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)

Three structural proteins of equine infectious anemia virus were purified, labeled with 125I, and utilized in radioimmunoassays with horse sera and antisera to heterologous retroviruses. Whereas radioimmunoassay titers for the major protein, p25, were 500- to 1,000-fold higher than titers in immunodiffusion, for clinical purposes these two procedures were equivalent. Antibodies to two low-molecular-weight proteins, p12 and p10, were also found in infected horses, but with a lower frequency and lower titers. As a rule, only sera positive for p25 also contained antibody to p12 and p10. Antisera to the major structural protein of other retroviruses did not precipitate equine infectious anemia virus p25. These sera include antibody to mammalian type C viruses, bovine leukemia virus, visna virus, mouse mammary tumor virus, squirrel monkey retrovirus, and Mason-Pfizer monkey virus.
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PMID:Specificity of response to viral proteins in horses infected with equine infectious anemia virus. 21 31

A 34-year-old man was found to have leukocytosis and thrombocytosis in 1983. In 1988, his leukocyte count was 10,400/microliter, Hb 16.5g and a platelet was 73 x 10(4)/microliter. A bone marrow examination showed megakaryocyte hyperplasia. Essential thrombocythemia (ET) was diagnosed but no treatment was given. In February 1993, anemia and hepatosplenomegaly developed and cytogenetic study of the peripheral blood demonstrated t(1;7) (q10;p10). Myelofibrosis was diagnosed as by bone marrow biopsy. The patient was treated with blood transfusion, oxymetholone and prednisolone, but without effect. In 1995, acute myeloid leukemia developed, and he died in December 1995 due to septicemia. We report here a case of the ET developed myelofibrosis with t(1;7) (q10;p10) anomaly and acute leukemia.
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PMID:[Essential thrombocythemia in transformation to acute leukemia (FAB-M0) as a natural history from myelofibrosis with t(1;7)]. 919 91

Acquired elliptocytosis is a red blood cell abnormality occasionally associated with myelodysplastic syndrome (MDS). A Japanese male with MDS who presented with elliptocytosis had mild anemia and hypercellular bone marrow with three lineage-dysplasia. He was diagnosed with refractory anemia of MDS. Cytogenetic analysis of bone marrow cells showed 47,XY,+1,der(1;5)(q10;p10),t(1;5) (p10;q10),del(20)(q11) in 70% of the analyzed cells. Analysis of red blood cell membrane proteins by sodium dodecyl sulphate-polyacrylamide gel electrophoresis showed normal electrophoretic patterns with no quantitative abnormalities of each protein. Del(20q) and/or t(1;5)(p10;q10) might be associated with elliptocytosis in this patient.
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PMID:Elliptocytosis in myelodysplastic syndrome associated with translocation (1;5)(p10;q10) and deletion of 20q. 997 47

A rare case of Behcet's disease associated with myelodysplastic syndrome (MDS) is described. A 50-year-old Korean female suffering recurrent oral ulcer, genital ulcer, fatigue, arthralgia in both knees and fever was diagnosed as Behcet's disease. The findings of bone marrow aspirates were consistent with refractory anemia, a subtype of myelodysplastic syndrome. Chromosomal analysis of bone marrow cells revealed 46,XX,-8,-20,+der(8)t(8;20)(p23;p10),+der(8) t(8;20)(p23;q10)[30]. The chromosomal changes found in this patient were different from those of previous reports, which mostly revealed trisomy 8. If anemia, low reticulocyte count and dyspoietic cells are sustained in Behcet's disease, physicians should be alert to the possibility of MDS with aberration in chromosome 8 and perform a bone marrow study for the proper diagnosis and treatment of the disease. We presented a case of Behcet's disease associated with MDS, which is the first Korean case.
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PMID:Behcet's disease associated with myelodysplastic syndrome: a case report. 1064 51

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.
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PMID:Concurrent pernicious anemia and myelodysplastic syndrome. 1140 Oct 93

Fluorescence in situ hybridization and comparative genomic hybridization characterized 6p rearrangements in eight primary and in 10 secondary myeloid disorders (including one patient with Fanconi anemia) and found different molecular lesions in each group. In primary disorders, 6p abnormalities, isolated in six patients, were highly heterogeneous with different breakpoints along the 6p arm. Reciprocal translocations were found in seven. In the 10 patients with secondary acute myeloid leukemia/myelodysplastic syndrome (AML/MDS), the short arm of chromosome 6 was involved in unbalanced translocations in 7. The other three patients showed full or partial trisomy of the 6p arm, that is, i(6)(p10) (one patient) and dup(6)(p) (two patients). In 5/7 patients with unbalanced translocations, DNA sequences were overrepresented at band 6p21 as either cryptic duplications (three patients) or cryptic low-copy gains (two patients). In the eight patients with cytogenetic or cryptic 6p gains, we identified a common overrepresented region extending for 5-6 megabases from the TNF gene to the ETV-7 gene. 6p abnormalities were isolated karyotype changes in four patients. Consequently, in secondary AML/MDS, we hypothesize that 6p gains are major pathogenetic events arising from acquired and/or congenital genomic instability.
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PMID:Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute myeloid leukemia. 1661 24

We describe here two cases of myelodysplastic syndrome (MDS) with a novel unbalanced translocation der(5;19)(p10;q10). Both patients had complex karyotypes including der(5;19) accompanied by an extra chromosome 19, resulting in deletion of the whole long arm of chromosome 5. Furthermore, these patients presented several common clinical and hematological characteristics: MDS subtypes as refractory anemia with excess of blasts (RAEB)-1 or RAEB-2, marked anemia and thrombocytopenia without neutropenia, leukoerythroblastosis, trilineage dysplasia with prominent dyserythropoiesis, CD7 expression in blasts, and association with abnormalities of chromosomes 6, 17 and 18. These findings indicate that der(5;19)(p10;q10) may play a crucial role in the pathogenesis of high-risk MDS as a rare but recurrent translocation.
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PMID:Unbalanced whole-arm translocation der(5;19)(p10;q10) is a novel and recurrent cytogenetic aberration in myelodysplastic syndrome. 1882 9

A 68-year-old woman with essential thrombocythemia had been treated with hydroxycarbamide and aspirin for 13 years. She exhibited the rapid progression of anemia, and a bone marrow examination showed dysplasia of the erythroid cells, myeloid cells, and megakaryocytes. Karyotype analysis indicated complex abnormalities including der (5;21)(p10;q10). She was diagnosed with myelodysplastic syndrome (MDS), refractory anemia with excess blasts-1 (RAEB-1). Lenalidomide was started, but no improvement in anemia was recorded. Lenalidomide was discontinued due to eosinophilia, basophilia, and a skin rash. Azacitidine was administered. The patient became transfusion independent, and a complete cytogenetic response was achieved with three courses of azacitidine. However, disease progression to acute myeloid leukemia (AML) was observed after an additional two courses of azacitidine, which was resistant to induction chemotherapy. The patient died five months later from AML transformation. Azacitidine may be effective in MDS transformed from essential thrombocythemia, and also in lenalidomide-resistant MDS with the deletion of 5q.
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PMID:Effective azacitidine treatment for myelodysplastic syndrome transformed from essential thrombocythemia. 2372 86

Derivative (5;19)(p10;q10) [der(5;19)(p10;q10)] is a rare chromosomal abnormality in myelodysplastic syndrome (MDS), and is genetically similar to deletion 5q [del(5q)]. However, MDS with der(5;19)(p10;q10) and 5q- syndrome are generally characterized as distinct subtypes. Here, we report a case of a patient with 5q- syndrome-like features as the first manifestation of MDS with der(5; 19)(p10;q10). A 59-year-old woman was admitted to our hospital for anemia without leukopenia and thrombocytopenia. She had received chemotherapy comprising carboplatin and docetaxel for endometrial cancer eight years before. Bone marrow aspirate (BM) revealed low blast counts with trilineage dysplastic cells, and fluorescent in situ hybridization revealed the loss of colony-stimulating factor 1 receptor (CSF1R) signals at 5q33-34. Although the initial manifestation was 5q- syndrome, G-banded metaphase analysis and spectral karyotyping analysis revealed der(5;19)(p10;q10). Consequently, a diagnosis of therapy-related MDS (t-MDS) was made. She failed to respond to azacitidine and lenalidomide therapy. Consequently, transfusion-dependent anemia and thrombocytopenia developed with increasing myeloblasts. Cytarabine, aclarubicin, and granulocyte colony-stimulating factor therapy also failed, and unfortunately the patient died. Thus, MDS with der(5;19)(p10;q10) may represent a platinum agent-related t-MDS that is highly resistant to chemotherapy.
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PMID:5q- syndrome-like features as the first manifestation of myelodysplastic syndrome in a patient with an unbalanced whole-arm translocation der(5;19)(p10;q10). 2791 67

Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). Although recurrent chromosomal and genetic abnormalities are frequently observed in aCML, none are specific to this type of leukemia. The present study reported a case of aCML associated with i(X)(p10), a rare recurrent chromosomal abnormality of hematological malignancy. A 40-year-old female was referred to the Tokyo Medical and Dental University Hospital (Tokyo, Japan) due to slight leukocytosis and anemia. A bone marrow aspiration revealed 4% blasts and granulocytic hyperplasia with dysplasia. A G-banded cytogenetic analysis of the bone marrow cells revealed 46, X, isochromosome X(iX)(p10) in all metaphases. The percentage of the neutrophil precursors promyelocytes, myelocytes and metamyelocytes in the peripheral blood was >10% throughout the clinical course of the patient, which resulted in a diagnosis of atypical chronic myeloid leukemia. Treatment with hydroxycarbamide was not able to effectively alleviate leukocytosis, and the disease progressed with the appearance of an additional cytogenetic abnormality, t(10;17)(p13;q21). Subsequently, the patient underwent allogeneic stem cell transplantation from a sibling donor, and subsequent cytogenetic analysis revealed a normal karyotype with full donor chimerism. The isodicentric X(idicX)(q13) mutation is a similar abnormality to i(X)(p10) and may result in a loss of the X-inactive specific transcript gene located at Xq13.2, the deletion of which has been previously reported to result in the development of MDS/MPN in mice. In addition, i(X)(p10) was identified as the sole chromosomal abnormality at the diagnosis of aCML in the case of the present study, which is similar to patients from previous studies of other hematological malignancies and supports the hypothesis that i(X)(p10) may have served a primary role in the leukemogenesis of aCML.
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PMID:Atypical chronic myeloid leukemia with isochromosome (X)(p10): A case report. 2892 37


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