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PubMed1986

Hematologic and cytogenetic remission of 5q-refractory anemia after syngeneic bone marrow transplantation.

Refractory macrocytic anemia with hypolobulated megakaryocytic nuclei and partial deletion of the long arm of chromosome 5 has been termed the 5q- syndrome. Although long survival has been reported in a few cases of 5q- refractory anemia, accumulating evidence suggests that this syndrome is a preleukemic state with risk of transformation to acute nonlymphocytic leukemia as well as complications of bone marrow failure. This report describes the first apparently successful therapy for this disorder in a young man who originally presented with a clinical picture consistent with pure red cell aplasia and normal marrow chromosomes but with hypolobulated megakaryocytic nuclei. He was treated with vitamins, androgens, and sequential trials of immunosuppressive therapy, all without response. Two years after diagnosis, repeated marrow cytogenetic studies showed a 5q- abnormality in 70 percent and later in 100 percent of marrow metaphases. Because of transfusion-induced hemosiderosis and the availability of a cytogenetically normal monozygotic twin, bone marrow transplantation was undertaken. In light of the clonal (and suspected preleukemic) nature of the 5q- syndrome, the patient's marrow was ablated with a busulfan plus cyclophosphamide regimen used for patients with nonlymphocytic leukemia. Sustained engraftment of cytogenetically normal marrow ensued. Two years after transplantation, and following six months of regular phlebotomy, the patient was hematologically normal with a normal serum ferritin level.

Adult↗
PubMed1986

Factors influencing leukemic transformation in refractory anemias with excess of blasts, with ringed sideroblasts, and without ringed sideroblasts.

The association between leukemic transformation and various features recorded at presentation in patients with refractory anemia with excess of blasts and with or without ringed sideroblasts was analyzed in 255 patients using the proportional hazard model. Features associated with higher transformation rates were: higher values of blasts in peripheral blood or bone marrow; serum haptoglobin; vitamin B12; megakaryocytes in bone marrow; morphological abnormalities in granulo- or megakaryocyte series; male sex; circulating megakaryocytes in peripheral blood; older age; and lower ringed sideroblast proportion. Multivariate analysis was also performed using the following predictor variables: presence or absence of refractory anemia with excess of blasts; sex; abnormal granules in granulocytes; age; and mononuclear large megakaryocytes. Patients were divided arbitrarily into low (hazard ratio, less than 0.45), intermediate (hazard ratio, 0.45-1.85) and high (hazard ratio, greater than 1.85) risk groups. The cumulative leukemia-free rates in the low and intermediate risk groups showed long plateau phases at 95 and 71%, respectively, while in the high risk group, the rate was 10% at 5 years. For clinical purposes, the low risk group should be considered to have nonpreleukemia and the high risk group to have preleukemia.

Adolescent↗
PubMed2000

[Extensive primary cutaneous mucinosis associated with refractory anemia with excess of blast].

BACKGROUND: We describe an original case of a primary cutaneous mucinosis, associated with a refractory anemia with excess of blast. CASE REPORT: A 65 year-old female consulted for erythematous-purple blush reticulated and large plaques that progressively developed on the trunk and limbs. Biopsies showed abundant dermis mucin deposits with a perivascular lymphocytic infiltrate. The epidermis was normal. Laboratory evaluation showed refractory anemia with excess of blast, associated with cytogenetic abnormalities. After two years course, the progressive aggravation of the myelodysplastic syndrome was associated with a progressive extension of the cutaneous mucinosis. DISCUSSION: This is the first report of an atypical primary diffuse and extensive cutaneous mucinosis. Primary cutaneous mucinosis may be associated with systemic diseases. To our knowledge, the association with refractory anemia with excess of blast has not been described previously. Mucine deposits may be considered as a consequence of neutrophilic dysfunction that are observed in myelodysplastic syndromes.

Aged↗
PubMed1995

Lineage-unrestricted hematologic response to granulocyte colony-stimulating factor in a patient with refractory anemia with excess blasts.

We report a patient with refractory anemia with excess blasts who showed a lineage-unrestricted hematologic response to granulocyte colony-stimulating factor (G-CSF). After 17 months of a stable disease state, the patient developed pneumonia, progression of cytopenia, and reduced cellularity and blast mass in the bone marrow. He was given G-CSF to overcome the pneumonia. Not only the neutrophil count, but also the platelet count increased soon after initiation of the G-CSF therapy; both counts became normal on the fifth day of the G-CSF therapy. Additionally, the anemia improved gradually. The neutrophil and platelet counts were maintained in the normal range for 3 months after cessation of the G-CSF. In vitro studies showed that G-CSF alone stimulated megakaryocyte colony formation from bone marrow mononuclear cells (BMMNC), and accessory cells in the BMMNC were necessary for expression of this G-CSF-induced in vitro megakaryocytopoiesis. These results suggest that, in coordination with accessory cells, G-CSF stimulated megakaryocytopoiesis in the patient. This case provides valuable information for understanding the mechanisms of a lineage-unrestricted hematologic response to G-CSF, which is very rarely observed in MDS.

Anemia, Refractory, with Excess of Blasts↗
PubMedDate not supplied

Ultrastructural abnormalities of bone marrow erythroblasts in refractory anemia.

Ultrastructural abnormalities of erythroblasts in 30 patients with refractory anemia (RA) according to FAB classification were studied. Nuclear clefts, iron-laden mitochondria, and myelin figures in cytoplasm were most frequently observed. Eleven patients (36.7%) with nuclear clefts of erythroblasts had a higher platelet count and higher incidence of cytogenetic abnormalities linked to poor prognosis than the patients without nuclear clefts. They also had a higher frequency of leukemic transformation and shorter survival than the patients without nuclear clefts. The nuclear clefts of erythroblasts, which are the result of impairment of DNA metabolism or nuclear formation and fusion during mitosis, may be one of the adverse prognostic factors for patients with RA.

Adolescent↗
PubMed1992

[Neutrophilic dermatosis in a patient with refractory anemia].

A 46-year-old man diagnosed as refractory anemia was hospitalized because of high fever and extensive erythema with ulceration in the femoral region. His peripheral blood examination showed marked leukocytosis (WBC 31,500/microliter:neutrophilic 90%) and anemia (Hb 8.6 g/dl. In spite of administration of antibiotics, the cutaneous ulcer rapidly extended to the right thigh and became necrotic. The bacterial culture of the cutaneous lesion showed no growth and a skin biopsy showed infiltration of neutrophils in the dermis. He became afebrile and his cutaneous lesion improved after administration of corticosteroid. When the dose of corticosteroid was decreased, cutaneous erythema and nodules appeared at other sites repeatedly, and disappeared after the dose of corticosteroid was increased. The cutaneous lesions had characteristics of both Sweet's syndrome and pyoderma gangrenosum. Moreover, the patient had immunological abnormalities and decreased neutrophilic functions (chemotaxis and O2- generation). Thus, it was suggested that the cutaneous lesions of this patient could be diagnosed as "neutrophilic dermatosis of MDS", and corticosteroid was recognized to be very effective in treating these skin lesions.

Anemia, Refractory↗
PubMed1987

[The so-called refractory anemias].

A short review is presented of the primary and the secondary types of therapy-refractory anemia. Special emphasis is placed on the newest results obtained with therapeutic plasmapheresis and with recombinant human erythropoietin.

Anemia, Refractory↗