1/83. Spontaneous remission in myelodysplastic syndrome.A 73-year-old man was admitted for investigation of pancytopenia. His physical examination was unremarkable and the bone marrow aspirate was compatible with myelodysplastic syndrome (RAEB). cytogenetic analysis of the bone marrow revealed a trisomy 21. The patient received transfusions of packed red cells, and his condition remained stable for the next 7 months. He was then admitted with a chest infection and was treated with broad-spectrum antibiotics with satisfactory response. During his hospitalization there was a gradual increase in his complete blood count values, which persisted, resulting in a normal peripheral blood after 3 months. A bone marrow aspirate performed at that time revealed normal findings with no karyotypic abnormalities, indicating a spontaneous remission. The patient remained stable for the next 6 months; then he recurred with 20% blasts in his bone marrow and reappearance of trisomy 21 in 42% of the metaphases examined. Several hematologic malignancies with spontaneous remissions have been described to date, but they have generally been short and recurrence is the rule, as in the case described. The role of endogenous cytokines in triggering these spontaneous remissions is under question, as the exact mechanism is unknown.- - - - - - - - - - ranking = 1keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
2/83. Myelodysplastic syndrome (MDS) associated with increased hemoglobin F and trisomy 8: presentation of a patient.A 7.5 year old boy with myelodysplastic syndrome (MDS) of CMML type associated with trisomy 8 and elevated hemoglobin F (Hb F) value is presented. Hematological evaluation of the patient revealed that the Hb was 10 g/dl, MCV 110 FL, platelets 58 X 10(9)/l, WBC 5.4 X 10(9)/l with 24% atypical monocytes. karyotype analysis revealed 47, XY, 8. Hb F value was 21% which was distributed heterogeneously among red cells. PCR amplified cDNA copies of circulating reticulocyte mRNA were used to measure the relative amounts of alpha-, beta-, and gamma- globin. There was marked increases in both alpha/beta mRNA ratio (20%) and gamma/(gamma beta) mRNA ratio (35%) in the patient compared to normal subjects. The study indicated that increased transcription of alpha and gamma genes are partly responsible for the elevation of Hb F in MDS.- - - - - - - - - - ranking = 0.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
3/83. trisomy of the long arm of chromosome 1 resulting in a dicentric derivative (6)t(1;6) chromosome in a child with myelodysplastic syndrome following treatment for a primitive neuroectodermal tumor.We report the clinical, hematologic, and cytogenetic findings for a child with secondary myelodysplastic syndrome (MDS) after treatment for a primitive neuroectodermal tumor. At the time of conversion to MDS, conventional cytogenetics revealed an unbalanced der(6)t(1;6) that resulted in trisomy of the long arm of chromosome 1 and partial monosomy and duplication of 6p. Using alpha satellite probes, fluorescence in situ hybridization of bone marrow cells showed that the rearranged chromosome contained the centromeres of both chromosomes 1 and 6, thus forming a dic(1;6) resulting in trisomy 1q. This report is the first to describe a case of childhood secondary myelodysplastic syndrome associated with a trisomy 1q involving chromosome 6.- - - - - - - - - - ranking = 1.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
4/83. 17q21-qter trisomy is an indicator of poor prognosis in acute myelogenous leukemia.A reciprocal translocation (9;11) is often found in acute myeloid leukemia (AML), mostly of the M5a type. We report a case of a child with AML, in whom t(9;11) was observed at diagnosis as the sole structural abnormality, together with trisomies 19 and 21. The diagnosis was AML evolving from a myelodysplastic syndrome (MDS), and the blast morphology was undifferentiated. Chemotherapy failed to induce morphological remission and the patient's condition soon worsened. A subclone appeared and expanded during the course of the disease, with an additional unbalanced translocation (1;17) leading to trisomy of the long arm of chromosome 17 (17q). The data available from the literature on acquired anomalies involving 17q and our observation led us to postulate a specific link between the gain of 17q and complete chemoresistance.- - - - - - - - - - ranking = 0.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
5/83. clonal evolution from trisomy into tetrasomy of chromosome 8 associated with the development of acute myeloid leukemia from myelodysplastic syndrome.tetrasomy 8, though rare, is usually associated with trisomy 8, a far more common chromosomal abnormality in acute myeloid leukemia (AML). Yet the clonal relationship between trisomy 8 and tetrasomy 8 in the cases with these chromosomal abnormalities has been unclear. Here, we report a case of a 17-year-old male, diagnosed as having a myelodysplastic syndrome (MDS). Chromosome analysis showed the presence of trisomy 8. Five years later, he developed overt AML exhibiting tetrasomy 8 only. After chemotherapy, the blast cells in the bone marrow decreased to 3.4%, and the karyotype showed trisomy 8 alone. fluorescence in situ hybridization using a probe specific for chromosome 8 showed that the percentages of cells exhibiting 2/ 3 /4 signals were 7.8/89.2/2.0 at the MDS stage, 20.5/36.1/41.0 when overt AML developed and 24.0/72.1/2.4 after chemotherapy. These results suggested that tetrasomy 8 is derived from the AML clone, possibly evolved from the MDS clone with trisomy 8. To our knowledge, this is the first detailed case report of clonal evolution from trisomy 8 into tetrasomy 8 associated with the development of AML from MDS.- - - - - - - - - - ranking = 1keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
6/83. trisomy 21 and isodicentric chromosome 21 in Kostmann syndrome following treatment with G-CSF.A child with Kostmann syndrome, or severe congenital neutropenia, developed myelodysplastic syndrome after 6 years of treatment with rhG-CSF. The bone marrow karyotype showed acquired trisomy 21, and in some cells pentasomy 21 due to two isodicentric chromosomes 21. This is the second report of a patient with Kostmann syndrome and acquired trisomy 21.- - - - - - - - - - ranking = 0.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
7/83. Intestinal Behcet's disease associated with myelodysplastic syndrome with chromosomal trisomy 8--a report of two cases and a review of the literature.Two cases of intestinal Behcet's disease, which developed in the state of myelodysplastic syndrome with trisomy 8, are presented. Both cases are included in the incomplete type of Behcet's disease, with recurrent aphthous stomatitis, skin lesions, genital ulcers or vascular involvement and punched-out ulcers in the cecum, without ocular involvement. The chromosomal analyses revealed chromosomal abnormalities, including trisomy 8, in both cases. Chromosomal trisomy 8 was shown in all 6 cases with the intestinal Behcet's disease associated with myelodysplastic syndrome reported previously, including our patients. Their histories indicated that myelodysplastic syndrome might have started before the development of intestinal Becet's disease. Theses findings suggested that chromosomal trisomy 8 might play an important role in the pathogenesis, at least in some groups, of intestinal Behcet's disease.- - - - - - - - - - ranking = 1.4keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
8/83. Acute myeloid leukemia with concomitant trisomies 4 and 10: a distinctive form of myeloid leukemia?The occurrence of trisomy 4 or trisomy 10 as the sole chromosomal abnormality in acute myeloid leukemia (AML) is very rare, the reported frequency being less than 1%. We describe two cases of AML-M2 with concomitant trisomy 4 and trisomy 10, a hitherto undescribed phenomenon. They showed two unusual features, including immunoreactivity for CD56 and a short-lived but rapidly progressive myelodysplastic phase preceding the appearance of frank leukemia. These findings raise the possibility that AML with concommitant trisomy 4 and trisomy 10 may constitute a distinctive subtype of AML.- - - - - - - - - - ranking = 0.058966823246218keywords = myelodysplastic (Clic here for more details about this article) |
9/83. trisomy 16 as the sole anomaly in hematological malignancies. Three new cases and a short review.We report on three cases, two with myelodysplastic syndrome (MDS) and one with acute lymphoblastic leukemia (ALL), displaying trisomy 16 as the sole cytogenetic anomaly. In none of these cases was a concomitant inv(16)(p13q22) detected by fluorescence in situ hybridization (FISH) or reverse transcription polymerase chain reaction (RT-PCR). Summarizing the literature, only six other cases cytogenetically characterized by an isolated trisomy 16 have been reported in hematological malignancies. These patients had either MDS, acute myeloblastic leukemia (AML), myelofibrosis, or ALL. All but one of these cases were aged less than 50.- - - - - - - - - - ranking = 0.2keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
10/83. trisomy 8 involved in myelodysplastic syndromes as a risk factor for intestinal ulcers and thrombosis--Behcet's syndrome.Only 12 myelodysplastic syndrome (MDS) cases with Behcet's syndrome have been previously reported and trisomy 8 was found to have accumulated in all these patients. Five of the cases had complications in the form of multiple intestinal ulcers, which is one of the symptoms of Behcet's syndrome. To investigate the relationship between trisomy 8 and multiple intestinal ulcers in MDS patients, we analyzed 46 MDS cases treated in our hospital over the last decade, and trisomy 8 was observed in eight of them. Three of these cases had complications of both multiple intestinal ulcers and thrombosis, and two cases showed episodes of thrombosis without intestinal ulcers. All these five cases featured trisomy 8, while the other 38 MDS patients without trisomy 8 had no episode of either intestinal ulcer or thrombosis. Two of the three cases suffering from multiple intestinal ulcers were treated with granulocyte-colony stimulating factor (G-CSF), which resulted in aggravation of the symptoms. Although the influence of G-CSF on such symptoms in MDS patients with trisomy 8 remains unclear, it seems advisable to exercise caution in the use of G-CSF when an MDS patient with trisomy 8 has intestinal ulcers or thrombosis.- - - - - - - - - - ranking = 1keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
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