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)

Myelodysplasia, characterized by varied reductions of peripheral blood elements with normal or hypercellular bone marrow, is relatively frequent among older patients and may evolve to acute leukemia. We reviewed findings in 35 patients whom, according to the FAB classification were distributed as follows: simple refractory anemia (RA) 34%, sideroblastic refractory anemia (SRA) 14%, refractory anemia with excess blast forms (RAEB) 31%, chromic myelomonocytic leukemia (CMML) 12% and refractory anemia with excess blast forms in transformation (RAEBT) 9%. Cytogenetic studies performed in 16 patients were abnormal in 5 (31%), all among patients with poor prognosis forms of the disorder. All patients had anemia; thrombopenia and neutropenia were more frequent in subtypes RAEB, CMML and RAEBT). Mean survival rate was 30 months, significantly greater in RA and SRA compared to the other groups. Infections and development of acute leukemia were the causes of death.
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PMID:[Myelodysplasias: clinical experience with 35 patients]. 215 45

We report here a rare transformation from refractory anemia with ring sideroblasts (RARS) to chronic myelomonocytic leukemia (CMML). A rare karyotype, inv (12), was also seen at the phase of CMML. A 76-year-old female consulted a physician because of hoarseness in June, 1983. An anemia was found and blood transfusions were made. In August, 1983, she was referred and admitted to Tsukuba University Hospital for a further examination of anemia. A diagnosis of MDS (RARS) was made by hematological examinations, and pyridoxamine was administered from September, 1983. The monocyte counts in the peripheral blood increased above 1,000/microliters continuously from June, 1985, and an exacerbation of anemia was also seen. At the second admission to our hospital in August, 1988, the diagnostic criteria for CMML by the FAB co-operative group was fulfilled. At that time, chromosomal analysis revealed an abnormal karyotype; 46XY, inv (12) (p13.3 q15). Even at the phase of CMML, ringed sideroblasts were also seen in 2.2% of nucleated cell count in the bone marrow. To our knowledge, only 12 cases have been reported as transformation from another type of MDS to CMML. The present case is thought to be a rare case of transformation of MDS. On the other hand, 8 cases with inv (12) associated with malignant hematological disorders have been reported previously. Four of the above 8 cases were MDS. A relationship between development of MDS and inv (12) was suggested.
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PMID:[Chronic myelomonocytic leukemia transformed from refractory anemia with ring sideroblasts with a rare abnormal chromosome, inv (12)]. 217 2

We studied clinical and biological features of five cases of hybrid leukemia. Three of the five patients were classified as biphenotypic leukemia because of the coexpression of myeloid/B lymphoid markers in patients 1 (FAB M2) and 2 (FAB CMMoL) and myeloid/T lymphoid markers in patient 3 (FAB M4). Patient 4 was identified as bilineal-biphenotypic leukemia because acute myelogenous leukemia (AML) (FAB M4) and acute lymphoblastic leukemia (ALL) (FAB L1) coexisted and each population coexpressed myeloid and T lymphoid markers. Patient 5 was identified as bilineal leukemia due to the conversion from AML (FAB M1) to ALL (FAB L1) at an interval of 3 months. The Philadelphia (Ph1) chromosome was negative in all cases. A leukemic blast colony formation using cell line 5637 conditioned medium as a stimulator was obtained in all four patients examined. Three of the five patients had been suffering from so-called stem cell disorders such as aplastic anemia in patient 2, trilineage myelodysplasia in patient 4 and refractory anemia with excess of blasts in transformation in patient 5. The pre-existing impairment of pluripotent stem cell was probably the background of these hybrid leukemia. Hybrid leukemia appears to have an inferior prognosis: an AML-directed chemotherapy resulted in a low remission rate (2/5) with a short duration of relapse free survival (1/2) and an ALL-directed chemotherapy produced no remission (0/3). Chronological phenotypic analysis revealed that hybrid features of leukemic blasts disappeared at the time of relapse in patient 1 and progression to AML in patient 2. Monitoring of lineage-associated markers should be required for the management of hybrid leukemia.
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PMID:Clinical characteristics of hybrid leukemia: report of five cases. 217 35

As part of a multicenter trial 12 patients with myelodysplastic syndromes (MDS) were treated with 14-day-cycles of recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF; 250 micrograms/m2 day s.c.). In addition, all patients received 20 mg/m2/day s.c. cytosine-arabinoside (Ara-C) 12 h after GM-CSF except for patients suffering from refractory anemia (RA) according to FAB classification. Courses were repeated after 4 weeks. In 11 evaluable patients, results according to FAB-classified MDS were as follows: RA, 1/2 response (R), 1/2 stable disease (SD); RAEB, 2/3 R, 1/3 SD; RAEB-T, 1/6 CR, 1/6 PR, 2/6 R, 2/6 progression; CMML, 1/2 SD. In 2 patients with RAEB-T, overt acute myeloid leukemia was observed 2 and 10 weeks after initiation of treatment. With few exceptions, treatment resulted in a prompt increase in granulocytes and eosinophiles. This was associated with improvement of infectious complications. Increases in red cells and platelets occurred variably and was apparently associated with responses of the underlying disease. Dose limiting side effects consisted of fever, severe fatigue and dolent local reactions at the site of GM-CSF injection. In addition, nausea and diarrhoea occurred frequently. Less often, respiratory and cardiovascular side effects were encountered. In summary, GM-CSF +/- Ara-C in MDS results in objective remission with manageable toxicity. Conceivably, this regimen will serve as a base for future treatment strategies against MDS.
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PMID:Recombinant human granulocyte-macrophage colony-stimulating factor and low-dose cytosine-arabinoside in the treatment of patients with myelodysplastic syndromes. A phase II study. 218 22

Prognostic factors affecting the leukemic transformation were studied in 43 patients with myelodysplastic syndrome (MDS). Acute leukemia developed in 17 cases and it was nonlymphocytic leukemia in every case. No remission was achieved following antileukemic therapy and most of the cases proved to be true drug-resistant leukemia. Initial granulopenia, thrombopenia or anemia alone did not influence the occurrence of leukemic transformation but pancytopenia indicates bad prognosis. According to FAB classification especially refractory anemia with excess of blasts (RAEB) and RAEB in transformation (RAEB-T) were often followed by leukemic transformation. The granulocyte-macrophage progenitor cell (GM-CFC) content of bone marrow were also studied. The GM-CFC content was decreased in each patient. There was no correlation between GM-CFC number and leukemic transformation, the growth-pattern in agar-gel culture, however, turned out to have prognostic importance. Leukemic type of growth, namely always preceded leukemic transformation.
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PMID:[Factors influencing leukemic transformation in myelodysplastic syndrome]. 219 92

A 56-year-old male was admitted to the Nihon University Hospital because of general fatigue and anemia on September 21st, 1985. He had mild hepato-splenomegaly. Hematological findings showed RBC 286 x 10(4)/microliters, Hb 6.0/dl, reticulocyte count 2.5%, platelet count 9.3 x 10(4)/microliters and WBC 2,400/microliters. An erythroblast per 100 leukocytes counted in a blood film was found. Bone marrow was erythroid hyperplasia with megaloblasts. The erythroblasts were PAS positive but not ringed sideroblasts. Other laboratory data including hemolysis were all negative. This case seemed to be diagnosed as refractory anemia (RA) according to the FAB classification. Chromosomal analysis of marrow cells, however, all revealed 46, XY, 20q- at diagnosis and 46, XY, 7q- 20q- after 22 months. Furthermore, Hb electrophoresis ahd family study indicated the presence of acquired HbH disease. Neither erythroid bursts (BFU-e) nor late erythroid progenitors (CFU-e) were detected. He has had progressive anemia without proliferation of blasts for over 2 years. From these findings, we postulate that the entity of erythremia should be distinguished from RA including many heterogeneous diseases.
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PMID:[An erythremia with acquired HbH disease and chromosomal abnormality]. 221 93

We report a case of acquired idiopathic sideroblastic anemia associated with adenine phosphoribosyltransferase (APRT) deficiency. A 72-year-old male had been troubled with urolithiasis since his teens. In 1984, he was referred to us because of chronic renal failure and anemia. He was diagnosed as having sideroblastic anemia and required red cells transfusion regularly. In June 1989, he was admitted to our hospital because of cerebral infarction. Peripheral blood analysis showed pancytopenia. Bone marrow aspiration revealed hypercellularity with 36.2% erythroblasts, and 18.5% ringed sideroblasts of all nucleated cells. According to the FAB classification, a diagnosis of refractory anemia with ring sideroblasts was made. As his urinary stone consisted of 2, 8-dihydroxyadenine by analysis of infrared spectrum, genetic and enzymatic studies were performed. These studies indicated APRT deficiency. He died of pneumonia accompanied with progressive renal failure on August 9, 1989.
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PMID:[Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]. 225 60

Chronic myelomonocytic leukemia (CMML) is a polymorphous malignant hematological stem cell disorder, characterized by abnormal hyperplasia of mature or immature cells of both monocytic and granulocytic series and with abnormal cellular morphology. It is an independent entity of chronic leukemia, as its prestage course is manifested by refractory anemia with monocytosis and the disease gradually evolves to CMML. In some cases, it finally becomes acute leukemia. In this study, the average white cell count of the patients was 29.3 x 10(9)/L.14 cases had leucocytosis, 7 leucopenia and 5 normal count. The absolute value of monocytes was 19 x 10(9)/L and the proportion of monocytes was 10-87%, with an average of 49%. In the leukopenic group with white cell count less than 4 x 10(9)/L, the absolute value of monocytes was less than 1 x 10(9)/L in 5 of the 7 cases. However, it was noticed that all the 5 cases had a proportion of monocytes greater than or equal to 10%. The authors would like to take this percentage as the diagnostic criteria for CMML, which is different from that adopted in FAB classification of 1982 as well as in the literatures. Statistics showed that P value of M/E, Mo/E, Mo/M were of apparent significance in the differentiation of CMML from normal controls and patients with other hematological diseases such as RA, RAEB, CML, CNL, M4 and M5.
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PMID:[An analysis of 26 cases of chronic myelomonocytic leukemia]. 226 33

We report a 56 year old patient with acute myelogenous leukemia (FAB classification: M2), in whom the number of mature myeloid cells similar to those seen in Ph-negative chronic myelogenous leukemia increased markedly 2 months after the diagnosis of refractory anemia with excess of blasts (RAEB). This is a rare case of leukemic evolution as a terminal event of RAEB.
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PMID:Transformation of refractory anemia with excess of blasts into acute myelogenous leukemia with Ph-negative chronic myelogenous leukemia-like characteristics. 229 65

Cytogenetic studies were performed in 120 patients with de novo myelodysplastic syndrome (MDS) classified according to FAB criteria. Twenty-eight patients had refractory anemia (RA), 14 had refractory anemia with ring sideroblasts (RARS), 45 had refractory anemia with blast excess (RAEB), 19 had refractory anemia with blast excess in transformation (RAEB-t), and 14 had chronic myelomonocytic leukemia (CMMoL). Fifty patients (42%) had clonal chromosome anomalies at initial analysis. The most common cytogenetic anomalies were: 5q- (11 patients), trisomy 8 (nine patients), -7/7q- (6 patients), 12p- (five patients), followed by structural anomalies of chromosome 17 (four patients), and loss of Y chromosome (three patients). The prognostic value of chromosome anomalies was examined by comparison of the significance of single chromosome anomalies (34 patients) versus multiple cytogenetic changes (16 patients). Patients with multiple anomalies had a shorter survival (8 months) than patients with single anomalies (18 months) or those with a normal karyotype (36 months). All these differences were significant. The incidence of multiple anomalies was higher in patients with RAEB and RAEB-t than in those with RA, RARS, and CMMOL (p less than 0.05). However, no chromosome anomaly was specifically associated with any group of FAB classification. Transformation to acute leukemia was observed in 25% of patients with normal karyotype, 41% of patients with single anomalies, and 50% of patients with multiple changes. The incidence of leukemic transformation was significantly higher in patients with multiple anomalies than in those with a normal karyotype (p less than 0.05). Thus, in the present study, FAB classification and chromosome anomalies were of independent prognostic significance. Sequential cytogenetic studies were performed in 23 patients to correlate the cytogenetic and clinical findings during the course of the disease. Six of seven patients with transformation to acute leukemia showed a karyotypic evolution. These findings agree with the view that an unstable karyotype can be associated with a poor prognosis.
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PMID:Results of chromosome studies and their relation to morphology, course, and prognosis in 120 patients with de novo myelodysplastic syndrome. 229 79


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