Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A favorable prognosis and a low rate of leukemic transformation has been attributed to the 5q- syndrome, a myelodysplastic syndrome (MDS) characterized by macrocytic anemia, hypolobulated micromegakaryocytic hyperplasia, and an interstitial deletion of chromosome 5. We examined the characteristics and outcome of 43 consecutive patients in our institution strictly defined by morphologic criteria and a solitary 5q- cytogenetic defect. The median age at diagnosis was 68 years, with a clear female predominance (7:3). Eighty percent of the patients were red blood cell transfusion-dependent at diagnosis and all untransfused patients had macrocytic indexes. In contrast, significant neutropenia or thrombocytopenia was rare. The French-American-British (FAB) class distributions were RA (72%), RARS (7%), RAEB (16%), and RAEB-IT (5%). At a median follow-up of 31 months, 56% of the patients survive, with a projected median survival of 63 months. The incidence of acute leukemia was 16% and was uniformly fatal. Clinical hemosiderosis occurred in 28% of the patients, resulting in two deaths. Neither survival nor the risk of leukemic transformation was predictable from initial clinical parameters, including FAB classification, Bournemouth score, and degree of aneuploidy. The lack of significant neutropenia and thrombocytopenia seemed to account for a very low incidence of infection and bleeding resulting in a prognosis equal or superior to historical patients with MDS. Therapeutic endeavors, including the use of corticosteroids, androgens, cis-retinoic acid, pyridoxine, and danazol, were largely unsuccessful.
 ...
PMID:The 5q- syndrome: a single-institution study of 43 consecutive patients. 842 85

AZT has induced a macrocytic anemia in AIDS patients on long term AZT therapy. It is generally assumed that DNA elongation is stopped by the insertion of AZT into the chain in place of thymidine thus preventing the phosphate hydroxyl linkages and therefore suppresses hemopoietic progenitor cell proliferation in an early stage of differentiation. CBA/Ca male mice started on AZT 0.75 mg/ml H2O at 84 days of age and kept on it for 687 days when dosage reduced to 0.5 mg/ml H2O for a group, another group removed from AZT to see recovery, and third group remained on 0.75 mg. At 687 days mice that had been on 0.75 mg had average platelet counts of 2.5 x 10(6). Histological examination on 9 of 10 mice with such thrombocytopenia showed changes compatible with myelodysplastic syndrome (MDS). A variety of histological patterns was observed. There were two cases of hypocellular myelodysplasia, two cases of hypersegmented myelodysplastic granulocytosis, two cases of hypercellular marrow with abnormal megakaryocytes with bizarre nuclei, one case of megakaryocytic myelosis associated with a hyperplastic marrow, dysmyelopoiesis and a hypocellular marrow and two cases of myelodysplasia with dyserythropoiesis, hemosiderosis and a hypocellular marrow. Above mentioned AZT incorporation may have induced an ineffective hemopoiesis in the primitive hemopoietic progenitor cells, which is known to be seen commonly in the myelodysplastic syndrome.
 ...
PMID:Lifetime treatment of mice with azidothymidine (AZT) produces myelodysplasia. 920 18

During 1990 to 1993, five patients who had been treated in our hospital for aplastic anemia (AA) with a normal karyotype, were found to have hypoplastic myelodysplastic syndromes (hMDS); three patients with RA, one RAEB, and one RAEB-T, and all of them have chromosomal abnormalities. The mean age of the hMDS patients (4 men, 1 woman) was 51.0 years (range 31-61). We retrospectively studied the hematological features of the 5 cases in the early stage without chromosomal abnormalities. They showed, 1) appearance of erythroblasts (3/5), 2) more reticulocyte counts than typical AA (mean 7.8 x 10(4)/microliter), 3) macrocytic anemia (mean MCV 106fl) in peripheral blood, 4) relative erythroid hyperplasia (M/E ratio 0.2-1.5), and 5) low lymphocyte counts (mean percentage of lymphocytes 32, 8%) in bone marrow. Considering about the differences or transformation between AA and hMDS, it is interesting that all five patients have initially had a normal karyotype and subsequently developed chromosomal abnormalities.
 ...
PMID:[Hematological characteristics of hypoplastic MDS patients with chromosomal abnormalities, who had been followed for aplastic anemia with normal karyotypes]. 945 42

The 5q- syndrome is a myelodysplastic disorder characterized by macrocytic anemia, hypolobulated micromegakaryocytic hyperplasia, and an interstitial deletion of chromosome 5 as a solitary cytogenetic abnormality. The majority of patients with this syndrome are elderly women exhibiting red blood cell transfusion-dependent refractory anemia with a normal-to-increased number of platelets and modest granulocytopenia. The prognosis is relatively favorable with a low incidence of leukemic transformation. We report on a patient with 5q- syndrome associated with autoimmune hemolytic anemia (AHIA) and severe erythroid hypoplasia mimicking pure red cell aplasia (PRCA). A 65-year-old woman was admitted because of severe anemia. Elevated serum levels of LDH and indirect bilirubin, and a positive direct Coombs' test suggested AIHA associated with a huge ovarian dermoid cyst. However, lack of peripheral reticulocytes and bone marrow eryhroblasts, characteristic megakaryocytic morphology, and solitary 5q- anomaly favored a diagnosis of 5q- syndrome complicated by PRCA-like feature. Underlying immunological abnormalities ascribed to aberrant lymphoid clones intrinsic to MDS may be responsible for red cell aplasia and autoantibodies against red blood cells.
 ...
PMID:[The 5q- syndrome associated with marked erythroid hypoplasia and Coombs test positive hemolysis]. 1042 88

Severe aplastic anemia is a well-recognized complication of ticlopidine therapy that carries a high mortality. Therapy with colony-stimulating factors or corticosteroids has been largely ineffective in this disorder. We report a case of ticlopidine-induced aplastic anemia that was successfully treated with cyclosporine and high-dose dexamethasone. The patient rapidly responded to immunosuppressive therapy and had a normal hemogram after cessation of immunosuppression. On long-term follow-up, the patient developed a progressive macrocytic anemia. Repeat bone marrow evaluation demonstrated myelodysplasia with erythroid hypoplasia. An associated chromosomal abnormality consisting of a t(3;16) (q21; p13.3) translocation was detected. This is the first report of a chromosomal abnormality associated with ticlopidine induced marrow aplastic anemia.
 ...
PMID:Ticlopidine-induced aplastic anemia: development of chromosomal abnormalities and response to immunosuppressive therapy. 1067 4

Megaloblastic anemia (MA) due to vitamin B12 deficiency is a reversible form of ineffective hematopoiesis. Myelodysplastic syndrome (MDS) is an acquired, irreversible disorder of ineffective hematopoiesis, characterized by stem cell dysfunction as a consequence of DNA damage manifested in part by karyotype anomalies. Importantly, MA and MDS are generally considered mutually exclusive diagnoses. We report the case of a 73-year-old woman with a profound macrocytic anemia, monocytosis and neurologic symptoms. Low cobalamin levels and the presence of anti-intrinsic-factor antibodies definitively established a diagnosis of pernicious anemia. Replacement therapy resulted in resolution of neurologic findings and macrocytosis; however, the anemia and monocytosis persisted. Bone marrow biopsy revealed trilineage myelodysplasia, which together with the peripheral monocytosis suggested a diagnosis of chronic myelomonocytic leukemia. Karyotype analysis revealed a clone with 45, XX, +der(1;7)(q10;p10)-7 [20]. Eighteen months after documented vitamin B12 replenishment her MDS transformed to terminal acute myeloid leukemia with the same clonal abnormality. Reversible cytogenetic abnormalities have been observed with MA, occasionally including karyotypes typically associated with MDS or myeloid leukemias. These abnormalities, like the anemia, resolve with vitamin replacement. This case suggests that MA and MDS can occur simultaneously; clinicians should be aware that this phenomenon occurs. Whether acquired karyotype abnormalities from the MA were related to the MDS and subsequent myeloid leukemia in this woman is a speculative but intriguing consideration that is discussed.
 ...
PMID:Concurrent pernicious anemia and myelodysplastic syndrome. 1140 Oct 93

The aim of this study was to test the clinical utility of reticulocyte maturation parameters in the differential diagnosis of macrocytic anemias. Using an automated reticulocyte counter, we analyzed immature reticulocyte fraction (IRF), mean reticulocyte volume (MRV) and mean fluorescence index (MFI) in peripheral blood samples from healthy donors (n = 30), patients diagnosed with myelodysplastic syndromes (MDS, n = 35), with megaloblastic anemia (MA, n = 10) and with non-megaloblastic macrocytic anemias (NMMA, n = 30). Macrocytic anemias due to ineffective erythropoiesis (MA and MDS) showed reticulocytes skewed to a more immature fraction. Therefore, they have a larger volume and a greater RNA content than healthy controls. Interestingly, reticulocytes in both low and high risk MDS are significantly larger (127.3 vs. 118.3 fl, P < 0.01) and have a greater RNA content (MFI 20.5 vs. 12.9, P < 0.01 and IRF 22.5 vs. 9.1%, P < 0.01) than NMMA patients. We conclude that measurement of reticulocyte maturation parameters may be a very useful tool in the differential diagnosis of macrocytic anemia. The presence of extremely high values of IRF (>16%), MFI (>18) and MRV (>129 fl), makes the diagnosis of NMMA very unlikely. An underlying MDS should, therefore, be sought.
 ...
PMID:Utility of reticulocyte maturation parameters in the differential diagnosis of macrocytic anemias. 1527 70

Over the last 20 years a vast array of data has been accumulated on the efficacy of hydroxyurea (HU) in patients with Philadelphia-negative myeloproliferative disorders (MPD). However, several side effects have been described as well. Besides many anecdotal reports, no evaluation of their prevalence and type exists in large series of treated patients. We report here the side effects of HU in a retrospective, single institution, cohort study of 152 patients suffering from MPD with thrombocytosis (median follow-up 8.13 years). In 6.5% of patients drug failure was registered. Unwanted side-effects (five symptomatic macrocytic anemia, two fever reactions, two allergic reactions, four cases each of leg painful ulcers, three acute leukemia or myelodysplasia) induced to withdraw therapy in 16 patients. Three cases of nail pigmentation were observed. In our experience, HU showed to be an effective and safe drug in most patients with MPD. Prompt recognition of side effects, which have been mostly minor and rapidly subsiding on drug withdrawal, is in any case crucial to avoid more severe complications.
 ...
PMID:Toxicity and side effects of hydroxyurea used for primary thrombocythemia. 1601 62

This report is of a case of myelodysplastic syndrome occurring in a 63 year old female on long-term valproic acid therapy for seizure disorder. Valproic acid therapy is widely prescribed for seizure disorders and is often associated with thrombocytopenia, macrocytic anemia and a reversible dysmyelopoiesis. There are rare reports in the literature of acute myeloid leukemia arising in patients treated with valproic acid. This case represents the first case report of a cytogenetically confirmed myelodysplastic syndrome occurring in a patient on long term valproic acid therapy and further supports that valproic acid, a histone deacetylase inhibitor, may be leukemogenic.
 ...
PMID:Myelodysplastic syndrome associated with chronic valproic acid therapy: a case report and review of the literature. 1785 44

A diagnosis of myelodysplastic syndrome, refractory anemia subtype, was made in an elderly Indian woman on the basis of a refractory macrocytic anemia with normal vitamin B(12) and folate assays, normal thyroid function, essentially normal liver function and normal cytogenetic analysis. Disease evolution revealed that the diagnosis was erroneous.
 ...
PMID:Case 40. Misdiagnosis of refractory macrocytic anemia. 1902 Oct 64


<< Previous 1 2 3 4 5 6 7 Next >>