Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 63 year-old woman was referred to our hospital because of fever and increased number of blasts in the bone marrow. On physical examination she had slight hepatomegaly but no splenomegaly. Laboratory tests disclosed a hemoglobin level of 8.5 g/dl; a WBC count of 13,200/microliter with 26% blasts; a platelet count of 51,000/microliter. A bone marrow aspirate was normocellular with 74% blasts and 37% blasts were stained positive for myeloperoxidase. Cell surface markers for HLA-DR, CD10, CD19, CD13, CD33 were positive. Karyotype analysis revealed 46, XX, t (9q+; 22q-) and 45XX, -7, t (9q+; 22q-). Southern analysis showed rearrangement of immunoglobulin heavy chain but not T cell receptor beta gene. Rearrangements in M-BCR were not detected with 5' or 3' bcr probes. After 2 courses of chemotherapy, blasts decreased to 7% with recovery of normal elements and 11 out of 20 metaphases of the bone marrow cells were normal karyotype. These findings suggest that this case was de novo Ph1 positive acute leukemia which demonstrated both lymphoid and myeloid features.
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PMID:[Biphenotypic acute leukemia with Ph1 chromosome, M-BCR-, myeloperoxidase+, and CALLA+]. 164 7

The injection of mature T cells into a tolerant or immunocompromised allogeneic host animal produces a graft versus host response (GVHR) that can result in splenomegaly, immunosuppression and death of the host animal. We demonstrate here that lymphocytes from T cell receptor beta-chain (TCR-beta) transgenic mice, in which the expression of the transgene inhibits endogenous beta- and gamma-gene rearrangements and thus causes abnormal T cell development, are unable to mediate a GVHR. The GVHR was measured after the injection of lymphocytes from transgenic mice into normal F1 mice and also after transplantation of bone marrow and lymphocytes from transgenic mice into lethally irradiated F1 recipients. In both systems, cells from transgenic mice failed to produce a significant GVHR. Cells from the transgenic mice were able to recognize the foreign histocompatibility Ag of the host in vitro and in vivo although the transgenic mice rejected skin grafts more slowly than controls. Thus, lymphocytes from transgenic mice were unable to produce a GVHR despite the presence of alloreactive T cells. These results suggest that lymphocytes from TCR-beta transgenic mice fail to mediate a GVHR either because lymphocytes with a single transgenic TCR-beta chain have a limited ability to recognize allogeneic cells in vivo or because the transgenic mice lack lymphocyte subsets that are important for the mediation of a GVHR.
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PMID:Alloreactive lymphocytes from T cell receptor (beta-chain) transgenic mice do not mediate a graft-versus-host reaction. 182 4

We report a case of a 61-year-old woman with large granular lymphocytosis associated with pulmonary tuberculosis. She was admitted to our hospital because of high fever, anemia and splenomegaly. On admission, the leukocyte count was 6,890/microliters with 52% of large granular lymphocytes. Immunophenotypical analysis of the increased cells showed following results; CD2+, CD3-, CD16+, CD57+. These cells had natural killer (NK) activity. Molecular genetical analysis showed these cells had germline configuration of the T cell receptor beta chain genes. About four months after admission, chest X-P revealed multiple mass shadow and the diagnosis of pulmonary tuberculosis was made by the examination of gastric juice. Anti-tuberculosis therapy was started, and soon after clinical symptom and pancytopenia were improved. For about one year, anti-tuberculosis therapy was continued, and now hematological abnormality is not found. We considered that this case was reactive large granular lymphocytosis of NK cells to lung tuberculosis.
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PMID:[Transient large granular lymphocytosis associated with pulmonary tuberculosis: a case report]. 207 32

We report two cases of Philadelphia (Ph1) chromosome positive acute mixed lineage leukemia (AMLL) with breakpoint cluster region (bcr) (M-BCR-1) rearrangement. A 31 year-old-man (case 1) and a 42 year-old-woman (case 2) were admitted to our hospital for further evaluation of leucocytosis with atypical blasts. Each case was diagnosed as having bilineal type of AMLL because: (1) blasts in each case consisted of larger myeloid cells positive for myeloperoxidase and small lymphoid cells positive for PAS, and blasts in case 2 were positive for TdT; (2) blasts in case 1 expressed B lymphoid associated antigen; (3) Southern analysis in each case showed clonal rearrangements of both the immunoglobulin heavy chain and the T cell receptor beta gene. These two cases demonstrated the Ph1 chromosome and rearrangement of the bcr (M-BCR-1) gene, but none of splenomegaly, basophilia, and additional chromosome abnormalities were observed. In addition, after achieving remissions, they didn't revert to chronic phase of chronic myelogenous leukemia (CML) and showed normal neutrophil alkaline phosphatase scores, and the Ph1 chromosome disappeared completely in case 1 and coexisted with the normal chromosome in case 2. These findings suggest that diagnosis of both cases should not be CML blast crisis (BC) but Ph1 positive acute leukemia, and Ph1 positive AMLL may be a distinct clinical entity to be distinguished from CML-BC.
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PMID:[Philadelphia chromosome positive acute mixed lineage leukemia with bcr (M-BCR-1) rearrangement]. 215 95

The T cell chronic leukemias encompass a broad spectrum of diseases involving mature post-thymic T cells. With the development of highly specific marker studies, clear patterns of immunophenotypic and functional characteristics of the involved cells have emerged. These studies, along with the development of molecular probes for the T cell receptor gene loci, have helped to elucidate the pathogenetic basis for the highly variable clinical course which has been described for patients with these disorders. The T gamma lymphocytosis syndrome has been identified as a benign chronic illness which is nevertheless usually a monoclonal neoplastic proliferation of large granular lymphocytes. These patients represent a distinct clinical entity characterized by splenomegaly, neutropenia, and peripheral blood lymphocytosis. The cells of TGLS are large granular lymphocytes and display many of the immunophenotypic and functional characteristics of NK and K cells. These cells have been implicated pathogenetically in the associated cytopenias seen in the illness, but a clear link has not been established. Although the lymphoproliferative manifestations of the disease are usually easily controlled with low-dose alkylating agents, therapy of the neutropenia has been relatively unsuccessful. Separating these patients from the rest of the spectrum of the T cell chronic leukemias has provided insight into the other disorders as well. It has established that T-CLL and T-PLL are, in fact, extremely rare. T-CLL is similar to its B cell counterpart, except that patients have a higher incidence of skin infiltration. Available data suggest that the prognosis in T-CLL is actually less variable, and somewhat worse, than generally believed when those patients were viewed in conjunction with the patients with the more benign TGLS. T-PLL is an extremely aggressive disease characterized by massive splenomegaly, lymphadenopathy, and skin infiltration. It is refractory to most forms of therapy. These illnesses are again phenotypically distinct from the retrovirus-associated ATLL. Most of the early cases of T-CLL reported from Japan were probably ATLL; this disease is characterized by pronounced splenomegaly, hepatomegaly, lymphadenopathy, and skin infiltration. It has an extremely aggressive natural history, and survival is usually less than 1 year from diagnosis. The rapid development of sophisticated immunologic and molecular techniques for analyzing T cell proliferations has allowed highly specific distinctions to be made among the cells of origin of the different T cell chronic leukemias. It is hoped that increased understanding of the immunologic and functional characteristics of these diverse T lymphoid populations will provide further insights which will have an impact on directed therapeutic interventions in the future.
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PMID:T gamma lymphocytosis and T cell chronic leukemias. 218 3

We reported a peculiar case with T cell leukemia. The patient was a 34-year-old woman showing extensive splenomegaly and marked leukemic cell proliferation and running a rapid fatal clinical course. The leukemic cells were morphologically ordinary lymphocytes showing suppressor/cytotoxic(s/c) T cell phenotypes and containing S-100b protein. Southern blot analysis revealed rearrangement of the beta chain genes of the T cell receptor (TcR) of the leukemic cells. Because these phenotypic and morphologic features were identical with those of S-100 beta+T lymphocytes (S-100 beta +TL) in normal human peripheral blood, we regarded this case as S-100 beta +T cell leukemia. We discussed clinicopathological features of S-100 beta +T cell leukemia/lymphoma by assessing similar cases reported so far. S-100 beta +T cell leukemia/lymphoma is a new type of s/c T lymphocytic leukemia/lymphoma with aggressive features.
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PMID:S-100 beta positive T cell leukemia. 289 28

Some patients with chronically elevated large granular lymphocyte (LGL) numbers have rheumatoid arthritis (RA). Since these patients also may have neutropenia and splenomegaly, their symptoms resemble those of patients diagnosed as having Felty's syndrome (FS). We studied the immunophenotypic and genotypic characteristics of mononuclear cells from patients with RA and neutropenia to better determine the extent of heterogeneity in this condition. Four patients had markedly increased numbers of LGLs, which expressed HNK-1 antigen and IgG Fc receptors. In contrast, the remaining 8 patients, who had FS, had normal LGL counts, and surface marker studies showed normal numbers of HNK-1 and IgG Fc receptor positive cells. Clonal rearrangement of the T cell receptor beta chain gene was demonstrated in all 4 patients with excess LGLs, whereas a germline configuration of this gene was present in all 6 FS patients in whom this was studied. These results suggest that there are diverse groups among patients with RA and neutropenia. Since prognosis may differ, it is important to recognize that some patients who are considered to have Felty's syndrome may have a clonal proliferation of LGLs.
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PMID:Clonal proliferation of large granular lymphocytes in rheumatoid arthritis. 334 30

Clinical and laboratory features of seven patients with acute leukemia associated with the (4;11) chromosome translocation are presented. Leukemic blasts of these patients showed lymphoid morphology in 6 (although 1 was treated for monoblastic leukemia 3 years earlier) and monocytoid morphology in 1, were positive for TdT and HD 37 (CD 19) in 6 patients, whereas weak expression of CALLA was seen in only 1 patient and T-lineage-associated antigens in none. Leukemic blasts from four patients showed the simultaneous expression of B-lymphoid and myeloid antigens, suggesting leukemogenesis in a very early multipotent progenitor cell. In 2 patients an isochromosome of the long arm of No. 7 chromosome was found in the leukemic karyotypes in addition to t (4; 11) (q 21; q 23); in one instance present at diagnosis, in the other one occurring at relapse. In one other patient leukemia karyotype also demonstrated trisomy 8. Leukemic cells of three patients were investigated by molecular genetics and demonstrated immunoglobulin gene rearrangements for the Ig heavy chain sequences but not for the light chain constant regions and T cell receptor sequences. All patients were treated by intensive chemotherapy. Four of the 7 patients are in continuous complete remission. The longest event-free survival time (over 2 1/2 years) was seen in one patient who had also DOWN-syndrome. Including these 7 patients a clinical analysis of 71 patients with t (4; 11) acute leukemia was made, emphasizing the following characteristics at diagnosis: female sex (62%), age under 2 years (49%), leukocyte count over 100 X 10(9)/1 (61%), splenomegaly (80%), CNS-disease (11%). Survival of over 2 years was reported in less than 15% of the patients. It remains to be seen if risk-adapted treatment can alter the course of this early B-precursor acute leukemia with hitherto very bad prognosis.
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PMID:Acute leukemia with chromosome translocation (4;11): 7 new patients and analysis of 71 cases. 349 35

Idiopathic portal hypertension (IPH), a disorder of unknown etiology, is characterized by a noncirrhotic portal hypertension associated with splenomegaly, hypersplenism, and anemia. We examined the surface phenotypes of T cells and the T cell receptor V beta repertoire in patients with IPH. The T cells in peripheral blood samples and from spleens showed a marked increase in frequencies of HLA-DP(+)- and HLA-DR(+)-activated T cells and the observed high frequencies in the blood were to a considerable extent reduced after splenectomy. Thus, the continuous activation of T cells may occur initially in the spleen. Investigation of T cell receptor V beta repertoire revealed a significant skewing of V beta 9 and V beta 11 in both peripheral blood and splenic T cells and V beta 12 in splenic T cells. The IPH may be a disease mediated by a continuous stimulation with either a certain antigen or more likely a superantigen.
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PMID:Abnormal T cell activation and skewed T cell receptor V beta repertoire usage in Japanese patients with idiopathic portal hypertension. 776 38

We reported that T cell receptor (TcR) gamma delta intestinal intraepithelial lymphocytes (i-IEL) of host origin increased transiently, then decreased drastically at the early stage of non-irradiated acute graft-versus-host disease (GVHD) in mice. We investigated the role of the TcR gamma delta i-IEL of host origin in the pathogenesis of the intestinal lesions that occur during acute GVHD. The acute GVHD was induced in mice which had been depleted of TcR gamma delta by in vivo administration of hamster monoclonal antibody (mAb) against TcR gamma delta. Although the degree of splenomegaly after the induction of acute GVHD in mice treated with anti-TcR gamma delta mAb was similar to that in control mice treated with hamster anti-2,4,6-trinitrophenyl mAb, infiltration of donor-derived T cells into the epithelium, and mitosis and apoptosis of crypt cells in the intestinal mucosa were dramatically suppressed in these mice. This suggest that host TcR gamma delta T cells in i-IEL contribute to the development of enteropathy in acute GVHD in mice.
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PMID:Host intestinal intraepithelial gamma delta T lymphocytes present during acute graft-versus-host disease in mice may contribute to the development of enteropathy. 784 57


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