Cases reported "Myelodysplastic Syndromes"

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1/42. Pure red cell aplasia evolving through the hyperfibrotic myelodysplastic syndrome to the acute myeloid leukemia: some pathogenetic aspects.

    The authors report a 58-year-old female who originally presented with acquired pure red cell aplasia (PRCA). At diagnosis, the karyotype was normal, the serum erythropoietin level was highly elevated and no T-cell mediated inhibition of erythropoiesis was demonstrated in coculture studies. Conventional immunosuppressive therapy proved ineffective. A year later a diagnosis of hyperfibrotic myelodysplastic syndrome was assessed. The sequential bone marrow examinations in the course of the three years showed a progressive increase in bone marrow fibrosis, erythroid hyperplasia and dysmegakaryocytopoiesis, terminating in the acute myeloid leukemia. This sequence of the events included the appearance of del(5)(q13q33), four years after setting a diagnosis of PRCA. The authors suggest that the absence of both cytogenetic abnormality and the signs of dyshematopoiesis at the diagnosis of PRCA does not exclude ultimately a "clonal" category of the disease. Thus, repeated hematological and cytogenetical reevaluations are recommended.
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2/42. Vitamin K2 induces apoptosis of a novel cell line established from a patient with myelodysplastic syndrome in blastic transformation.

    We have previously reported that vitamin K2 (VK2) has a potent apoptosis inducing activity toward various types of primary cultured leukemia cells including acute myelogenous leukemia arising from myelodysplastic syndromes (MDS). We established a novel cell line, designated MDS-KZ, from a patient with MDS in blastic transformation, and further investigated the effects of VK2 using this novel cell line. MDS-KZ shows complex chromosomal anomaly including -4, 5q-, -7, 13q , 20q-, consistent with that seen in the original patient. culture of MDS-KZ cells in RPMI1640 medium containing 10% FBS lead to steady but very slow proliferation with a doubling time of 14 days. However, the cellular growth rate was significantly accelerated in the presence of various growth factors such as granulocyte colony-stimulating factor, stem cell factor, granulocyte-macrophage colony-stimulating factor, interleukin-3, and thrombopoietin. Most of the cultured cells show the morphological features of myeloblasts. They are positive for CD7, CD33, CD34, CD45, CD117, and HLA-DR. However, about 10% of the cells are more mature metamyelocytes and neutrophils with various dysplastic characteristics such as pseudo-Pelger nuclear anomaly and hypersegmentation, suggesting a potential for differentiation in this cell line. As previously reported for cultured primary leukemia cells, exposure to VK2, but not to VK1, resulted in induction of apoptosis of MDS-KZ cells in a dose-dependent manner (IC50: 5 microM). In addition, VK2 treatment induced down-regulation of BCL-2 and up-regulation of BAX protein expression with concomitant activation of caspase-3 (CPP32). A tetrapeptide functioning as antagonist of caspase-3, Ac-DEVD-H, suppressed the VK2-induced inhibition of cell growth, suggesting that caspase-3 is, at least in part, involved in VK2-induced apoptosis. These observations suggest that the MDS-KZ cell line can serve as a model for the study of the molecular mechanisms of VK2-induced apoptosis.
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3/42. Myelodysplastic syndrome with atypical eosinophilia in association with ring chromosome 7. A case report.

    The presence of morphologically abnormal eosinophils in the bone marrow and/or peripheral blood has been rarely reported as a prominent feature in myelodysplastic syndromes (MDS). Specific chromosomal aberrations have been observed in such cases. We report a case of a 76-year-old man who presented with chronic, transfusion-dependent anemia. Peripheral blood smear analysis revealed anisocytes, mild leukopenia, and occasional hypersegmented eosinophils. A subsequent bone marrow biopsy and aspiration disclosed hypercellularity, and morphologic abnormalities within the megakaryocyte, erythroid, and myeloid series. The myeloid population was predominantly comprised of eosinophils with varying degrees of dyspoiesis. The constellation of hematologic findings were without a precise categorization according to the FAB classification of myelodysplastic syndromes. Subsequent cytogenetic techniques demonstrated a ring chromosome 7 in all 20 metaphases analyzed in cultured bone marrow cells. Eighty-five-percent of the analyzed cells showed a ring chromosome composed of both the long and short arms: r(7)(p22q36). In the remaining metaphases, the ring was composed of only the short arm: r(7)(p22q10). To our knowledge, these uncommon cytogenetic abnormalities have not been previously reported in association with MDS with morphologically atypical bone marrow or peripheral eosinophilia.
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4/42. A heterozygous frameshift mutation in the fanconi anemia C gene in familial T-ALL and secondary malignancy.

    BACKGROUND: patients with fanconi anemia (FANC) have a well documented increased risk to develop malignancies, especially Acute Myeloid leukemia (AML) and Myelodysplastic Syndrome (MDS). The risk for heterozygous individuals is not clear, epidemiological data are inconsistent. If the risk for heterozygous individuals to develop malignancies was increased, they should be found in groups of patients with AML or MDS at higher proportion than in the normal population. We are currently screening a pediatric population with hematologic malignancies for mutations in the FANCA, FANCC and FANCG gene, and report here on siblings carrying a heterozygous frameshift mutation in the FANCC Gene. patients AND methods: Using PCR based single strand conformational analysis we screened the dna from pediatric patients suffering from 1 degree or 2 degrees MDS, CMML/JMML or AML for mutations in the FANCA (43 exons), FANCC (14 exons) and FANCG (14 exons) gene, and included one patient with refractory T-ALL, being the brother of a patient with T-ALL and MDS transforming into AML. Aberrant PCR products were directly sequenced. Flowcytometric measurement of mitogen-sensitivity and G2-phase arrest is used to evaluate cultured stimulated lymphocytes from individuals carrying FANC-mutations. RESULTS: A novel heterozygous frame-shift mutation, 377-378delGA in the FANCC gene was found in 2 siblings, both suffering from T-ALL with subsequent MDS transforming to AML in one of them. No other mutation was found by direct sequencing of the complete FANCC gene. Both patients died under therapy. The parents (first degree cousins) and one healthy brother are also carriers. Their lymphocytes show a higher mutagen sensitivity than normal, but do not get blocked in g2 phase as being typical for fanconi anemia. CONCLUSION: As the mutation causes a premature Stopcodon within exon 4 of the FANCC gene it has to be regarded as a causal FANCC gene defect. The findings within this family support the hypothesis of an increased risk to develop malignancies in heterozygous carriers of FANC-mutations. A systematic screening of further patients is needed, and we are currently examining a larger cohort to get a better estimate of the true risk of heterozygosity.
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5/42. Chronic lymphocytic leukemia associated with myelodysplastic syndrome and/or chronic myeloid leukemia: evidence for independent clonal chromosomal evolution.

    We describe the cytogenetic findings of three cases with simultaneous or sequential development of a B-chronic lymphocytic leukemia (B-CLL) and either a myelodysplastic syndrome (MDS) in 2 cases or a chronic myeloid leukemia (CML) in one case. The coexistence of these two hematologic malignancies leads to questions about their cell of origin. Through analysis of the cytogenetic abnormalities, we studied the derivation of both malignancies. The cytogenetic analyses of these three patients were simultaneously studied from both peripheral blood and bone marrow. Furthermore unstimulated short-time (USSTC) and long-time (72-96 hours) stimulated cultures (LTSC) were systematically performed. In all cases, we have demonstrated the independent bi-clonal evolution. This is the first report ever described for patients with CLPD and MDS and/or MPD shown to arise from distinct chromosomal abnormalities.
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6/42. Allogeneic bone marrow transplantation-mediated transfer of specific immunity against toxocara canis associated with excessive IgE.

    A girl with myelodysplastic syndrome (RAEB-T) received HLA-identical bone marrow from her younger brother after myeloablative treatment with busulfan and cyclophosphamide. After bone marrow transplantation, fever, exanthema, pruritis, and a pulmonary infiltrate were treated symptomatically. Bacterial cultures remained negative. Leukocyte engraftment began on day 10, and all blood cell populations proved to be of donor origin on FISH analysis. Increasing IgE levels (21 000 U/ml) on day 14 after BMT, positive RAST, specific IgG-antibodies, and missing Toxocara (T.) canis antigens in the recipient indicated donor-derived seroconversion. Before BMT, the recipient had been negative for T. canis in routine parasitological screening, and the donor proved to be positive for T. canis antibody by ELISA. This report suggests that the transfer of IgE immunity in the absence of detectable antigens may be responsible for IgE-mediated symptoms consistent with toxocara infection and confirms the need for parasite screening in donor medical examinations.
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7/42. trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases.

    The trisomy 8 found in malignancies may derive from a constitutional trisomy 8 mosaicism (CT8M), and in these cases the trisomy itself may be regarded as the first mutation in a multistep carcinogenetic process. To assess the frequency of CT8M in hematological dysplastic and neoplastic disorders with trisomy 8, an informative sample of 14 patients was collected. The data ascertained included chromosome analyses of fibroblast cultures and of PHA-stimulated blood cultures in patients with normal blood differential count, as well as possible CT8M clinical signs. One patient showed trisomy 8 in all cell types analyzed and undoubtedly has a CT8M; a second patient consistently showed trisomy 8 in PHA-stimulated blood cultures when no immature myeloid cells were present in blood and should be considered as having CT8M; a third patient, with philadelphia-positive chronic myelocytic leukemia, was more difficult to interpret, but the possibility that she had CT8M is likely. A few clinical signs of CT8M were also present in these three patients. Our data indicate that the frequency of CT8M in hematological dysplastic and neoplastic disorders with trisomy 8 is approximately 15-20%.
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8/42. Primary cutaneous zygomycosis due to mucor circinelloides.

    A 62-year-old woman with myelodysplastic syndrome presented with a 4-week history of a large indurated ulcer with a black eschar on the forearm following trauma. On biopsy a diagnosis of zygomycosis was made as broad, sparsely septate, thin-walled hyphae were seen in the deep dermis and subcutaneous fat. The zygomycete fungus mucor circinelloides was cultured from tissue. Further investigation confirmed that the infection was localized to the skin. The 6 x 4 cm lesion was excised and the defect closed with a neurovascular island flap. No other treatment was undertaken. The patient died 6 months later from her haematological disease without recurrence of the fungal infection.
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9/42. Clinical and experimental study of two cases of myelodysplastic syndrome with t(3; 5) (q25; q34) translocation.

    OBJECTIVE: To report two myelodysplatic syndromes (MDS) patients with t(3; 5) (q25; q34). methods: Chromosome specimens were prepared by short-term culture of bone marrow cells. karyotype analysis was performed by R banding technique, chromosome painting (fluorescence in situ hybridization, FISH) by using whole chromosome 3 and 5 probes in case 1. RESULTS: The clinical and hematological findings were compatible with diagnosis of MDS. karyotype analysis showed that both patients had identical t(3; 5) (q25; q34) translocation. A reciprocal translocation between chromosomes 3q and 5q was proved by FISH in one patient. CONCLUSIONS: t(3; 5) translocation is a rare chromosome abnormality specifically associated with MDS and frequently displays trilineage dysplasia. chromosome painting technique is a reliable tool for detecting this translocation.
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10/42. Clinical, cytogenetic and dual-color FISH studies on five cases of myelodysplastic syndrome or acute myeloid leukemia patients with 1;7 translocation.

    OBJECTIVE: To study the clinical and cytogenetic characteristics of four patients with myelodysplastic syndrome (MDS) and one with acute myeloid leukemia experiencing t (1;7). methods: Five patients seen in our hospital from 1992 to 2001 were diagnosed as MDS and acute myelocytic leukemia (AML) according to the French-American-British (FAB) criteria. chromosomes were prepared using the direct method as well as 24-hour unstimulated cultures of fresh heparinized bone marrow for each subject, while R-banding was used to analyze karyotypes. Dual-color fluorescence in situ hybridization (FISH) using SpectrumRed and SpectrumGreen directly labeled chromosome 1-specific alpha-satellite dna probe (red) and chromosome 7- specific alpha-satellite dna probe (green) was performed for three cases. RESULTS: Of the five patients, three had 1;7 translocation due to a long history of exposure to benzene. In three cases, dual-color FISH resulted in three red signals and two green ones, in which one red signal adjoining one green signal in 27.6%, 84% and 18.5% metaphases, respectively. CONCLUSIONS: Exposure to benzene may be the cause for Chinese MDS and AML patients with t (1;7) translocation. The result of dual-color FISH convincingly confirmed that the centromere of the derivative chromosome 7p/1q resulting from 1;7 translocation was made up of centromeres from both chromosomes 1 and 7.
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