1/20. 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 = 1keywords = myelodysplastic (Clic here for more details about this article) |
2/20. Coexistence of independent myelodysplastic and philadelphia chromosome positive clones in a patient treated with hydroxyurea.We report a patient with philadelphia chromosome positive (Ph ve) chronic myelogenous leukemia (CML), treated with hydroxyurea alone, who upon disease progression developed an additional Ph - ve clone containing chromosomal abnormalities typical of myelodysplastic syndrome (MDS). Retrospective analysis of a cryopreserved stem cell specimen from diagnosis confirmed that this second clone developed during the course of treatment. The development of a clone with additional cytogenetic abnormalities in CML has only been reported after leukemogenic treatment, stem cell transplantation or interferon. We report a case of secondary Ph - ve MDS/AML during blast crisis in a patient treated with hydroxyurea for CML.- - - - - - - - - - ranking = 7.3692984768846keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
3/20. Myelodysplastic syndrome in childhood: report of two cases with deletion of chromosome 4 and the philadelphia chromosome.We report two pediatric patients with unclassified myelodysplastic syndrome (MDS) by the French-American-British (FAB) group. Both cases had clinical and hematological peculiarities, which had not been described yet. The cytogenetic alterations were 4q deletion and the Philadelphia (Ph) chromosome which appeared at different moments of the disease. One patient showed the Ph chromosome at disease transformation and the other at diagnosis. The different breakpoints at 4q and the presence of Ph could be a marker of this form of MDS. The association of clinical and hematological findings suggests the possibility of a new group of pediatric MDS.- - - - - - - - - - ranking = 3.3692984768846keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
4/20. [Late appearance of philadelphia chromosome with the p190 BCR/ABL chimeric transcript in acute myelogenous leukemia progressing from myelodysplastic syndrome]We report a late appearance of the philadelphia chromosome (Ph) with the p190 BCR/ABL chimeric transcript in a 69-year-old patient with acute myelogenous leukemia (AML) that had evolved from myelodysplastic syndrome (MDS). In July 1997, the patient was found to have pancytopenia caused by refractory anemia with excess of blasts, which evolved into AML in 4 months. The leukemic cells were positive for CD13, CD14, CD33, and HLA-DR and had a normal karyotype. The patient achieved a complete remission after combination chemotherapy. However, his leukemia relapsed in November 1999, with the appearance of leukemic cells positive for CD7, CD13, CD34, and HLA-DR with a 46, XY, add (18) (p11) karyotype. The patient failed to achieve the second remission after several courses of intensive chemotherapy. When the number of blastic cells, showing the same surface phenotypes, in the peripheral blood increased drastically in April 2000, chromosomal analysis of leukemic cells revealed a 46, XY, t(9;22) (q34;q11), add(18)(p11) karyotype. The fusion of the BCR and ABL genes was confirmed by fluorescence in situ hybridization analysis, and the reverse transcription-polymerase chain reaction analysis further revealed the presence of the p190 BCR/ABL chimeric transcript. The appearance of the Ph chromosome in the course of MDS transforming to AML is very rare and may be correlated to the disease progression.- - - - - - - - - - ranking = 16.846492384423keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
5/20. Aplastic anaemia associated with a philadelphia chromosome and monosomy 7 during immunosuppressive therapy.We describe a patient who presented with aplastic anaemia associated with the Philadelphia (Ph1) chromosome during immunosuppressive therapy and who subsequently developed myelodysplastic syndrome (MDS) with monosomy 7. Initially the patient had hypocellular fatty marrow without leukaemic blasts or dysplastic features. Chromosome analysis showed 46, XY, t(9;22)(q34;q11) during immunosuppressive therapy, but no leukaemic transformation was detected. The patient showed gradual haematologic improvement and became transfusion independent. Thereafter, bone marrow dysplasia with monosomy 7 progressed following transfusion independence. These findings indicate that multiple cytogenetic evolutions occur in aplastic anaemia during immunosuppressive therapy, and that Ph1 chromosome may play a role in bone marrow suppression rather than development of leukaemia.- - - - - - - - - - ranking = 3.3692984768846keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
6/20. erythromelalgia in thrombocythemia of various myeloproliferative disorders.erythromelalgia is caused by platelet-mediated acral inflammation and arteriolar thrombosis in thrombocythemia in its primary form or associated with polycythemia vera. The prompt and lasting relief of burning pain by low-dose aspirin is a prerequisite for the diagnosis of thrombocythemic erythromelalgia. Here we extend observations on the occurrence of erythromelalgia in thrombocythemia associated with primary myelofibrosis, Philadelphia-chromosome positive micromegakaryocytic myelofibrosis, and myelodysplastic syndrome type II. It is concluded that erythromelalgia may occur in thrombocythemia of all variants of chronic myeloproliferative disease as well as myelodysplastic syndrome if platelet counts are sufficiently high.- - - - - - - - - - ranking = 6.7385969537692keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
7/20. Cytogenetic and molecular studies of the Philadelphia translocation in myelodysplastic syndromes. Report of two cases and review of the literature.We report two patients with a myelodysplastic syndrome and the Philadelphia (Ph) chromosome. The first patient was a 73-year-old man who was diagnosed as having a chronic myelomonocytic leukemia in combination with features suggestive of a myeloproliferative syndrome. Chromosomal analysis showed a normal karyotype in the majority of cells, mixed with metaphases containing a standard Ph translocation, t(9;22)(q34;q11), as well as a translocation between chromosome 4 and 6: t(4;6)(p15;p12). Southern blot analysis showed breakpoint cluster region rearrangement as observed in classic chronic myeloid leukemia. The second patient was a 63-year-old man with a myelodysplastic syndrome, type refractory anemia. Cytogenetic study of bone marrow cells at the time of diagnosis revealed a normal karyotype: 46,XY. The initial myelodysplastic syndrome evolved to a myeloproliferative phase with progressive leukocytosis and thrombocytosis. During the terminal phase the Ph chromosome was discovered in 100% of the examined cells. We discuss the correlation between MDS and myeloproliferative diseases, the de novo acquisition of the Ph chromosome during the course of a myelodysplastic syndrome, and review the literature.- - - - - - - - - - ranking = 26.954387815077keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
8/20. Acquisition of a Ph chromosome with minor BCR/ABL fusion in treatment-related myelodysplastic syndrome with chromosome 7 abnormalities in a patient treated for hodgkin disease.The patient reported in this study originally had hodgkin disease that was treated heavily with multiple courses of combined chemotherapy and radiotherapy. Secondary myelodysplastic syndrome (MDS) with a complex karyotype with monosomy 7, deletion 7q31, and double deletion 7q31 developed 8 years later. During the course of the disease, conventional cytogenetics and interphase FISH (I-FISH) analysis detected a Ph chromosome and BCR/ABL fusion with mBCR rearrangement. Using a multiparametric cell scanning system that enables combined analysis with probes specific for 7/7q- and BCR/ABL in a single cell, we were able to demonstrate the presence of the BCR/ABL fusion only in cells with monosomy of chromosome 7 and 7q31 deletion, but not in cells with a normal chromosome 7 or with a double deletion of 7q31. We propose two possible models that may explain the appearance of the BCR/ABL fusion in the pre-existing treatment-related MDS clones characterized by chromosome 7 rearrangements.- - - - - - - - - - ranking = 16.846492384423keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
9/20. A double philadelphia chromosome in myelodysplastic syndrome.We report here a case of myelodysplastic syndrome associated with chromosomal abnormalities including a double philadelphia chromosome (Ph).- - - - - - - - - - ranking = 16.846492384423keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
10/20. Cytogenetic and molecular studies of the Philadelphia translocation t(9;22) observed in a patient with myelodysplastic syndrome.We report here the case of a patient with refractory anemia with excess of blasts (RAEB) which evolved into RAEB in transformation. The standard Philadelphia (Ph) chromosome was found by cytogenetic study at diagnosis and during evolution. Southern blot analysis showed breakpoint cluster region (bcr) rearrangement as observed in chronic myelogenous leukemia (CML).- - - - - - - - - - ranking = 13.477193907538keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
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