Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q8NB91 (FAB)
 3,573 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An inherent defect of erythroid differentiation at the colony-forming unit blast (CFU-blast) compartment and (or) an impaired response of early erythroid progenitors (BFU-E) to growth stimulation are both considered to contribute to anemia in myelodysplastic syndromes (MDS). With the intention of improving survival and growth of early erythroid progenitors we investigated the effect of stem-cell factor (SCF) and interleukin-3 (IL-3) alone and in combination with erythropoietin, on the in vitro erythropoiesis of 13 patients with MDS and of three normal controls. SCF and IL-3 alone did not promote erythroid colony growth in MDS, while 3 cases responded to erythropoietin alone. In each of these, BFU-E colony growth could be increased by SCF, which was also found in all normal bone marrows. Altogether 6 cases showed a significant enhancement of BFU-E colony numbers by the combination of SCF and erythropoietin as compared to erythropoietin alone (P = 0.036). Out of the 6 responding cases, 5 belonged to the FAB-classified subgroups refractory anemia (RA) and refractory anemia with ringed sideroblasts (RA/RS) (5/5), while 1 patient was classified as having refractory anemia with excess of blasts (RAEB) (1/4). No patient with refractory anemia with excess of blasts in transformation (RAEB-T) (0/4) responded. In spite of these positive effects, the absolute number of BFU-E colonies remained reduced in all MDS cases when compared to normal controls. IL-3 proved ineffective in increasing the response to erythropoietin in MDS although it increased erythropoietin-induced BFU-E formation in normal controls significantly. We conclude that the striking synergistic effect of SCF and erythropoietin on erythroid colony formation seen with normal bone marrow is conserved in most cases with RA and RA/RS. In RAEB and RAEB-T the intrinsic defect of the erythroid differentiation pathway cannot be overcome by SCF.
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PMID:The effect of stem-cell factor, interleukin-3 and erythropoietin on in vitro erythropoiesis in myelodysplastic syndromes. 779 98

Twenty-five consecutive patients with myelodysplastic syndrome (MDS) were followed in the Second Department of Internal Medicine, Miyazaki Medical School from 1984 to 1993. The diagnosis of MDS was morphologically based on the criteria of FAB. At the time of diagnosis, 9 patients had refractory anemia (RA), 1 had RA with ring sideroblasts (RARS), 6 had RA with excess blasts (RAEB), 6 had RAEB in transformation (RAEB-t), and 3 had chronic myelomonocytic leukemia (CMMoL). Prognostic factors involved in survival times and progression to leukemia were analyzed in these patients; FAB classification of MDS, age, sex, peripheral blood cell counts, bone marrow examination, karyotype, numbers of blasts. None of these prognostic factors had a significant effect on the prognosis of MDS patients. Study of the therapeutic effects on MDS patients revealed no significant increase of survival time in treated MDS patients compared to non-treated patients. Further, no significant difference in survival time was found between MDS patients treated with or without anticancer drugs. These results indicated that MDS patients were pathologically and therapeutically heterogeneous.
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PMID:[Study on prognostic factors in twenty-five patients with myelodysplastic syndrome]. 785 97

We investigated the hematological and clinical status of 145 patients with de novo myelodysplastic syndrome (MDS), 14 of whom (10%) had eosinophilia in the bone marrow (MDS-Eo). Most of these 14 patients had severe anemia. Their bone marrow cells exhibited trilineage dysplasia and some morphological abnormalities in the eosinophils, including disproportion of eosinophilic granules, basophilic granules, a ring-shaped nucleus, and vacuolation in the cytoplasm. However, these abnormalities were less prominent than those of acute myelomonocytic leukemia with eosinophilia (FAB: M4Eo). Three of the 14 MDS-Eo patients had refractory anemia (RA), seven had RA with excess of blasts (RAEB), and four had RAEB in transformation. Cytogenetic analysis revealed chromosomal abnormalities in 12 of 13 MDS-Eo patients (92%), in particular, there were major karyotypic abnormalities (MAKA) in eight patients (62%). Cytotoxic agents were not effective in the treatment of four patients after leukemic transformation occurred. These four patients died of the leukemic transformation while seven died of bone marrow failure. The other three MDS-Eo patients are still alive; two of them have already transformed to a leukemic phase. The duration of survival of these patients was significantly shorter than that of the other MDS patients. These findings suggest that bone marrow eosinophilia in MDS may be a poor prognostic factor that is strongly related to the existence of MAKA.
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PMID:Myelodysplastic syndrome with bone marrow eosinophilia: clinical and cytogenetic features. 787 7

The clinical data and hematological features of 29 children, under the age of 12 years, with primary myelodysplasia are presented. The diagnosis was made using the FAB (French-American-British) Cooperative Group criteria. There were 24 males and 5 females aged 4 months to 12 years (median 2.5 years) with marked male preponderance. Childhood myelodysplasia constituted 16% of all hematological malignancies and 36.7% of acute myeloid leukemias. The median duration of symptoms prior to diagnosis was 3 months. There were 15 cases of refractory anemia, one of refractory anemia with excess blasts, 3 of refractory anemia with excess blasts in transformation and 10 cases of chronic myelomonocytic leukemia. Five patients evolved to acute myeloid and 4 to acute lymphatic leukemia. The median duration of preleukemic phase in these patients was 7 months (range 4-29 months). The overall mean survival was short (5-9 months) in all the subgroups. Besides supportive therapy in most patients, two patients were treated with etoposide, one with alfa interferon 2b and one with high dose methylprednisolone. Our results show that myelodysplasia is not infrequent in children. The disease has an aggressive clinical course and may evolve into acute leukemia.
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PMID:Childhood myelodysplasia. 789 Mar 42

Four consecutive children with myelodysplastic syndromes (MDS) underwent matched allogeneic bone marrow transplantation (BMT). Ages ranged from 3.2 to 6.3 years. Diagnosis was assessed according to FAB classification: refractory anemia-RA (n = 1), RA with excess of blasts (RAEB) (n = 1), and juvenile chronic myelogenous leukemia (JCML) (n = 2). Initial treatment included transfusions for all of them, splenectomy (n = 2) and chemotherapy (n = 1). Patients were all prepared with busulfan 21 mg/kg (480 mg/m2), cytosine arabinoside 24,000 mg/m2, melphalan 140 mg/m2. Graft-versus-host disease (GVHD) prophylaxis associated cyclosporine-methotrexate. Engraftment was prompt and complete in all children. Toxicity included severe mucositis (n = 3), moderate veno-occlusive disease (n = 2), acute GVHD (n = 3), chronic GVHD (n = 1). Sequelae have not yet been seen. All patients are alive and disease-free with a follow-up ranging from 7 to 35 months, with a Karnofsky score of 90-100%. Combined busulphan conditioning can offer an alternative to total body irradiation-based regimens in order to avoid late side-effects in children.
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PMID:Intensified conditioning regimen with busulfan followed by allogeneic BMT in children with myelodysplastic syndromes. 792 Mar 11

One hundred eighty-eight unselected consecutive patients with "de novo" myelodysplastic syndrome (MDS) were studied cytogenetically. They were subclassified as 4 refractory anemia with ringed sideroblasts (RARS), 67 refractory anemia (RA), 58 refractory anemia with excess of blasts (RAEB), 40 RAEB in transformation (RAEB-t), and 19 chronic myelomonocytic leukemia (CMML). The overall incidence of chromosome abnormalities was 69%. The RAEB and RAEB-t patients showed karyotypic changes, more often than RA and CMML (76% and 100% vs. 56% and 42%, respectively). The most frequent single anomaly was del(5)(q13-q22q33) (22 cases), followed by monosomy 7 or del 7q (11 cases), del(11) (q14q23) (8 cases), trisomy 8 (4 cases). Complex karyotypes (defined by the presence of three or more structural or numerical abnormalities) were detected in 33 patients. With regard to the FAB classification, del (5)(q13q33) was associated with RA, and complex rearrangements with RAEB and RAEB-t. Leukemic transformation occurred in 66 patients (46%), none with a normal karyotype or del(11)(q14q23) as single abnormality. In patients carrying 5q- alone, acute evolution correlated with proximal breakpoint localization, being found in no case with del(5)(q13q33) but in three out of four cases with del(5)(q22q33). Acute leukemia (AL) progression happened in all cases with complex rearrangements and monosomy 7 or del(7q). Two of the four trisomy eight patients evolved in AL. By using the Cox proportional hazard regression analysis it was demonstrated that the karyotype abnormality was a significant predictor of leukemic transformation (P < 0.001). Patients with abnormal karyotypes without complex abnormalities had a survival (median survival 12 months) shorter than that of cases with only normal metaphases (median 83 months) (P < 0.001); patients with a mixture of normal/abnormal metaphases had a median survival of 31 months. The median survival for complex karyotypes was 7 months. Among cases with single defects, del(5)(q13q33) showed the best survival (64 months), monosomy 7 and del(7q) the worst (7 months) (P < 0.001).
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PMID:Karyotype in myelodysplastic syndromes: relations to morphology, clinical evolution, and survival. 803 76

We analyzed the relationship between autoantibody and dermatosis in 22 patients with myelodysplastic syndrome (MDS). These MDS patients consisted of five cases with refractory anemia (RA), three RA with ringed sideroblasts (RARS), eight RA with excess of blasts (RAEB), four RAEB in transformation (RAEB-t), and two chronic myelomonocytic leukemia (CMMoL) according to the FAB classification of MDS. The autoantibody was detected in seven patients, of whom four had rheumatoid factor (RF) and three had antinuclear antibody (ANA). Neither RF-positive nor ANA-positive MDS patients had other autoantibodies. Dermatosis was observed in nine cases of these 22 MDS patients. Five of 7 MDS patients (71%) with autoantibody developed dermatosis in their clinical course, as did four of 15 MDS patients (27%) without autoantibody. All four MDS patients with RF had dermatosis such as anaphylactoid purpura, xerotic dermatitis, thrombophlebitis, ephelides, and genital herpes. One of three MDS patients with ANA had pruritus senilis. The four MDS patients without autoantibody had dermatosis such as erythema nodosum, ichthyosis vulgaris, Sweet syndrome, and thrombophlebitis. Three of four MDS patients with RF had normal liver function tests, while three MDS patients with ANA showed liver dysfunction. Our studies presented here suggested that the dermatosis could develop frequently in MDS patients with autoantibody and that RF was closely related to development of dermatosis in MDS patients, although the dermatosis is not specially fixed.
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PMID:Relationship between autoantibody and dermatosis in myelodysplastic syndrome. 815 7

We treated a 16-month-old girl with myelodysplastic syndrome (MDS; refractory anemia with excess of blasts subtype, RAEB by FAB classification) that developed into acute megakaryoblastic leukemia (ANLL-M7). The blast cells were positive for CD41 shown by flow cytometry and for platelet peroxidase by electron microscopy. Cytogenetically, five kinds of abnormal karyotypes were apparent at the initial visit and karyotypic progression (clonal evolution) was also evident. These karyotypes were considered to be derived from the putative original clone, 48,XX, +6, +21. The observed karyotypes were considered 50,XX, +4,add(4)(q31), +6,add(7)(p22),add(10)(q24),add(12)(q11), +20, +21, + mar[karyotype A];48,XX,add(4)(q31), +6,add(10)(q24),add(12)(q11), +21 [karyotype B];48,XX, +6,t(6;13)(p23;q14), +21 [karyotype C];51,XX, +X, t(6;13)(p23;q14), + der(6)t(6;13)(p23;q14), +21, +21, + mar [karyotype D]; and 49,XX, +X, -3,t(6;13)(p23;q14), +der(6)t(6;13)(p23;q14), -12, +21, +21, + mar [karyotype E]. It seems karyotypes B and C were derived from the putative clone; karyotype B developed into karyotype A; and karyotype C developed into karyotype E through karyotype D. After development of ANLL-M7, the cytogenetic study showed a karyotype with further karyotypic progression. The patient was treated with high-dose cytosine arabinoside (HD AraC) followed by allogeneic bone marrow transplantation. Despite intensive care, she died 3 months after the transplantation.
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PMID:Childhood myelodysplastic syndrome with clonal evolution progressing to acute megakaryoblastic leukemia (ANLL-M7). 822 7

80-year-old female was admitted to our hospital because of pancytopenia. Her peripheral and bone marrow examinations were performed. According to the criteria of FAB classification, the diagnosis was myelodysplastic syndrome (refractory anemia with excess of blasts in transformation). Etoposide was administered to decrease leukemic blasts. However, she still had high fever and increasing of CRP. Hematological data also showed the increasing of WBC count, blast cells, and LDH enzyme. Antibiotics and anti fungal drugs were also not effective. She died of respiratory failure, although the cautions and extensive treatment was tried. Autopsy findings revealed proliferation of mucor in the mucosa of stomach. So, we reported here a very rare case of gastric mucormycosis, localizing exclusively in the stomach which was difficult to diagnose while she was alive.
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PMID:[Myelodysplastic syndrome developing acute myelocytic leukemia with gastric mucormycosis]. 825 69

The authors report an unusual case of myelodysplastic syndrome (MDS) associated with relapsing polychondritis (RP), which developed at almost the same time as MDS. The initial diagnosis was MDS, refractory anemia (RA) subtype, according to the FAB classification. Symptoms of RP were apparently controlled by oral administration of prednisolone (PSL), although MDS was not. Within 1 month after the diagnosis, monocytosis and thrombocytopenia without excess of blasts became prominent and transformation from RA to chronic myelomonocytic leukemia (CMML) was recognized. Combination chemotherapy including daunorubicin (DNR) and cytosine arabinoside (ara-c) did not subdue the progressive monocytosis and thrombocytopenia. Finally, the patient died of pulmonary hemorrhage 3 months after the onset of the disease. The prognosis of MDS may be poorly influenced by association with RP.
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PMID:Myelodysplastic syndrome associated with relapsing polychondritis: unusual transformation from refractory anemia to chronic myelomonocytic leukemia. 833 99


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