1/35. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.Two siblings manifested a neuro-haematologic syndrome characterised by low birth weight, failure to thrive, chronic persistent tongue ulceration, severe truncal ataxia and pancytopenia without either telangiectasia or chromosomal instability. One sibling died from sepsis and the cerebellum demonstrated reduced cellularity of the molecular and granular layers with relative preservation of purkinje cells and minimal gliosis. A surviving sibling has shown haematologic progression to a myelodysplastic disorder. There was no evidence of any chromosomal instability following exposure of fibroblasts and lymphocytes to irradiation. monosomy-7 was not present in the surviving sibling. We suspect that these two patients represent another example of the rare Hoyeraal-Hreidarsson syndrome and we are currently engaged in very close monitoring of the surviving sibling for evidence of any karyotypic abnormality.- - - - - - - - - - ranking = 1keywords = myelodysplastic (Clic here for more details about this article) |
2/35. Successful bone marrow transplantation in an adult patient with reactive hemophagocytic syndrome associated with myelodysplastic syndrome.We report an adult case of reactive hemophagocytic syndrome (RHS) associated with myelodysplastic syndrome (MDS) who received emergency bone marrow transplantation (BMT). Despite methylprednisolone pulse therapy, high-dose gamma-globulin, and chemotherapy containing etoposide, the pancytopenia progressed. After informed consent, the patient underwent syngeneic BMT using melphalan as the conditioning regimen. The patient has been well without relapse of RHS and MDS for more than 2 years after BMT. This result suggests that the above strategy, including BMT, should be considered for the treatment of adult RHS associated with hematological malignancy.- - - - - - - - - - ranking = 18.336163272529keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
3/35. Prolonged bone marrow failure with monosomy 7 after engraftment failure following bone marrow transplantation.A patient with acute myelogenous leukemia developed prolonged bone marrow failure along with the monosomy 7 chromosome abnormality. The patient had undergone bone marrow transplantation with CD34 selection following induction failure. However, she then suffered engraftment failure and long-term pancytopenia. Her white blood cell count gradually increased with supportive therapy including granulocyte colony-stimulating factor (G-CSF), and chromosomal analysis of bone marrow cells revealed an abnormal karyotype. Thirty months after the bone marrow transplantation we observed monosomy 7 together with the existing chromosomal abnormality in the patient's bone marrow cells. It has been reported that some patients with idiopathic and posthepatitis aplastic anemia develop clonal disorders such as myelodysplastic syndrome/acute myelogenous leukemia with monosomy 7. The findings in our case suggest that the appearance of monosomy 7 in patients with aplastic anemia may be caused by prolonged low-level hematopoiesis, with or without G-CSF stimulation.- - - - - - - - - - ranking = 3.6672326545059keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
4/35. Myelodysplasia-like syndrome and end-stage liver disease: report of 2 cases.We report 2 cases of myelodysplastic syndrome associated with cirrhosis caused by primary biliary cirrhosis and alpha1-antitrypsin deficiency. The etiology of myelodysplasia and its implication in liver transplantation is discussed.- - - - - - - - - - ranking = 3.6672326545059keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
5/35. Runner's anemia.Macrocytic anemia occurring in patients with fatigue suggests numerous diagnoses, ranging from nutritional deficiencies to a myelodysplastic syndrome. A careful history-taking is critically important for recognition of runner's anemia, which is due to plasma volume expansion, with hemolysis from the pounding of feet on pavement, and hemoglobinuria. Gastrointestinal blood loss may also contribute to anemia in long-distance runners. Early recognition of runner's anemia in patients with a complex presentation of anemia is important in circumventing many diagnostic tests. Runner's anemia should be considered when, amidst a constellation of signs and symptoms, mild anemia is well tolerated by an avid runner.- - - - - - - - - - ranking = 3.6672326545059keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
6/35. Myelodysplastic syndrome progresses rapidly into erythroleukemia associated with synchronous double cancers of the stomach and the papilla of Vater.patients with myelodysplastic syndrome (MDS) show a relatively high incidence of developing cancers. However, it is extremely rare that synchronous double cancers develop in an MDS patient. We report a case of MDS that progressed rapidly into erythroleukemia (M6 by French-American-British classification) complicated by gastric cancer and carcinoma of the papilla of Vater. A 66-year-old man was admitted because of pancytopenia with peripheral blasts. A diagnosis of MDS (with refractory anemia with excess of blasts in transformation [RAEB-T]) was made by bone marrow examination. Chromosome analysis revealed 46,XY. An early gastric cancer was also diagnosed by endoscopic examination. The peripheral blasts gradually proliferated and the disease progressed to M6. A chromosome abnormality 46,XY,del(1)(q42) was detected at the leukemic transformation. A CAG (low-dose cytarabine and aclarubicin in combination with granulocyte colony-stimulating factor) regimen was started as a remission-induction therapy. However, obstructive jaundice developed and a marked dilatation of bile ducts was observed by abdominal computed tomography (CT). A carcinoma of the papilla of Vater was detected by endoscopy. As remission was achieved and the pancytopenia improved, the patient subsequently underwent a surgical jejuno-choledochostomy to manage the jaundice. However, the leukemia relapsed thereafter and additional chromosome abnormalities including der(5)t(5;10)(p15:q11) were observed.- - - - - - - - - - ranking = 3.6672326545059keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
7/35. hiv and refractory anemia with excess blasts (RAEB).We report the case of a 36 year old man who was hospitalized with pneumonia and pancytopenia with refractory anemia with excess blasts confirmed by bone marrow biopsy. He was subsequently found to have advanced hiv infection. Both the hiv infection and the myelodysplastic syndrome responded to highly active anti-retroviral therapy (HAART) with sustained normalization of his hematologic abnormalities within 79 days.- - - - - - - - - - ranking = 3.6672326545059keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
8/35. The role of mitochondrial-mediated apoptosis in a myelodysplastic syndrome secondary to congenital deletion of the short arm of chromosome 4.OBJECTIVE: myelodysplastic syndromes (MDS) are characterized by peripheral cytopenia and ineffective hematopoiesis. In adult-onset MDS and in certain inherited marrow failure syndromes, apoptosis is increased and is mediated mainly through activation of the Fas pathway. It is unclear whether the various myelodysplastic disorders share the same apoptosis pathways. I investigated apoptosis pathways in a patient with refractory cytopenia with ring sideroblasts associated with congenital 4p deletion to determine the mechanism for bone marrow failure. methods: Marrow cells and lymphoblast cell lines generated from peripheral blood were analyzed for apoptosis and protein expression by flow cytometry, Western blot, and confocal microscopy, either directly or after gamma irradiation (15 G). Cell viability after treatment with inhibitors of specific apoptosis pathways was also determined. RESULTS: Compared to controls, the patient's marrow and lymphoblastoid cells showed significantly higher apoptosis rates and activation of caspase-3. Investigation of the mitochondrial apoptosis pathway showed a consistent pro-apoptosis profile, namely, upregulation of Bax, Bax-alpha, cytochrome c, and Apaf1, and low bcl-2. Differences between the patient's and the normal cells were further accentuated after irradiation; p53 expression was strikingly higher in the patient only after irradiation. In contrast, Fas and FADD expression on the patient's and the control's cells were comparable. Addition of caspase 3 or caspase 9 inhibitors markedly increased patient cell viablity, but blocking anti-Fas antibody did not. CONCLUSION: The ineffective hematopoiesis in this case is explained by increased apoptosis and is linked to hyperactivation of the mitochondrial cell death machinery and not to the Fas pathway, which might be secondary to an intramitochondrial defect. This information is crucial because the development of anti-apoptotic agents for the treatment of MDS may not be universally efficacious and should target the specific derangement.- - - - - - - - - - ranking = 15.668930618024keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
9/35. trisomy 15 as the sole abnormality in myelodysplastic syndromes: case report and review of the literature.trisomy 15 as the sole autosomal anomaly is uncommon in hematological malignancies but could be preferentially associated with myelodysplasia. We report a 61-year-old man who developed pancytopenia following two courses of chemotherapy for chronic lymphoid leukemia. Cytogenetic studies at diagnosis of pancytopenia with R banding showed a 47,XY, 15[3]/45,X[3]/46,XY[14] karyotype. A review of the 53 cases of myelodysplastic syndromes (MDS) and myeloid related disorders associated with trisomy 15 reported in the literature showed that 18 of the 31 men also lost the y chromosome in the trisomic 15 cell line. Their mean age was significantly higher than that of males who had not lost the y chromosome (p < 0.05). The main feature of the patient reported here is the presence of two abnormal cell lines, one having lost the y chromosome, the other having gained a chromosome 15. Therefore, the two events occurred independently, the loss of the y chromosome being possibly due to aging and the trisomy 15 to the hematologic disorder.- - - - - - - - - - ranking = 18.336163272529keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
10/35. Successful aortic valve replacement in severe pancytopenia related to myelodysplastic syndrome.We report a 60-year-old man with myelodysplastic syndrome (MDS) whose aortic valve was replaced successfully. He suffered from dyspnea on exertion and was confirmed by echocardiography and cardiac catheterization to have severe aortic stenosis. A peripheral blood examination showed pancytopenia and a bone marrow examination showed MDS with a subtype of refractory anemia with excess blasts. His preoperative neutrophil count was 468/mm3, hemoglobin 9.8 g/dl, and platelet count 27,000/mm3. We conducted aortic valve replacement (AVR) using a bioprosthesis in July 2001. Pre- and postoperatively, we injected granulocyte colony-stimulating factor to keep the neutrophil count at 2,000/mm3 or more. We also transfused platelet concentrate and infused tranexamic acid. Despite potential risks of infection and bleeding, the AVR involved no significant complications. Careful preoperative planning thus plays an important role in managing such cases.- - - - - - - - - - ranking = 18.336163272529keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
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