Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015672 (fatigue)
 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have identified partial trisomy 1q in 2 patients with different hematologic disorders. The first patient was a 55-year-old female with myelosclerosis and myeloid metaplasia diagnosed at age 38 years presenting with anemia, fatigue, bruising, fever, and splenomegaly. At age 56, she had 50--95% myeloblast cells and 95--100 nucleated RBC precursors per 100 WBC. Chromosome analysis of unstimulated leukocytes with Q, G, and C banding showed 46,XX,-6,+t(1;6) (q25;p22) in all metaphase cells. In vitro incorporation of Fe55 was demonstrated 90% of metaphases by autoradiography. The second patient, a 49-year-old male, was diagnosed as having polycythemia vera at age 30 during a regular checkup. He since developed hepatosplenomegaly. Chromosome analysis from a direct bone marrow preparation at age 44 and 45 showed grossly normal karyotypes. At age 49, his marrow by Q and G banding showed almost 100% of cells with 46,XY,-13,+t(1;13) (q12;p12). Eleven cases of trisomy of 1q have been reported in various hematologic disorders. It is apparent that partial trisomy 1q represents another nonrandom chromosomal abnormality, in addition to the most common nonrandom chromosomal aberrations, such as the Philadelphia chromosome, trisomy 8, trisomy 9, and monosomy 7 in hematologic disorders.
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PMID:Partial trisomy of the long arm of chromosome 1 in myelofibrosis and polycythemia vera. 60 27

A 53-year-old woman was admitted to our hospital on Nov. 16, 1987, because of general fatigue. On admission, she had hepatosplenomegaly and her peripheral blood profile showed a white blood cell count (WBC) of 309 x 10(3)/microliters with immature neutrophils, a hemoglobin level (Hb) of 7.6 g/dl, platelet count (PLT) of 536 x 10(3)/microliters, neutrophilic alkaline phosphatase (NAP) score of 44. Both Vitamin B12 and LDH levels were high. The bone marrow showed marked myeloid hyperplasia. In a cytogenetic study, Ph1 was found in 3 of 8 metaphases and Ph1 with an additional abnormality of 8 trisomy was noted in 5 of 8 metaphases. She was diagnosed as having chronic myelogenous leukemia (CML) and treated by i.m. injection of interferon (IFN)-alpha at a daily dose of 6 x 10(6) U. Administration of IFN-alpha induced fever for a few days. WBC, PLT count and LDH level gradually decreased, and the NAP score and hepatosplenomegaly improved. She achieved remission in February, 1988. Administration of IFN-alpha was stopped in April, 1988, when the bone marrow showed hypocellularity and normal karyotype. She was treated with 20 mg of prednisolone daily from May until August, because of progressive pancytopenia. She had received no treatment until July, 1989. In May, 1989, the bone marrow again showed myeloid hyperplasia and Ph1 was found in all cells analyzed. Therefore, we resumed IFN-alpha treatment. It is interesting that remission of CML continues for more than one year after discontinuation of IFN-alpha in this case.
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PMID:[One-year remission of chronic myelogenous leukemia (CML) after discontinuation of interferon-alpha]. 221 81

The preleukemic syndrome occurs mainly after middle age. We report 11 patients, aged 62 to 92 years, who presented with weakness, fatigue, malaise and pallor. Eight patients died; survival from the time of diagnosis was between 2 and 21 months. Two of them developed acute myelomonocytic leukemia. A third patient developed Philadelphia chromosome-negative chronic myeloid leukemia within 9 months. Serum unsaturated B12 binding capacity and transcobalamin I were elevated in this patient, preceding the transformation to chronic myeloid leukemia. Five other patients died from sepsis or pneumonia. All patients were anemic, and 10 were leukopenic. Bone marrow was hypocellular in 1 and hypercellular in 10 cases. Chromosomal studies were performed in five patients, with three showing abnormal findings: 47xx, trisomy 8 and a tetraploid karyotype 92xxyy5q-. No cytotoxic treatment should be given during the preleukemic phase until transformation to acute leukemia occurs. Since preleukemic patients are very susceptible to infections, early diagnosis of the condition is important, as is supportive care in the case of surgery.
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PMID:Preleukemic syndrome in elderly patients--report of 11 cases. 385 73

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.
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PMID:Behcet's disease associated with myelodysplastic syndrome: a case report. 1064 51

Acute myeloid leukemia (AML) is a morphologically diverse group of hematopoietic malignancies characterized by proliferation of immature cells that arise in the myeloid progenitor cells of the bone marrow. It shows cutaneous lesions relatively rarely. The most common cutaneous manifestation is the appearance of one or several tumors. An association of AML with skin involvement and trisomy 8 has rarely been reported. We present the case of a 74-year-old woman that presented with fatigue, nausea, dyspnea, and night sweats. On physical examination we found no hepatosplenomegaly, peripheral lymphadenopathy, or skin abnormalities. Hematological examination revealed Hb: 8.4 g/dl, PLT: 35,000/ml, WBC 105,000/ml, and blasts 51%. Bone marrow aspiration showed blasts 88%. Cytogenetic findings in the marrow showed trisomy 8. The patient received 3 courses of systemic chemotherapy with aracytin and idarubicin and then, while she was in remission, multiple red nodules developed on the upper and lower limbs. A skin nodule from the right arm was excised and histology showed a diffuse infiltration of the dermis consisting of large cells with round to oval nuclei and little basophilic cytoplasm. Immunohistochemistry was performed and the neoplastic cells showed strong positivity for MPO but were negative for LCA. Accordingly, a diagnosis of AML involving the skin was made. The patient received another course of systemic chemotherapy with aracytin and idarubicin and is in good condition.
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PMID:Skin relapse of acute myeloid leukemia associated with trisomy 8. 1799 63

Chromosome 1 pericentromeric heterochromatin (1q) has been shown to play an important role in the pathogenesis of non-Hodgkin lymphoma and multiple myeloma. Myelodysplastic syndrome (MDS) results from marrow failure in two or more cell lineages. Although trisomy 1q has been reported in MDS, it is usually present with additional common abnormalities such as trisomy 8, monosomy 5 or monosomy 7, leading to speculation that 1q abnormalities are mostly secondary events representing clonal evolution. We report two cases of MDS in which consistent involvement of 1q heterochromatin is seen as the primary clonal abnormality. Both patients presented with fatigue and pancytopenia. Based on the published reports and our cases, we propose that the 1q heterochromatin plays a vital role in the pathophysiology of MDS. Abnormalities involving 1q result in aberrant heterochromatin/euchromatin junctions, leading to gene dosage abnormalities. Further studies of 1q abnormalities in MDS might provide specific insights as to the exact role of the excess 1q heterochromatin in the etiology of MDS.
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PMID:Role of chromosome 1 pericentric heterochromatin (1q) in pathogenesis of myelodysplastic syndromes: report of 2 new cases. 1833 74

We describe a 79-year-old patient who presented with fatigue, weight loss, pancytopenia and a papular exanthem. Previous attempts to taking bone-marrow biopsies had resulted in a 'dry tap', with no material collected, suggesting idiopathic myelofibrosis. Histological examination of skin biopsies showed dermal infiltration of monocytoid cells, resulting in a diagnosis of acute myeloid leukaemia (French-American-British M5 morphology) with leukaemia cutis (LC). Numerous abnormalities of chromosome 8 (trisomy or tetrasomy) have been identified in association with LC. We performed fluorescent in situ analysis on cutaneous tissue using directly labelled probes for various gene loci often involved in patients with AML; these tests showed deletion of p53 and excluded trisomy 8. However, application of probes for AML/ETO, MYC and telomere 8q revealed a gain at 8q22/8q24/8q telomere in a significant number of infiltrating cells. We hypothesize that a partial gain at 8q rather than trisomy of the whole chromosome 8 exhibits an association with LC in AML.
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PMID:Papular exanthem discloses acute myeloid leukaemia: interphase fluorescence in situ hybridization revealed deletion of p53 and gain at 8q22/8q24/Tel8q without trisomy 8. 1943 43

Here we report a 3-year-old boy with myelomastocytic leukemia. The patient presented with fatigue and right eye proptosis. Bone marrow revealed acute myeloid leukemia with t(8;21) and trisomy 8. Induction therapy produced marked reduction in marrow myeloblasts with the emergence of 13% atypical mast cells. These cells were subsequently identified in retrospect in the diagnostic marrow consistent with myelomastocytic leukemia. His clinical course was notable for the difficulty in the eradication of the leukemic process and resembled that of adults with systemic mastocytosis with associated hematologic non-mast cell lineage disease. To the best of our knowledge, this is the youngest individual reported. The implications of mast cell lineage involvement in acute myeloid leukemia are reviewed.
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PMID:Myelomastocytic Leukemia With t(8;21) in a 3-year-old Child. 2204 88

A 96-year-old woman with a 5-year history of multiple myeloma was admitted to our hospital because of increasing fatigue and fever. Bone marrow plasma cell analysis showed t(11;14), del(13q), and del(17p13). Her condition deteriorated, and she developed plasmacytosis resembling plasma cell leukemia. Chromosome analysis showed trisomy of chromosome 8 in the circulating plasma cells. The plasmacytosis resolved spontaneously without chemotherapy after about 5 weeks, and the trisomy became undetectable. The findings suggest that trisomy 8 might have contributed to the transient plasmacytosis, and that chromosome 8 carries genes associated with plasma cell proliferation, maturation, and apoptosis.
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PMID:Transient Plasmacytosis With Trisomy of Chromosome 8 in a Patient With Multiple Myeloma: A Case Report. 2914 55