1/40. Spontaneous remission of anemia associated with a myelodysplastic syndrome with disease evolution into a myeloproliferative state.A red cell transfusion-dependent patient with a myelodysplastic syndrome had progression into a myeloproliferative state with thrombocytosis. At the same time, the patient became transfusion independent, and a subsequent bone marrow examination revealed a previously undetected loss of chromosome 7. The patient remains well with control of thrombocytosis by anagrelide therapy.- - - - - - - - - - ranking = 1keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
2/40. A group of previously not recognized cytogenetic abnormalities in myeloid hematological malignancies.We have identified a group of previously not reported chromosome abnormalities related to myeloid hematological malignancies. Cases 1 and 2 were observed to have an additional i(4)(p10) as the sole anomaly with similar clinical features of myeloid disorders; that is, acute nonlymphocytic leukemia (ANLL-M2) and myelodysplastic syndrome (MDS)-refractory anemia with an excess of blasts in transformation, respectively. fluorescence in situ hybridization studies with the use of a 4p-specific microdissection probe further confirmed the presence of an i(4)(p10) in these patients. Case 3 was diagnosed with ANLL-M1 and had an additional i(8)(p10) as the only change, also confirmed by a whole-chromosome painting procedure. In cases 4-6, deletions of 18q at breakpoints q12, q23, and q21 were identified as the sole anomaly in a myeloproliferative disorder (MPD), MPD, and MDS, respectively. X-autosome translocations other than t(X;10)(p11;p11) and t(X;11)(q13;q23) have not been reported as recurrent or primary changes in hematological disorders. In the present study, a t(X;9)(q26;q22) and t(X;5)(q13;q33) as the sole anomaly were found in cases 7 and 8, respectively. Both cases had the same diagnosis of MDS. Considering that trisomies 4 ( 4) and 8 ( 8) are common anomalies in MDS and ANLL, our findings strongly indicate that amplification of genes on 4p and 8p, but not on 4q and 8q, may play a crucial role in the pathogenesis of MDS and ANLL. In addition, genes on 18q12-23 and on Xq13-26 may be involved in the pathogenesis of myeloid disorders.- - - - - - - - - - ranking = 0.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
3/40. thrombocytosis with sideroblastic erythropoiesis: a mixed myeloproliferative myelodysplastic syndrome.Some patients with haematological neoplasms have features which overlap between a myelodysplastic syndrome and a myeloproliferative disorder. Two such patients are reported, both having sideroblastic erythropoiesis and thrombocytosis and one sequentially developing features of atypical chronic myeloid leukaemia, idiopathic myelofibrosis and acute megakaryoblastic leukaemia. The prevalence of thrombocytosis among cases of refractory anaemia with ring sideroblasts may be as high as 15-20% and has implications for choice of therapy.- - - - - - - - - - ranking = 1keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
4/40. Coexisting myelodysplasia and myeloproliferative features in a single clone containing 5q-, Ph and i(17q).A case with myelodysplasia in which a single clone contained both 5q- and Ph chromosomes at diagnosis is presented. The patient subsequently developed leukocytosis and at that time was found to have acquired an additional chromosomal abnormality, i(17)(q10). This case illustrates the role of three different genetic changes that impart different clinical characteristics, i.e. myelodysplastic as well as myeloproliferative changes, as part of a multistep leukemogenic process.- - - - - - - - - - ranking = 0.093809324398725keywords = myelodysplastic (Clic here for more details about this article) |
5/40. 5q- syndrome presenting chronic myeloproliferative disorders-like manifestation: a case report.A 28-year-old Japanese woman with suspected essential thrombocythemia (ET) had marked thrombocytosis, mild leukocytosis with normal neutrophil alkaline phosphatase activity, and no anemia. She was monitored without being given any medication. Eleven years later, complete blood counts showed no remarkable changes but some non-lobulated mononuclear megakaryocytes were found in the bone marrow. cytogenetic analysis revealed deletion of the long arm of chromosome 5 (5q-). Subsequently, hemoglobin and platelet counts decreased gradually, splenomegaly appeared and progressed, after which myelofibrosis developed. Acute leukemia developed 16 years after the first documentation of thrombocytosis. 5q- syndrome is known to be a myelodysplastic syndrome (MDS) with unique clinical features and cases with this syndrome presenting with thrombocytosis of more than 1,000 x 10(9)/L but without anemia are rare. Furthermore, it is noteworthy that in this patient transition to acute leukemia occurred following development of myelofibrosis and marked splenomegaly, which are generally observed in blastic crises resulting from chronic myeloproliferative disorders (CMPD). The patient showed features indicative of CMPD rather than of MDS in spite of presenting with 5q- chromosomal abnormality. This case supports the concept of "mixed myelodysplastic and myeloproliferative syndromes" and suggests the possibility of the appearance of CMPD-like manifestations in 5q- syndrome.- - - - - - - - - - ranking = 0.29380932439872keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
6/40. Derivative (1;18)(q10;q10): a recurrent and novel unbalanced translocation involving 1q in myeloid disorders.We report two cases of hematological malignancies, comprising a case of myelodysplastic syndrome (MDS) that rapidly evolved into acute myeloid leukemia, and a case of myeloproliferative disorder (MPD), in which der(1;18)(q10;q10) was found as the sole acquired karyotypic abnormality. This observation indicates that the unbalanced translocation is a recurrent aberration in myeloid disorders. To the best of our knowledge, centromeric fusion between long arms of chromosomes 1 and 18, leading to a normal chromosome 18 substituted with a der(1;18) chromosome, is novel and has not been described in cancer. Mechanistically, either trisomy 1q or monosomy 18p that results from the translocation may potentially contribute to leukemogenesis. Finally, chromosomes with large constitutive heterochromatin bands such as chromosome 1 may be at risk of centromeric instability and be predisposed to centromeric fusion with other chromosomes.- - - - - - - - - - ranking = 0.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
7/40. Pure red cell aplasia developing into myeloproliferation with myelodysplasia and subsequent leukemia after cyclosporin A therapy.We describe a very rare case of a patient who presented with red cell aplasia that later developed into myeloproliferation with myelodysplasia and eventually leukemia. A 63-year-old man presented with anemia and reticulocytopenia in May 1997. A bone marrow examination revealed erythroid aplasia with normal production of myeloid cells and megakaryocytes with a normal karyotype. After the diagnosis of pure red cell aplasia was made, the patient was treated with prednisolone and then with cyclosporin A (CyA). Two weeks after the initiation of CyA treatment, the peripheral reticulocyte count began to increase with a regrowth of erythroid cells in the bone marrow. Meanwhile, the peripheral white blood cell and platelet counts also increased to more than 10,000/microL and 1,000,000/microL, respectively. Examination of a bone marrow aspirate in December 1997 revealed myelodysplastic changes with trisomy 8. Despite the discontinuation of CyA and the administration of 1-beta-D-arabinofuranosylcytosine stearyl monophosphate, leukemia developed in August 1998. In September 1998, the patient died of sepsis during a neutropenic period that followed remission-induction therapy. In the mechanism of pathogenesis, CyA may induce upon pure red cell aplasia a secondary myeloproliferative disorder with myelodysplasia and leukemia. An alternative possibility is that CyA reduces autoimmune-mediated suppression of the underlying stem cell disorder and that the result of this reduction is the manifestation of myeloproliferation and leukemia.- - - - - - - - - - ranking = 0.093809324398725keywords = myelodysplastic (Clic here for more details about this article) |
8/40. splenectomy in patients with mixed myelodysplastic/myeloproliferative disease.According to the classification of the world health organization, the designation myelodysplastic/myeloproliferative disorder, unclassifiable may be applied to cases that have clinical, laboratory, and morphologic features that support a diagnosis of a myelodysplastic syndrome (MDS) as well as a myeloproliferative disorder (MPD), but that do not meet the criteria for any of the other entities included in the MDS/MPD category [3]. In this paper we report on two Caucasian patients with unclassifiable myelodysplastic syndromes with proliferative characteristics. Both patients were suffering from thrombocytopenia and splenomegaly and underwent splenectomy. The weight of the spleen specimens was more than 2000 g. Histopathology findings revealed a marked infiltration of the spleen with extramedullary hematopoiesis. After surgery, one patient showed a rapid increase of platelets in peripheral blood and developed severe thrombocytosis. In the other case, the patient was suffering from a decrease of platelets and died in hypovolemic shock caused by gastrointestinal bleeding. In summary, these two cases demonstrate the difficulties of prognosis and treatment in patients with mixed myelodysplastic/myeloproliferative disorders. Additionally, we indicate the potential positive outcome of splenectomy as ultima ratio in patients with these hematological features and severe thrombopenia.- - - - - - - - - - ranking = 0.96285594639235keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
9/40. Sideroblastic anaemia with reactive thrombocytosis versus myelodysplastic/myeloproliferative disease.The reported incidence of thrombocytosis among cases of refractory anaemia with ring sideroblasts (RARS) may be as high as 15%. We report four additional cases of this association, which appear to be hematologically heterogeneous. One patient clearly represents a case of RARS with reactive thrombocytosis. Two cases have features suggestive of the coincidental occurrence of essential thrombocythemia and RARS. The fourth case could be best classified as a subtype of myelodysplastic/myeloproliferative disease unclassifiable (MDS/MPD U). Only new biological or molecular markers will allow better differentiation between these disorders.- - - - - - - - - - ranking = 0.46904662199362keywords = myelodysplastic (Clic here for more details about this article) |
10/40. Mixed myelodysplastic syndrome and myeloproliferative disorder with bone marrow and pulmonary fibrosis: the role of megakaryocytes.The case of an 80-year-old woman displaying myelodysplastic syndrome evolving into a myeloproliferative disorder with myelofibrosis and pulmonary fibrosis, is reported. This case is characterized by an initial presentation of a myelodysplastic syndrome with normal karyotype and moderate fibrosis, its evolution towards a myeloproliferative disorder with myelofibrosis and the worsening of pulmonary fibrosis in parallel to the acceleration of the myeloproliferative disorder and myelofibrosis. These features and the high concentration of plasma platelet factor-4 suggest a role of megakaryocyte/platelet degranulation in the development of fibrosis.- - - - - - - - - - ranking = 1.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
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