1/157. 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) |
2/157. Importance of basophilia in haematopoietic disorders.To the significance of basophilia in haematopoietic disorders, six draw attention to cases have been analyzed. Associated diseases included acute myelogenous leukaemia (AML-M2, M3, M4, and M6), refractory anaemia with excess of blasts (RAEB) and RAEB in transformation (RAEB-T). Two AML cases (M2, M6) were preceeded by myelodysplastic syndromes (MDS). All patients showed greater than 3% basophilia in peripheral blood and bone marrow. basophils were identified successfully by metachromatic staining with toluidine blue in all cases. Three patients (M3, M4, RAEB) presented with lymphadenopathy, suggesting an association with extramedullary involvement. Neutrophil alkaline phosphatase (NAP) activity was significantly reduced in four patients with AML (M2, M3, M4) and RAEB-T. The clinical course was generally unfavourable characterized by short remission duration or disease progression except for the patient with RAEB. Haemorrhage was the main cause of death rather than infection. cytogenetic analysis revealed unique abnormalities involving chromosomes 3q21, 5q31, and 17q11 where the genes for some haematopoietic growth factors or their receptors are located, in addition to t(6;9) and t(15;17).- - - - - - - - - - ranking = 3.4079696372701keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
3/157. Acute myelogenous leukemia with a t(2;17;4)(p13;q21;p16) aberration: effective treatment with all-trans retinoic acid and granulocyte colony-stimulating factor.The efficacy of all-trans retinoic acid (ATRA) in patients with acute promyelocytic leukemia (APL) has been well documented. However, ATRA is not as effective against other types of acute myelogenous leukemia (AML) or myelodysplastic syndromes. We present a patient with AML (FAB: M2) associated with a t(2;17;4)(p13;q21;p16) chromosomal defect in which the 17q21 breakpoint was not within the retinoic acid receptor alpha locus which is typically rearranged in APL. This patient was successfully treated with ATRA and granulocyte colony-stimulating factor and improvement of hematological parameters lasted for 19 months without the use of cytotoxic agents.- - - - - - - - - - ranking = 3.4079696372701keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
4/157. Identification of multiple copies of a 20q-chromosome in a case of myelodysplastic syndrome: a FISH study.In myelodysplastic syndromes (MDS) karyotypic aberrations identify subgroups of patients with distinct clinical-morphological features and can be relevant in risk assessment of developing leukemia. Often conventional cytogenetic analysis is not sufficiently informative due to the presence of partially or completely unrecognizable chromosome markers. By chromosome microdissection (MD) and fluorescence in situ hybridization (FISH) we investigated the nature of a karyotypic marker occurring in multiple copies in one case of MDS arisen in a patient previously treated for breast cancer. Results showed dicentrics derived from telomeric fusion between interstitially deleted 20q-chromosomes. The abnormal karyotype resulted into polysomy for a deleted chromosome 20q.- - - - - - - - - - ranking = 17.039848186351keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
5/157. 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 = 3.4079696372701keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
6/157. Improved hematopoiesis using amifostine in secondary myelodysplasia.An 11-year-old boy with multiply relapsed lymphoblastic disease became transfusion dependent with myelodysplasia and chromosomal abnormalities after 5 years of aggressive therapy. At 5 years of age, he presented with transient idiopathic hypoplastic anemia and neutropenia that spontaneously resolved within a month. Three months later, he experienced lymphoblastic lymphoma in the left parotid region and subsequently experienced disease relapse in his testicles, bone marrow, and central nervous system during a 3-year period. He has received multiagent chemotherapy, autologous peripheral blood stem-cell transplantation, and testicular and whole neuraxis irradiation therapy. After craniospinal irradiation, he did not recover normal bone marrow function. His bone marrow was hypocellular, and he required platelet and erythrocyte transfusions and granulocyte colony-stimulating factor. Marrow cytogenetic studies revealed new multiple translocations. Within a month of the initiation of intravenous amifostine at 200 mg/m2/dose three times a week, his leukocyte count, neutrophil count, and hemoglobin level normalized. His platelet count also improved sufficiently to achieve transfusion independence. He has returned to school and engages in other normal activities for his age. amifostine may improve hematopoiesis in secondary myelodysplastic syndromes in children.- - - - - - - - - - ranking = 3.4079696372701keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
7/157. Behcet's disease associated with myelodysplastic syndrome: a case report.A rare case of Behcet's disease associated with myelodysplastic syndrome (MDS) is described. A 50-year-old Korean female suffering recurrent oral ulcer, genital ulcer, fatigue, arthralgia in both knees and fever was diagnosed as Behcet's disease. The findings of bone marrow aspirates were consistent with refractory anemia, a subtype of myelodysplastic syndrome. Chromosomal analysis of bone marrow cells revealed 46,XX,-8,-20, der(8)t(8;20)(p23;p10), der(8) t(8;20)(p23;q10)[30]. The chromosomal changes found in this patient were different from those of previous reports, which mostly revealed trisomy 8. If anemia, low reticulocyte count and dyspoietic cells are sustained in Behcet's disease, physicians should be alert to the possibility of MDS with aberration in chromosome 8 and perform a bone marrow study for the proper diagnosis and treatment of the disease. We presented a case of Behcet's disease associated with MDS, which is the first Korean case.- - - - - - - - - - ranking = 20.447817823621keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
8/157. Complex karyotype and N-RAS point mutation in a case of acute megakaryoblastic leukemia (M7) following a myelodysplastic syndrome.The development of acute megakaryoblastic leukemia (ANLL-M7) following myelodysplastic syndrome (MDS) has been described only in a few reports, and the mutations necessary for this transformation are still unknown. In this study, we describe a case of ANLL-M7 with a previous history of MDS presenting a complex karyotype 46,XX, t(4;11)(q21;q23),del(5)(q13q33),t(12;13)(p13;q21) and N-RAS point mutation. During MDS, the patient showed a hypercellular myelogram with dysplasia of the three myeloid lineages and the clinical symptoms characteristic of the 5q- syndrome. During the follow-up, we observed the appearance of two additional subclones, one with an isochromosome 17q and another with polyploidy. The presence of an isochromosome 17q in one subclone and polyploidy in another is probably due to the genetic instability generated by the malignant transformation.- - - - - - - - - - ranking = 17.039848186351keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
9/157. Duplication of 1q in a child with down syndrome and myelodysplastic syndrome.cytogenetic analysis of bone marrow cells was performed on a 2-year-old African-American male with down syndrome (DS) and myelodysplastic syndrome (MDS), specifically refractory anemia with excess blasts in transformation (RAEB-T). Chromosome analysis showed, in addition to the constitutional trisomy 21, a trisomy of chromosome 11 and a dup(1)(q23q31). This duplication of 1q is apparently a new chromosomal abnormality in a child with MDS. Partial trisomy of the long arm of chromosome 1 has been reported by several authors and appears to represent a nonrandom chromosomal anomaly in patients with MDS/acute myelogenous leukemia and DS.- - - - - - - - - - ranking = 17.039848186351keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
10/157. Refractory anemia with ringed sideroblasts with a low IPSS score progressed rapidly with de novo appearance of multiple karyotypic abnormalities and into acute erythroleukemia (AML-M6A).We report here a case of refractory anemia with ringed sideroblasts (RARS) with a low risk group by the International Prognostic Scoring System (IPSS) at the time of diagnosis but had a rapid disease progression. Although the patient showed a normal male karyotype at the time of RARS diagnosis, his marrow cells had del(5)(q14) and add(17)(p12) abnormalities 2 months after the diagnosis, and later the marrow cells had multiple abnormalities and the patient expired 6 months after the initial diagnosis of RARS. The patient was diagnosed as having RARS with a low risk group by the IPSS classification, however, one should keep in mind that some patients with myelodysplastic syndromes with low risks by either the French-American-British (FAB) classification or the IPSS classification may have progressive disease and subsequential cytogenetic analysis could predict the disease progression.- - - - - - - - - - ranking = 3.4079696372701keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
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