed one fluorescent spot and 1.1% (0% to 2.9%) of the cells in the T-cell lines. These values do not differ from normal values. However, the possibility that normal cells were selected when the T- and B-cell lines were established could not be excluded. Therefore, peripheral blood cells were obtained, separated according to surface markers specific for lymphoid and myeloid cell lineage with a cell sorter, and analyzed for the expression of monosomy 7 by FISH. Antibodies recognizing T cells (CD3), B cells (CD20), natural killer (NK) cells (CD57), monocytes and granulocytes (low and high expression of CD11b antigen), and myeloid progenitors (CD33) were used to separate cells. The expression of monosomy 7 in the T cells, NK cells, and B cells did not differ from control values. These results in the lymphoid subpopulations are in stark contrast with the observations in the myeloid populations; the percentage of cells with monosomy 7 ranged from 9% to 78% (controls: 6% +/- 2%) in cells with low CD11b expression, 20% to 89% in cells with a high expression of the CD11b antigen (controls: 7% +/- 3%), and 23% to 91% in the CD33 positive cells (controls: 5% +/- 3%). The results of this study suggest that monosomy 7 does not usually affect lymphoid subpopulations but is restricted to committed progenitor cells with the capacity to differentiate into mature myeloid cells.
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PMID:Clonal analysis of myelodysplastic syndrome: monosomy 7 is expressed in the myeloid lineage, but not in the lymphoid lineage as detected by fluorescent in situ hybridization. 161 Oct 87

In myelodysplastic syndromes, several autoimmune phenomena are more common than expected. Lymphocyte subsets are sometimes abnormal in number and function. Associated lymphoid malignancies and lymphoblastic evolution have occasionally been reported. Molecular studies suggest that the lymphoid system may be involved in the dysplastic process.
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PMID:Immunologic abnormalities in myelodysplastic syndromes. 161 7

Myelodysplastic syndrome (MDS) combined with monoclonal gammopathy or multiple myeloma has rarely been reported. In this article, two siblings, a brother and his sister who showed simultaneous occurrence of MDS and monoclonal gammopathy are reported. The first case, a 73-year-old male, was admitted to our hospital in November, 1987. Analysis of peripheral blood revealed pancytopenia without blast cells. Bone marrow was hypocellular with 14.9% of myeloblasts and 2.8% of plasma cells characterized by 2 to 4 nuclei. Serum IgA level was 635 mg/dl and serum immunoelectrophoresis revealed a monoclonal IgA lambda band. The second case, a 70-year-old female, younger sister of the first case, was admitted to our hospital in January, 1988. Bone marrow was normocellular with 23% of peroxidase-negative myeloblasts and 12.8% of atypical plasma cells. Serum IgG level was 1,901 mg/dl with monoclonal IgG kappa band. Hematological findings have remained unchanged for 12 months. The first case was regarded as hypoplastic MDS with monoclonal gammopathy and the second case was MDS with smoldering myeloma. These cases were very similar with in respect to age, time of onset, clinical course, hematological findings and especially, association with M-protein. There are no reports concerning the familial incidence of MDS with M-protein. These findings supported the hypothesis that an initial event selects a clone of stem cells which retain the capability to differentiate into mature myeloid and lymphoid cells, in these cases B-cells.
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PMID:[Familial occurrence of myelodysplastic syndrome concomitant with monoclonal gammapathy]. 163 65

To determine whether patients with acquired asplastic anemia (AA) exhibit clonal hematopoiesis, we used restriction fragment length polymorphisms of the X-linked genes phosphoglycerate kinase (PGK1) and hypoxanthine phosphoribosyltransferase (HPRT) and the X-linked probe M27 beta. Of the 19 female patients studied, 18 (95%) patients were informative for at least one marker. Of these, eight patients (42%) were heterozygous for PGK1, two (11%) for HPRT, and 16 (84%) for M27 beta. In 13 (72%) patients, a monoclonal pattern was found. Analysis of purified cell suspensions of four of these patients showed that both myeloid and lymphoid cells were of monoclonal origin, indicating the involvement of an early stem cell. The four patients who were studied at presentation all showed a monoclonal pattern. One of these patients showed a spontaneous recovery despite persistent clonal hematopoiesis. The presence of either clonal or polyclonal hematopoiesis did not show a correlation with the response to antithymocyte globulin (ATG) treatment. A relapse after ATG was also seen in a patient exhibiting polyclonal hematopoiesis. Conversely, a monoclonal pattern did not preclude the occurrence of a partial or complete response to ATG. Other potential markers to study clonality, including cytogenetic abnormalities or point mutations of the N-ras protooncogene, were not found in any of the patients. It is concluded that patients with AA may exhibit clonal hematopoiesis. The significance with respect to evolution to disorders with clonal hematopoiesis like paroxysmal nocturnal hemoglobinuria, myelodysplasia, and acute leukemia remains to be determined.
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PMID:Clonal hematopoiesis in patients with acquired aplastic anemia. 163 35

The retinoblastoma-susceptibility (Rb) gene is an antioncogene that is frequently altered in retinoblastomas, sarcomas, and some epithelial tumors. We examined the structure of the Rb gene by Southern blotting in 215 cases of leukemias and lymphomas of diverse phenotype and in 15 leukemic cell lines. In selected cases Rb protein expression was examined with specific monoclonal antibodies. Structural abnormalities of the Rb gene with absent protein expression were frequent in all types of human acute leukemia, but were particularly common (27% incidence) in M4 and M5 myeloid leukemia with monocytic differentiation and in Philadelphia chromosome (Ph1)-positive leukemia of lymphoid phenotype (11% to 29% incidence). Changes in Rb were observed early in the transition to acute leukemia in cases of myelodysplastic syndrome and in the accelerated phase of chronic myelocytic leukemia in transition to blast crisis. In one case, molecular changes in Rb could be correlated with leukemia remission and relapse. We conclude that the Rb antioncogene is commonly involved in the evolution of human acute leukemias, particularly in those of a monocytic phenotype and in lymphoid leukemia in which there is an antecedent alteration of the Ph1 chromosome.
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PMID:Abnormalities of the retinoblastoma gene in the pathogenesis of acute leukemia. 168 97

Karyotypic abnormalities in primary myelodysplastic syndrome (P-MDS) are less frequent than in secondary myelodysplasia. A review of the literature involving over 3000 reported cases, shows the incidence of karyotypically abnormal clones at presentation in nearly 48% of cases. Approximately 50% of the abnormalities comprise of deletions of chromosomes 5, 7, 11, 12, 13 and 20. Localisation of a number of haemopoietic growth factors and their receptors to the deleted segments of the chromosomes, has invoked considerable interest in the molecular pathology of the interstitial deletions and their consequent role in the multistep pathogenesis of MDS. Present evidence suggests chromosome abnormalities are a later event in the multistep painogenesis, and it is suggested their occurrence may be restricted to a restricted myeloid progenitor cell, although the initial event(s) occur at the common lymphoid-myeloid progenitor. Much has been gleaned from the dominant modes of leukaemogenesis, such as the occurrence of missense mutations at specific positions of RAS and FMS mutations. It is suggested that a similar enquiry into the mechanisms of chromosomal deletions in P-MDS is required in order to delineate the role of these abnormalities in the clonal evolution of this group of diseases.
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PMID:Chromosomal deletions in the myelodysplastic syndrome. 173 67

MDS is primarily a disease of the elderly. Cases who give a history of exposure to X-rays, cytotoxic drugs or leukaemogenic chemicals may be younger. Many cases of MDS present because of an incidental blood count. The most prominent clinical features are those of anaemia, neutropenia, thrombocytopenia. Because haemopoietic tissue is also dysfunctional the pathological effect is often greater than the figures would suggest, even leading to infection of bleeding with normal neutrophil or platelet counts. Occult abscesses are a particular feature. Despite documented abnormalities of the lymphoid system, neither infections characteristic of T-cell immunodeficiency nor autoimmunity is a problem. The proliferation of monocytes in CMML leads to organomegaly, leukaemia cutis, serous effusions and vasculitic lesions caused by the mishandling of circulating immune complexes. Cancer is no commoner than in age-matched controls, but coincident lymphoid tumours do occur. Many patients require long-term blood transfusion and will run into problems of iron overload unless precautions are taken.
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PMID:Clinical features of MDS. 173 80

Bone marrow biopsies from eighty-five patients with different stages of HIV infection were reviewed. Biopsies were generally indicated to evaluate peripheral blood abnormalities, but suspicion of lymphoma and other specific pathologies was another important indication. The histopathological features are described and are often suggestive of HIV infection but non-specific. Hypercellularity (72.9%), dysmyelopoiesis (78.8%), plasma cell hyperplasia (97.7%), lymphoid infiltration (27%) and histiocytosis with or without granulomata (11.7%) were the most striking abnormalities. Other frequent features include: increased stainable iron deposits, venous stasis and serous atrophy (gelatinous transformation). Marrow hypoplasia is rather infrequent (28.2%) and usually a terminal event of AIDS. Bone marrow biopsies revealed opportunistic and neoplastic complications in seven cases, with demonstration of pathogens in four cases (Mycobacterium avium, Cryptoccocus neoformans, Toxoplasma gondii and Leishmania donovanii) and malignant lymphomas in three other cases (one Burkitt's lymphoma and two Hodgkin's disease). Bone marrow biopsy provides useful information for the diagnosis and prognosis of HIV infection and for the diagnosis of complications.
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PMID:[Bone marrow changes at several stages of HIV infection, studied on bone marrow biopsies in 85 patients]. 175 64

The authors compared bone marrow histological changes in 28 cases of myelodysplastic syndrome (MDS), 21 cases of aplastic anemia and 8 cases of hemolytic anemia. It is shown that abnormal localization of immature precursors (ALIP) is a characteristic change in MDS. The presence of erythroblastic islands and the variance of morphology of megakaryocytes are valuable for diagnosis. The histological method for the observation of lymphoid micromegakaryocytes is not so accurate as cytological method. "ALIP" can more or less help to evaluate the prognosis of MDS. According to the histological changes, it is easy to differentiate the three types of anemia we studied.
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PMID:[Bone marrow histological changes in myelodysplastic syndrome and its clinical significance]. 181 70

The pattern of immunoglobulin (Ig) and T cell receptor (TCR) gene rearrangements was determined in 87 patients with acute and chronic leukaemias and myelodysplastic syndromes by Southern blot hybridisation. All 31 cases of common, B cell and null cell acute lymphoblastic leukaemia, and B cell chronic lymphocytic leukaemia showed Ig heavy chain (JH) rearrangement, and TCR (beta-chain) rearrangement was seen in all 5 cases of T cell acute lymphoblastic leukaemia. Inappropriate JH and TCR (beta) rearrangements were present in some cases of T-ALL (60%) and common acute lymphoblastic leukaemia (18%), respectively. For the 19 patients with acute leukaemias following chronic myeloid leukaemia, blastic transformation, all 4 with lymphoid transformation and 3 of the 15 with myeloid transformation had JH rearrangement, and 3 CD10-positive lymphoid transformation and 2 myeloid transformation had their TCR (beta) genes rearranged. In conclusion, the pattern of Ig and TCR gene rearrangements correlated well with the cell lineage. However, cross-lineage rearrangements were more commonly seen in patients with acute leukaemias following chronic myeloid leukaemia blastic transformation, as compared to the de novo cases.
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PMID:Rearrangement of immunoglobulin and T cell receptor genes in acute and chronic leukaemias. 185 Sep 43


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