1/36. 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 = 1keywords = anaemia (Clic here for more details about this article) |
2/36. Hyperdiploid karyotype in a childhood MDS patient.We present a rare case of a paediatric myelodysplastic syndrome (MDS) with congenital anomalies (frontal bossing and premature closure of anterior fontanelle). The case showed the clinical and biological features of a refractory anaemia excess blasts (RAEB). Bone marrow (BM) cytogenetics demonstrated a hyperdiploid karyotype, with several numerical abnormalities and unidentified rearrangements. fluorescence in situ hybridization (FISH) using chromosome specific alpha-satellite and whole chromosome-specific painting probes verified the hyperdiploid karyotype, and confirmed the origin of the unknown markers and rearrangements more reliably than would be possible using conventional cytogenetic techniques.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
3/36. remission induction of refractory anaemia with excess blasts in transformation by sole treatment with granulocyte colony-stimulating factor with persistent chromosomal abnormality.We report a patient with myelodysplastic syndrome (MDS), refractory anaemia with excess blasts in transformation, in whom complete remission (CR) was achieved with the administration of granulocyte colony-stimulating factor (G-CSF). The 76-year-old patient was admitted to our hospital with a fever and a productive cough; a diagnosis of pneumonia was thus made. Following treatment with antibiotics, the patient's condition improved, and MDS was diagnosed from peripheral blood and bone marrow examinations after the patient recovered from the infection. The patient achieved a sustained haematological CR that was confirmed by morphological and flow cytometric examination after treatment with G-CSF alone, although chromosomal abnormalities persisted. According to the literature, in almost all patients with acute myeloid leukaemia or MDS who were reported to achieve CR by G-CSF, the course was associated with infection, although our case did not have this complication during the course of G-CSF therapy. We suggest that patients with G-CSF alone without infection can achieve CR and that this may be related to a differentiation effect of G-CSF based on persistent chromosomal abnormality in this case.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
4/36. Chromosomal abnormalities and dyserythropoiesis in the preleukaemic phase of multiple myeloma.Two patients with multiple myeloma and one patient with a plasma-cytoma are reported in whom acute leukaemia developed following long-term treatment with melphalan. Each patient had a complete remission of the plasma cell disorder during which time the bone marrow was moderately to severely hypoplastic. The end of the clinical remission was heralded by a dyserythropoietic anaemia which persisted several months before the emergence of the terminal acute leukaemia. Marked chromosomal abnormalities were observed in marrow cells during the dyserythropoietic phase.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
5/36. Two myelodysplastic syndrome cases with the inv(11)(p15q23) as a sole chromosomal abnormality.Two myelodysplastic syndrome cases (one with acute nonlymphocytic leukaemia (M2) transformed from myelodysplastic syndrome (MDS), and the other with chronic myelomonocytic leukaemia following refractory anaemia with excess of blasts in transformation) showed the inv(11)(p15q23) as a sole chromosomal abnormality. Gene probes for c-Ha-ras-1 and c-ets-1 were hybridized to metaphase cells from bone marrow of these patients. c-ets-1 gene, which is mapped to 11q23, was demonstrated to have translocated to the short arm in the rearranged chromosome 11 in both cases. On the other hand, c-Ha-ras-1 gene, which is located at 11p15, was translocated to the long arm in the rearranged chromosome 11 in patient 1, and deleted in patient 2. Our findings suggest that there may be heterogeneity in molecular events involved in the chromosomal rearrangement among the inv(11)-carrying MDS.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
6/36. Fanconi's familial hypoplastic anaemia with some unusual features.A case of Fanconi's familial hypoplastic anaemia is described in a 48-year-old woman who had the usual haematological and constitutional abnormalities of this condition. Chromosomal studies on peripheral blood lymphocytes and direct marrow preparations demonstrated the chromosomal breaks previously described. The age of the patient and a congenital abnormality of breast development were unusual features, while the discovery of a benign liver tumour at necropsy is of interest, as the patient had received therapy with oxymetholone.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
7/36. Inherited aplastic anaemia with increased endoreduplications: a new syndrome of Fanconi's anaemia variant?Two sisters with aplastic anaemia without other congenital anomalies are described. Peripheral blood cytogenetic studies revealed an increase in endoreduplications in the absence of other unstable chromosome anomalies. Increased expression of T-antigen following SV40 virus infection in vitro was demonstrated in both sisters, as well as other normal family members. We feel that these patients represent a variant of Fanconi's anaemia. The importance of performing chromosome studies in idiopathic aplastic anaemia is emphasized.- - - - - - - - - - ranking = 11keywords = anaemia (Clic here for more details about this article) |
8/36. Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity?The osteopetroses are a heterogeneous group of disorders characterised by generalised bony sclerosis. The autosomal dominant form usually has a "benign" prognosis, in contrast to the "malignant" course of the autosomal recessive variety. In this paper we describe a kindred in which the phenotypic spectrum varied from an asymptomatic condition in adults to a severely affected infant, presenting with anaemia, hepatosplenomegaly, hydrocephalus and blindness. The findings in this family are reported and discussed to elucidate further the possible genetic heterogeneity in autosomal dominant osteopetrosis.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
9/36. Myelodysplastic syndrome with trisomy 8 in an adolescent with Fanconi anaemia and selective iga deficiency.We describe a patient with growth failure and multiple congenital anomalies characteristic of Fanconi anaemia, but without the classical feature of progressive bone marrow hypoplasia. Following treatment with growth hormone for a period of 8 years, he presented with myelodysplastic syndrome and a karyotypically abnormal clone in the bone marrow (47,XY, 8). The diagnosis of Fanconi anaemia was supported by the induction of abnormally high levels of characteristic chromosome aberrations in peripheral lymphocytes following exposure in vitro to the bifunctional alkylating agent mitomycin C. Immune function studies also identified a selective iga deficiency. The relative importance of interacting constitutional and exogenous factors involved in the development of preleukaemia in this patient is discussed.- - - - - - - - - - ranking = 6keywords = anaemia (Clic here for more details about this article) |
10/36. Fanconi's anaemia developing erythroleukaemia.A 15-year-old boy with Fanconi's anaemia (FA) for 10 years developed acute erythroleukaemia. During the leukaemic phase, granulopoietic stem cells (CFUc) were absent from his bone marrow and blood, but proliferation and differentiation of bone marrow cells could be seen in semipermeable diffusion chambers in vivo, and globin synthesis of erythroblasts had become imbalanced. Chromosomal lesions of peripheral blood lymphocytes differed in the leukaemic phase from those in the pancytopenic phase. These data indicate that erythro-, myelo-, thrombo-, and lymphocytic cell lines all were involved in both the leukaemic and the pancytopenic process. It is suggested that terminal myeloproliferative disease developed as part of the natural history of FA.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
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