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)

Chronic lymphocytic leukaemia (CLL) is the most common form of adult leukaemia in Western countries. The diagnosis requires mature-appearing lymphocytes in the peripheral blood to >5 x 10(9)/L. The immunophenotype typically includes B cell antigens CD19, CD20 and CD23, low expression of surface immunoglobulin and CD5+, with other T cell antigens absent. Bone marrow biopsy, although not required for diagnosis, must show at least 30% lymphocytes. Cytogenetic abnormalities are frequent in patients with CLL, and may be associated with poor prognosis. Clinically, most patients are asymptomatic at presentation, with incidental lymphadenopathy and/or hepatosplenomegaly in the routine physical examination. Infections by opportunistic pathogens are the major cause of death. Aggressive transformation occurs in 10% of patients with CLL, most commonly prolymphocytic leukaemia (PLL) and Richter's syndrome. PLL de novo must be differentiated from PLL of an aggressive transformation. The incidences of autoimmune diseases and solid or haemopoietic secondary malignancies are increased in patients with CLL. Clinical stage is the strongest prognostic factor in CLL. There is no indication for early intervention. The current recommendation to start treatment includes disease-related symptoms, massive and/or progressive hepatosplenomegaly or lymphadenopathy, increasing bone marrow failure, autoimmune disease, and recurrent infections. Alkylating agents (e.g. chlorambucil) and nucleoside analogues (e.g. fludarabine) are the most active agents for CLL. Fludarabine induces higher response rates, but no improvement in overall survival has been observed. Fludarabine is the drug of choice for the majority of patients with CLL. Chlorambucil may be helpful for elderly patients with poor performance, and for patients who do not tolerate fludarabine. No drug combination is better than single agents. For patients refractory to initial treatment, referral to a clinical trial is the best choice. Other salvage therapy includes retreatment with the same initial agent (chlorambucil or fludarabine) if initial response was observed, or fludarabine for patients refractory to chlorambucil. Promising new approaches include cycle-active agents, nelarabine, biological therapy such as anti-CD52 monoclonal antibody, bone marrow transplantation, including the use of submyeloablative preparative regimens ('minitransplant') to induce graft-versus-leukaemia effect, and gene therapy. Prophylactic antibacterials and intravenous immunoglobulin should not be used routinely during supportive care. Epoetin may be helpful for patients who have anaemia without obvious cause. Assessment of response to therapy in CLL has been updated by the National Cancer Institute Working Group, and these guidelines are used worldwide for clinical trials.
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PMID:Management of chronic lymphocytic leukaemia. 1073 61

Diffuse large B-cell lymphoma with haemophagocytic syndrome (BCL-HS) has been reported mainly in Asia and is regarded as a distinct variant of intravascular lymphoma (IVL). However, it is unclear whether all cases of BCL-HS fall within the framework of IVL and available clinical information is limited. We analysed 25 cases with BCL-HS, including 11 autopsied cases (median, 66 years; male-female ratio, 1.1:1). The patients presented with fever, anaemia, thrombocytopenia, hepatosplenomegaly, haemophagocytosis, bone marrow invasion, respiratory disturbance and disseminated intravascular coagulopathy, but usually lacked lymphadenopathy, mass formation, neurological abnormalities and skin lesions. The clinical course was aggressive with a median survival of 7 months. The morphological findings were uniform: large lymphoid cells infiltrated vessels and/or sinusoids of the liver, marrow, lung, kidney and other organs. They were positive for CD19, CD20, CD79a and HLA-DR, but negative for CD10, CD23 and CD30. CD5 was positive in five out of 17 cases. Our critical review indicates that BCL-HS is the equivalent of the Asian variant of IVL.
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PMID:An Asian variant of intravascular large B-cell lymphoma: clinical, pathological and cytogenetic approaches to diffuse large B-cell lymphoma associated with haemophagocytic syndrome. 1112 44

A 77-year-old woman was referred to our hospital because of leukocytosis and leukoblastosis in September 1999. She was healthy except for hypertension, and no abnormal findings in the peripheral blood had been observed up to December 1998. Physical examination revealed neither hepatosplenomegaly nor superficial lymphadenopathy. A bone marrow film showed massive proliferation of blast cells (87.8%), some of which contained coarse basophilic granules (38.6%). The cells were negative for peroxidase and esterase (alpha-naphtyl butyrate and ASD-chloroacetate) staining, but the granules showed metachromasia upon toluidine blue staining. As immunophenotypic analysis of the cells showed double positive for CD13/CD19 but negativity for CD33, this case did not meet the diagnostic criteria for biphenotypic acute leukemia. Chromosome and gene analysis showed positivity for the Ph1 chromosome with minor bcr/abl chimeric mRNA. A homogenate of the peripheral mononuclear cells demonstrated a high concentration of histamine. Electron microscopy analysis confirmed that some of the blast cells contained dense granules, which closely resembled "immature basophil granules" morphologically. These results suggested that the blast cells showed basophilic differentiation. As the clinical course and peripheral blood findings were different from blastic crisis of chronic myelogenous leukemia (CML) and CML with minor bcr/abl chimeric mRNA, the present case was diagnosed as "multiphenotypic acute leukemia", a type of acute basophilic leukemia classified by Duchayne.
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PMID:[Basophilic differentiation of leukemic cells in a patient with acute leukemia carrying minor bcr/abl chimeric mRNA]. 1152 47

We report a case of acute lymphoblastic leukemia (ALL) presenting as severe jaundice. The patient, a 59-year-old man, was found to have abnormal liver function, including an elevated total bilirubin level (13.5 mg/dl) with hepatosplenomegaly, but no detectable lymphadenopathy. A liver biopsy and bone marrow examination revealed a lymphoid neoplasm. Pathologic features included invasion of an abnormal clone into the sinusoidal region of the liver, diffuse bone marrow involvement (41.6% of all nucleated cells) and splenomegaly. Small numbers of malignant cells were also detected in the peripheral blood. B-cell markers, such as terminal deoxynucleotidyl transferase (TdT), CD10, CD19, CD20 and HLA-DR were positive, and CD2, CD3, CD4, CD5, CD7, CD8, kappa, lambda, cytoplasmic mu and myeloperoxidase were negative. Cytogenetic analysis detected hyperdiploidy. In this case, a dose-attenuated CHOP regimen attained complete remission. To date, preferential infiltration to liver sinusoids has been noted in hepatosplenic gamma/delta T-cell lymphoma, other NK/T-cell malignancies, and some cases of hairy cell leukemia. Severe jaundice due to preferential infiltration of leukemic cells into liver sinusoids is rather uncommon as a presenting feature of ALL.
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PMID:[Preferential infiltration of liver sinusoids in acute lymphoblastic leukemia]. 1182 21

Myelofibrosis following peripheral T-cell lymphoma has rarely been reported. Described here is a case of peripheral T-cell lymphoma with myelofibrosis and elevated transforming growth factor beta (TGF-beta). A 69 years old male was admitted due to anemia and thrombocytopenia. His bone marrow showed fibrosis and was infiltrated with small lymphoid cells and a few residual normal hematopoietic cells. He had presented with hepatosplenomegaly and left inguinal lymph node swelling. Biopsy of the left inguinal lymph node revealed diffuse mature small lymphoid cells with atypical nuclei. Immunophenotyping of the small lymphoid cells were positive for CD3, CD8, TCR alphabeta and HLA-DR and were negative for CD4, CD19, CD20 and CD56. T-cell receptor beta-chain gene was rearranged in bone marrow cells. He was diagnosed as having peripheral T-cell lymphoma complicated with myelofibrosis. Chemotherapy was administrated which improved his pancytopenia and symptoms. Two years later, anemia and thrombocytopenia developed rather quickly, he died because of progression of myelofibrosis with severe pancytopenia.
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PMID:Peripheral T-cell lymphoma presenting with rapidly progressing myelofibrosis. 1268 59

Pathological features and genomic basis of a rare case of ALK(+), CD30(-), CD20(-) large B-cell lymphoma were analyzed. A 36-year-old Japanese female was admitted because of lumbago and constitutional symptoms. Physical examination and laboratory tests showed anemia (hemoglobin, 7.5 g/dL), mild hepatosplenomegaly, and immunoglobin G (IgG) lambda-type monoclonal gammopathy (IgG, 2782 mg/dL). The lymphoma spread exclusively in extranodal sites such as bone marrow, liver, spleen, ovary, and muscle. Biopsy specimens obtained from the ovary showed monomorphic proliferation of large immunoblastic cells with basophilic cytoplasm, round-shaped nuclei with a high nuclear to cytoplasmic ratio, and prominent single nucleolus. Immunostaining with anti-anaplastic lymphoma kinase (ALK) antibody, ALK1, showed finely granular cytoplasmic staining pattern. These cells were also positive for epithelial membrane antigen, CD4, CD19, CD38, CD138, cytoplasmic IgG, and lambda chain, but negative for CD30 (Ber-H2), CD56, CD57, and other T- and B-cell markers. Southern blot analyses revealed that Ig heavy and lambda light chain genes, but not T-cell receptor (TCR) beta gene, were clonally rearranged. Chromosomal analyses by conventional G-banding, spectral karyotyping, and fluorescence in situ hybridization showed complex abnormality involving 2p23, and chromosome 2 was translocated to chromosome 17. As 2;17 translocation resulting in the fusion of clathrin heavy chain (CLTC) gene with ALK was previously reported in inflammatory myofibroblastic tumor, we performed reverse transcriptase-polymerase chain reaction and demonstrated that the lymphoma cells contained CLTC-ALK fusion transcript. Under the diagnosis of ALK(+), CD30(-), CD20(-) large B-cell lymphoma, she was treated with conventional combination chemotherapies. However, the lymphoma was primarily chemotherapy resistant, and the patient died 11 months after admission. We consider that this case confirms the existence of ALK(+), CD30(-), CD20(-) large B-cell lymphomas proposed by Delsol et al. (16) and further provides relevant information regarding their clinicopathological features and cytogenetics.
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PMID:ALK+, CD30-, CD20- large B-cell lymphoma containing anaplastic lymphoma kinase (ALK) fused to clathrin heavy chain gene (CLTC). 1292 Feb 29

A 59-year-old male with lymphocytosis and thrombocytopenia was asymptomatic without lymphadenopathy or hepatosplenomegaly over 10 years. He was admitted to our hospital because his thrombocytopenia had worsened. The clonal lymphocytes appeared as regular small mature lymphocytes on blood films, and bone marrow biopsy showed diffuse infiltration of mature lymphocytes. However, megakaryocytes also presented. The immunophenotypic analysis by flow cytometry revealed that the lymphocytes were positive for CD19, CD20, CD22, and surface membrane immunoglobulin (SmIg) M and D-lambda and were negative for CD5, CD10, CD11c, CD23, and other lineage markers. Expression levels of CD20 and SmIg were strong. The markers were consistent with CD5- CLL with autoimmune thrombocytopenia. He received rituximab, and a rapid decrease of lymphocytes with concomitant increase of platelets was observed. A few cases of CD5- CLL with a stable clinical course have been reported, thought to be B lymphocytosis of undetermined significance (MLUS). This is the first report of CD5- CLL with indolent clinical course associated with autoimmune thrombocytopenia, successfully treated with rituximab.
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PMID:CD5-negative chronic lymphocytic leukemia with indolent clinical course and autoimmune thrombocytopenia, successfully treated with rituximab. 1555 7

The authors present the clinical profile of a 6-year-old girl with an unusual immunophenotype of acute lymphoblastic leukemia (ALL). At the initial presentation, massive hepatosplenomegaly developed. The leukemic cells were myeloperoxidase-negative and morphologically lymphoblastic. These cells were positive for B-precursor-cell (CD10, CD19) antigens and natural killer cells (CD56, CD57). Rearrangements of both immunoglobulin heavy chain alleles and monoallelic rearrangement of T-cell receptors (TCRs)-beta and -delta genes, but not that of TCR-gamma gene, were detected, suggesting that these cells being of B-precursor origin. The patient received chemotherapy for extremely high-risk ALL with a good response. To the authors' knowledge, this is the first pediatric case describing coexpression of CD56 and CD57 on B-lineage ALL.
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PMID:Acute lymphoblastic leukemia with coexpression of CD56 and CD57: case report. 1562 24

We report an instructive case of diffuse large B-cell lymphoma presenting as acute heart failure. A 69-year-old human immunodeficiency virus-negative man was admitted to our hospital for general fatigue. A computed tomographic scan of the chest and abdomen showed pericardial effusion, but there was no evidence of tumor masses, lymph node enlargement, or hepatosplenomegaly. During the chemotherapy, increased lactate dehydrogenase and pleural effusion appeared. The tumor cells in the effusion showed positivity for CD5, CD19, CD20, kappa chain, and Bcl-2 and negativity for CD10 and CD23. The chromosomes showed t(8;14)(q24;q32) with c-myc/immunoglobulin (Ig)H rearrangement, and the MIB-1 index was not high (60%). Neither human herpes virus 8 nor Epstein-Barr virus DNA was detected in the cells by polymerase chain reaction. The response to chemotherapy was very poor, and the patient died 4 months after the diagnosis. A spectrum of the symptoms of CD5+ lymphoma encompasses pericardial effusion and also can accompany c-myc/IgH rearrangement.
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PMID:CD5+ diffuse large B-cell lymphoma with c-myc/IgH rearrangement presenting as primary effusion lymphoma. 1591 62

Natural killer (NK) cell neoplasms are a group of rare but highly malignant tumors. We report here one case of NK cell leukemia. A 54-yr-old woman presented with a 2-month history of progressive left neck mass. Based on the positive result of tissue PCR for Mycobacterium tuberculosis, she was at first diagnosed with tuberculous lymphadenopathy. After two weeks, she developed generalized lymphadenopathy, hepatosplenomegaly, fever and anemia. Subsequent evaluation was performed including bone marrow aspiration and biopsy. Peripheral blood smear showed leukoerythroblastic features with 31% blasts. Bone marrow was packed with agranular blastoid cells, which were periodic acid-Schiff (PAS) positive and myeloperoxidase (MPO) negative. Immunophenotyping showed that these cells were positive for CD45 and HLA-DR, whereas negative for CD3, CD5, CD7, CD10, CD13, CD14, CD19, CD20, CD22, CD33, CD34, and CD61. Because of the absence of the markers of T-cell, B-cell, and myeloid lineage-specific antigens, we added CD16/56 for the immunophenotyping and the blasts were positive (94%). The tumor cells of biopsied lymph node were only positive for CD56, consistent with NK cell lymphoma. Epstein-Barr virus (EBV) was not detected by RNA in situ hybridization. Culture for M. tuberculosis was negative. Thus this patient was diagnosed with blastic NK cell lymphoma/leukemia involving bone marrow and lymph node.
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PMID:A case of natural killer cell leukemia misdiagnosed as tuberculous lymphadenopathy. 1957 15


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