Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We described six patients with t(11;14)(q13;q32) in lymphoid malignancies. Based on the histologic or morphologic findings of these patients, malignant lymphoma diffuse large cell (ML-DL) was diagnosed in two patients, small lymphocytic (SL) in one, mantle zone lymphoma (MZL) in one, prolymphocytic leukemia (PLL) in one, and chronic lymphocytic leukemia with > 10% prolymphocytes (CLL/PL) in one. Three cases showed involvement of the gastro-intestinal tract, and four were leukemic. Five cases were dead 12 to 25 months after the time of chromosomal analysis. Immunological studies revealed that all the patients were positive for CD5, CD20, HLA-DR, and only one was weak positive for CD10. Using probe b, SstI-Sst I segment, Southern blot analysis showed the rearrangement of BCL-1 gene in a patient with MZL. Our results suggested that t(11;14) is found in lymphoid malignancies with mature B-cell phenotype and that hepatosplenomegaly, gastrointestinal involvement, leukemic manifestation, and poor prognosis are common clinical features.
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PMID:[Translocation t(11;14) (q13;q32) in six patients with lymphoid malignancies of mature B-cell phenotype]. 813 8

We described a case of adult T cell leukemia (ATL) not associated with human T-cell leukemia virus type I (HTLV-I), a clinical entity that was first reported by Shimoyama et al. A 79-year-old male was admitted with anorexia and fever in October, 1989. Physical examination revealed marked hepatosplenomegaly and superficial lymphadenopathies. Hematological examination revealed marked leukocytosis (136,300/microliters) with abnormal lymphoid cells showing highly lobulated nuclei. Hypercalcemia (11.2 mg/dl) and elevation of lactic dehydrogenase were also recognized. Surface marker analysis showed that the abnormal lymphoid cells in the peripheral blood were positive for CD2 and CD4 but negative for CD8. Southern blot analysis of the DNA from peripheral blood leukemic cells revealed monoclonal rearrangement of T-cell receptor beta-chain gene. The clinical and hematological findings of the patient were compatible with those of acute type ATL, however, serum anti-HTLV-I antibody was negative and HTLV-I proviral DNA was not detected in the leukemic cells by Southern blot analysis. Furthermore, the polymerase chain reaction showed no integration of the HTLV-I proviral DNA in the leukemic cells.
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PMID:[HTLV-I negative adult T cell leukemia; a case report of acute type]. 829 28

Forty-six nodal T-cell lymphomas, classified according to the updated Kiel classification, were investigated for the presence of Epstein-Barr virus (EBV) DNA by polymerase chain reaction (PCR), EBER 1 and 2 (EBER 1/2) and latent membrane protein-1 (LMP-1) expression. A combination of RNA in situ hybridization and immunohistochemistry was used to establish the phenotype of the Epstein-Barr virus harbouring cells. In 21 of 45 cases Epstein-Barr virus DNA sequences could be detected with the polymerase chain reaction. In 15 cases (14 of 21 EBV PCR positive cases), EBER 1/2 positive cells could be demonstrated. As judged by morphology, EBER 1/2 expression was found in nonneoplastic and neoplastic lymphoid cells. Double staining revealed that more than 80% of the EBER 1/2 harbouring cells, lacked B-, T- or histiocytic markers, suggesting down regulation of T- and B-cell markers by Epstein-Barr virus. In eight of 15 cases some EBER 1/2 positive T-cells (CD3, CD45RO, CD43) morphologically resembling tumour cells were found. In nine of 14 cases tested EBER 1/2 positive non-neoplastic B-cells (CD20) were seen. Based on in situ hybridization results, four patterns of EBER 1/2 positive cells were found, i.e. single cells (< 1 per medium power field (mpf), n = 3), scattered (1-25/mpf, n = 4), clustered (26-100/mpf, n = 5) and diffuse (> 100/mpf, n = 3). In eight of 15 cases a clustered or diffuse pattern of EBER 1/2 positive cells was found and these lymphomas were therefore considered to be strongly associated with Epstein-Barr virus. In these lymphomas LMP-1 expression was found to be associated with an aggressive clinical course and hepatosplenomegaly.
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PMID:Detection of Epstein-Barr virus nucleic acid sequences and protein in nodal T-cell lymphomas: relation between latent membrane protein-1 positivity and clinical course. 831 34

We report two cases of Philadelphia chromosome (Ph)-positive acute leukemia with definite myeloid markers. Ph was the sole chromosomal abnormality at presentation, and neither eosinophilia, basophilia, thrombocytosis nor hepatosplenomegaly was present. In both cases, Ph+ myeloblasts showed positive stain for myeloperoxidase and naphthol ASD chloroacetate esterase, which fulfilled the FAB criteria of acute myelogenous leukemia (AML). Ph+ myeloblasts co-expressed myeloid and B-lymphoid antigens (CD10, CD13, CD19 and CD33). In case 1, myeloblasts rearranged M-BCR, and the expression of M-BCR/ABL chimeric RNA was demonstrated by using the reverse transcription polymerase chain reaction (RT-PCR). They also clonally rearranged IGH. Ph clone disappeared on cytogenetic analysis in remission, and granulocytes in remission did not have rearranged M-BCR. In case 2, morphocytochemically distinct myeloid and lymphoid blast populations were seen. Myeloblasts and lymphoblasts were enriched > 96% as CD19-/CD33+ and CD19+/CD33- populations, respectively. Both of them possessed the identical rearrangement of IGH and M-BCR, indicating a common leukemic progenitor cell origin. Furthermore, m-BCR/ABL was detected in addition to M-BCR/ABL on RT-PCR. Accordingly, both cases were diagnosed as de novo Ph+ acute leukemia rather than as chronic myelogenous leukemia in blastic crisis. Their mixed B-lymphoid/myeloid characteristics strongly suggest that so-called 'Ph+ AML' is derived from Ph+ myeloid/B-lymphoid stem cells.
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PMID:B-lymphoid/myeloid stem cell origin in Ph-positive acute leukemia with myeloid markers. 832 35

Spread and distribution of Coxiella burnetii were investigated immunocytochemically and antigen dissemination was correlated with light microscopic alterations in Balb/cJ (H-2d) and C57BL/6J (H-2b) mice. Intraperitoneal inoculation of C. burnetii resulted in a self-limiting systemic infection. Gross findings consisted of hepatosplenomegaly and histological lesions were characterized by microabscesses and granulomas in numerous organs including spleen, liver, mesentery, bone marrow, lymph nodes, pancreas, heart and uterus. In addition, splenic lymphoid depletion, venous microthrombi and reduction of bone marrow cells were observed. Coxiella burnetii antigen was demonstrated immunocytochemically in the aforementioned organs, especially in spleen, liver and most of all in the bone marrow. Coxiella antigen was detected in macrophages, macrophage precursor cells, and occasionally endothelial cells. Numerous C. burnetii antigen-positive cells were observed between 5 and 12 days post-infection; thereafter, the amount of C. burnetii antigen decreased rapidly. Immunopositivity was detectable until 30 and 44 days post-infection in the bone marrow of Balb/cJ and C57BL/6J mice, respectively. Severity of histological lesions was associated with presence and clearance of C. burnetii antigen. Specific IgM antibodies were detected 4 days after infection and IgG seroconversion was noticed 7 to 10 days post-infection. Coxiella burnetii-specific IgM and IgG antibodies were still present 150 days after infection. Significant strain-specific differences in the antibody response were not found. The findings demonstrate systemic spread of C. burnetii, especially to bone marrow, spleen and liver, and antigen distribution was closely correlated with the appearance and degree of histological lesions.
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PMID:Spread and distribution of Coxiella burnetii in C57BL/6J (H-2b) and Balb/cJ (H-2d) mice after intraperitoneal infection. 847 67

Heavy chain diseases (HCD) are immunoproliferative disorders characterized by the production of monoclonal immunoglobulin molecules composed of deleted heavy chains devoid of light chains. The diagnosis is established by immunoelectrophoresis (possibly combined to immunoselection) or immunofixation. The clinicopathologic features of gamma HCD are heterogenous, often somewhat similar to macroglobulinemia. Some patients show no evidence of underlying malignant lymphoproliferation. Autoimmune disorders are frequent. mu HCD is rare and often presents as chronic lymphocytic leukemia with hepatosplenomegaly and vacuolated plasma cells on bone marrow smears. Alpha chain disease is the most frequent. In its usual digestive form, the clinicopathologic pattern is uniform. The main clinical features are chronic diarrhea and severe malabsorption syndrome. At the initial stage, there is a diffuse lymphoplasmocytic infiltration of the small intestine and mesenteric nodes, sometimes reversible after treatment by antibiotics alone. At the terminal stage, a malignant lymphoma, often of immunoblastic type, occurs. The natural history and epidemiology of alpha HCD should provide insights into the pathogenesis of malignant lymphoid proliferations.
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PMID:[Heavy chain diseases]. 850 62

We report the fine-needle aspiration (FNA) cytomorphologic features of six cases of primary mediastinal large-cell lymphoma with sclerosis. The series consisted of three men and three women with a median age of 36 yr. All the patients presented with a large anterior or superior mediastinal mass with no evidence of peripheral lymphadenopathy or hepatosplenomegaly. Two of the cases showed typical findings of lymphoma, characterized by hypercellular specimens with numerous individually scattered markedly atypical lymphoid cells present, demonstrating nuclear irregularity with the presence of nucleoli and surrounding scant to slight amount of cytoplasm. Numerous lymphoglandular bodies were seen in the background. Both cases were correctly diagnosed as representing non-Hodgkin's large-cell lymphomas. Two other cases had slight cellularity with the presence of a few scattered atypical lymphoid cells. Although a definite diagnosis was not rendered in either case, the possibility of malignant lymphoma was considered. Two other cases consisted predominantly of microtissue fragments with some associated scattered individual atypical cells. Within the microtissue fragments, the cells were distorted with a tendency to elongate and spindle in a prominent fibrous matrix. Our experience demonstrates that FNA cytology of primary mediastinal diffuse large cell lymphoma with sclerosis can be challenging, with a potential for a false-negative diagnosis due to limited cellularity secondary to the sclerosis or a misdiagnosis as a spindle cell neoplasm due to distortion of these cells by the fibrous matrix. To the best of our knowledge, we believe this is the first FNA series of primary mediastinal diffuse large cell lymphoma with sclerosis.
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PMID:Fine-needle aspiration cytology of primary large-cell lymphoma of the mediastinum: cytomorphologic findings with potential pitfalls in diagnosis. 851 16

Chronic active Epstein-Barr virus infection (CAEBV) is a nonfamilial syndrome that shows a specific immunodeficiency for the Epstein-Barr virus (EBV). Prolonged fever, hepatosplenomegaly, lymphadenopathy, and liver dysfunction were seen in CAEBV, but cardiac complications are rare. An autopsy case of CAEBV with giant coronary aneurysms and aortic aneurysms is reported. The patient was a 5-year-old Japanese girl. At autopsy, the heart weighed 110 g, and bilateral coronary aneurysms were found. Microscopic studies revealed lymphoid vasculitis of coronary arteries, coronary venules, and aortic arteries. Immunohistochemically, infiltrating small lymphocytes were positive for CD3, CD45RO(UCHL-1), CD43(DF-T1). The presence of EBV in most of these T lymphocytes was proven by in situ hybridization using an EBV-encoded RNA-1 (EBER1) probe. To the best of the author's knowledge, pathology of aneurysms caused by lymphoid vasculitis in CAEBV has not been reported until now.
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PMID:Chronic active Epstein-Barr virus infection with giant coronary aneurysms. 865 48

Farber's lipogranulomatosis is an inborn lipid storage disease characterized by tissue accumulation of ceramide due to deficient activity of lysosomal ceramidase. Symptoms include painful swelling of joints, subcutaneous nodules, a hoarse cry, hepatosplenomegaly and nervous system dysfunction of markedly variable degree. In most cases the neural dysfunction rather than the general dystrophy, seems to limit the duration of Farber disease. We examined whether the severity can be shown as a function of ceramide turnover by lysosomal ceramidase. The lysosomal degradation of sphingomyelin-derived ceramide was studied in situ in patient skin fibroblasts and lymphoid cells loaded with LDL-associated radioactive sphingomyelin. We could show for the first time a significant correlation between the ceramide accumulated in situ and the severity of Farber disease. Our method provides an alternative means for determining ceramide degradation by lysosomal ceramidase, but in intact cells. The relatively simple method is at least of the same diagnostic use for Farber disease as the in vitro assay of acid ceramidase using cell homogenates and may also have some prognostic use.
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PMID:Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells. 874 52

Hepatosplenic T gamma/delta lymphoma is a rare entity of peripheral T cell lymphoma. Three of 386 patients with non-Hodgkin's lymphoma in our institute were found to have this subtype of lymphoma. All had chromosomal abnormalities of isochromosome 7q and trisomy 8. The clinical and hematological features of these three patients are reported. All were males with ages ranging from 23 to 29 years. Initial presentation comprised purpura and variable degree of hepatosplenomegaly. None had superficial lymphadenopathy. Hematologically, they showed pictures resembling immune related thrombocytopenia and/or hemolytic anemia. Examination of the bone marrows revealed hypercellularity with increased number of megakaryocytes and erythroid cells and various degrees of abnormal lymphoid cell infiltration. The histopathologic section of the spleen from one patient who underwent splenectomy revealed abnormal cell infiltration in the sinusoids of the red pulp. Lymphoma cells showed T gamma/delta lymphoid immunophenotype (CD3+ CD2+ CD4- CD8-, TCR delta-1+, and beta F1-). The platelet counts were elevated transiently after initial treatment with corticosteroids, but the condition soon deteriorated. All died of refractory lymphoma five to nine months after diagnosis. Review of the literature, showed that only four other cases have been reported until now and although no cytogenetic data were available for these patients, they had very similar clinical pictures as those in this series. It is suggested that hepatosplenic T gamma/delta lymphoma represents a rare, but distinct, clinicopathological and cytogenetic entity.
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PMID:Clinical and hematological characteristics of hepatosplenic T gamma/delta lymphoma with isochromosome for long arm of chromosome 7. 888 63


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