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)

A 79-year-old Japanese man was admitted to our hospital with dyspnea in June 1999. Physical examination revealed general exanthema, hepatosplenomegaly, and lymphadenopathy. Increased numbers of abnormal cells were observed in peripheral blood; these cells were of lymphoblastic morphology with high nuclear/cytoplasm ratios and few azurophilic granules. Immunophenotypic analysis revealed positivity for CD2, CD4, CD56, and HLA-DR, and negativity for CD3, CD13, CD16, CD33, CD34, and T cell receptor (TCR). On genotypic analysis, TCRgamma chain was rearranged, but neither the TCRbeta chain nor TCRdelta chain. Despite an initial good response to chemotherapy the disease relapsed in the early stage, and the patient died 6 months after diagnosis.
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PMID:Blastic NK-cell lymphoma/leukemia with T-cell receptor gamma rearrangement. 1179 18

Gamma/delta T-cell lymphoma is a rare neoplasm that is not well characterized and is associated with a poor prognosis. We report a case of gamma/delta peripheral T-cell lymphoma that appeared as a breast lump in a 35-yr-old woman. The patient was examined for a 2-mo history of a right-sided breast mass with associated hepatosplenomegaly 2 yr in duration. A fine-needle aspiration biopsy (FNAB) was performed, and the diagnosis of lymphoma was rendered. The patient received two cycles of CHOP and is alive with persistent disease. FNAB showed evidence of polymorphous lymphoma, consisting of medium-size to large cells with immature chromatin. Flow cytometric immunophenotyping showed expression of CD2, CD3, and CD7 with lack of expression of CD1a, CD4, CD5, CD8, and CD56. Flow cytometry also showed predominant expression of the gamma/delta T-cell receptor. Cytogenetic analysis showed 48XX+i7(q11.2),+7(3). Our case indicates that gamma/delta peripheral T-cell lymphoma can be diagnosed by FNAB. This rare entity requires further investigation.
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PMID:gamma/delta peripheral T-cell lymphoma of the breast diagnosed by fine-needle aspiration biopsy. 1189 23

We describe a 17-year-old woman with chronic active Epstein-Barr virus infection (CAEBV), who developed EBV+CD4-CD8- T-cell polymyositis. At 14 years of age, CAEBV was diagnosed with fever, cytopenia, liver dysfunction, and hepatosplenomegaly. Despite the transient remission of interferon-alpha therapy, migratory lesions emerged in back and extremities. MRI indicated polymyositis. Biopsy specimens revealed intramuscular infiltration of CD3+, CD4-, CD8-, CD56-, and EBV-encoded RNA 1+ cells. Circulating CD4-CD8-Vdelta2/Vgamma9 cells increased. gammadeltaT-cells contained 20-200 times higher EBV-DNA (2 x 10(4) copies/microgDNA) than alphabetaT-cells or NK-cells. The ominous polymyositis might denote the musculotropic invasion of EBV+gammadeltaT-cell lymphoproliferative disease as a consequence of CAEBV.
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PMID:CD4-CD8- T-cell polymyositis in a patient with chronic active Epstein-Barr virus infection. 1241 May 78

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

Hepatosplenic T cell lymphoma is defined as an extranodal and systemic neoplasm derived from cytotoxic T cells. This report describes a postmortem case of T cell lymphoma that showed histological features of hepatosplenic T cell lymphoma but did not express cytotoxic molecules. The patient was a 57 year old man who presented with severe icterus and hepatosplenomegaly, followed by an aggressive clinical course. The liver and spleen were enlarged, weighing 2000 g and 360 g, respectively. Histologically, the liver, spleen, and bone marrow were entirely affected by lymphoma, comprising pleomorphic small and large cells, which displayed sinusoidal infiltration in the liver, diffuse infiltration in the splenic cord, and interstitial/diffuse infiltration with fibrosis in the bone marrow. Lymphoma cells showed positivity for CD3 epsilon, CD8, and CD45RO and clonal rearrangement of the TCRgamma gene by the polymerase chain reaction on paraffin wax embedded sections. However, they were negative for TIA-1 and granzyme B, in addition to betaF1, CD4, and CD56. Few neoplastic cells were stained for Epstein-Barr virus encoded mRNA 1. These findings indicate that this case might represent a variant of hepatosplenic T cell lymphoma despite the absence of cytotoxic molecules.
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PMID:Hepatosplenic T cell lymphoma with no expression of cytotoxic molecules. 1289 Aug 21

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

Type 2 dendritic cell (DC2) acute leukemia has been recently described. We report here an unusual case of a 17-yr-old adolescent with overlapping features of DC2 and myeloid/NK cell precursor acute leukemia as defined by Suzuki et al. The patient presented with lymphadenopathy and hepatosplenomegaly without extranodal manifestations in skin or elsewhere. The morphologic, cytochemical and immunophenotypic features were compatible with those described in DC2 acute leukemia, with co-expression of CD4, CD56 and CD123 antigens. The novel markers BDCA-4 and BDCA-2 considered specific for DC2s were co-expressed. However, bright CD7 positivity along with a dim expression of CD33 (57%) and CD117 (27%) were also noted. Additionally, there was bright expression of NG2 monoclonal antibody 7.1, a frequent finding in myeloid/NK cell precursor acute leukemia. The interpretation of the immunophenotypic profile leads to the hypothesis on the existence of borderline cases between DC2 and myeloid/NK cell precursor acute leukemia. Still, other hypotheses can not be overlooked, such as the possibility for a kind of variant monoblastic leukemia or of another rare entity of acute unclassified leukemia.
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PMID:An unusual case of CD4+ CD7+ CD56+ acute leukemia with overlapping features of type 2 dendritic cell (DC2) and myeloid/NK cell precursor acute leukemia. 1295 Feb 40

Peripheral T-cell lymphoma (PTCL) is a group of diseases which are common in Asia and areas of South and Central America. They are highly associated with the Epstein-Barr virus (EBV) infection. In the present study the authors evaluated patients with gastrointestinal involvement of PTCL with respect to clinical findings and outcome, pathologic features, and molecular analysis for EBV infection and the clonality of tumor cells. From January 1997 through December 2000, 7 patients with gastrointestinal tract involvement of PTCL were identified. The frequency of gastrointestinal tract involvement in the various types of PTCL was 5.4 per cent (7 of 129 cases). The pertinent clinical features were prolonged fever, weight loss, anemia, hepatosplenomegaly, lymphadenopathy, multiorgan involvement, and gastrointestinal bleeding. Laboratory results showed a significantly high serum level of alkaline phosphatase and lactate dehydrogenase, and abnormal coagulograms. Five patients died within 4 months after onset of illness, while two were in complete remission after chemotherapy. The tumor cell morphology was classified into three categories: small-sized cells, mixed medium- and large-sized cells, and large-sized cells. The antigenic phenotypes of the tumor cells were LCA+, CD3+, CD15-, CD16-, CD30-, CD45R0+, CD57-, CD68-, EMA-, betaF1-, granzyme B+, TIA-1+, and p53+. The expression of CD4, CD8, CD56 and CD20 was variable. EBV-RNA expression by in situ hybridization (EBER-ISH) study was positive and T-cell receptor (TCR) beta and/or gamma gene rearrangements were detected in all patients. DNA sequence analysis showed high identity to the human TCR germline gene. PTCL with gastrointestinal tract involvement was associated with EBV infection. The tumor cells were mature T cells with some NK-cell antigenic expression and all demonstrated TCR gene rearrangements.
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PMID:Epstein-Barr virus-associated peripheral T-cell lymphoma with gastrointestinal tract involvement. 1464 66

The prognostic significance of immunophenotypical properties of leukaemic cells is well known. However, the biological and clinical significance of CD7 and CD56 antigen expression in acute leukaemias are not clearly established. In patients with acute leukaemias, we identified CD7 and CD56 expression and analysed their associations with markers expressed early in haemopoietic ontogeny and clinical parameters. Among 22 patients with acute leukaemia [12 acute myeloblastic leukaemia (AML), 10 acute lymphoblastic leukaemia (ALL)], we found CD7 positivity in 15 of 22 patients (68%) and CD56 positivity in four patients (18%). CD7 positivity was observed in seven patients (58%) with AML and in eight patients (80%) with ALL. CD56 positivity was observed in three patients (25%) with AML and one patient (10%) with ALL. Lymphadenopathy was present in five patients and associated with hepatosplenomegaly in three patients with ALL. Splenomegaly and hepatomegaly were present in three patients with AML. Central nervous system involvement was seen in one patient with ALL. Complete remission was achieved in nine patients (41%) (five ALL and four AML). Our data showed that CD7 and CD56 positivity at diagnosis associated with low remission rate and biological aggressiveness in a significant proportion of patients. We suggest the evaluation of CD7 and CD56 in all patients with acute leukaemias at the time of diagnosis in view of poor clinical outcome.
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PMID:The importance of CD7 and CD56 antigens in acute leukaemias. 1505 63

Two cases of CD56+CD33+ leukemia/lymphoma are reported. The patient in case 1 presented with skin rash, diffuse lymphadenopathy, and hepatosplenomegaly. Blasts with monocytoid and lymphoid features were present in the peripheral blood. The tumor cells expressed HLA-DR, CD4, CD33, CD38, and CD56. Cytogenetic analysis revealed del(2)(p13),del(9)(q22),add(6)(q25),add(12)(p12),-13,-18, and -20. The clinicopathologic features were similar to those of blastic natural killer cell leukemia/lymphoma or type 2 dentritic cell leukemia. The patient in case 2 presented with generalized weakness and skin erythema not responding to antibiotics. Circulating blasts with monocytoid features were seen in the peripheral blood. The tumor cells expressed CD7, CD13, CD33, CD38, and CD56, and cytogenetic analysis revealed -5,add(7)(p22),-8, del(10)(p11.2),-12,der(13; 14)(p10;p10),+14,-16,-18,-19, and del(20)(q13.1). The clinicopathologic features were consistent with a myeloid/ natural killer cell precursor acute leukemia. Both disorders are aggressive hematopoietic malignancies that have similar clinical presentation and morphology but differ in immunophenotype and cytogenetic features.
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PMID:Challenge in diagnosis of CD56+ lymphoproliferative disorders: two cases of CD56+CD33+ lymphoma/leukemia. 1527 May 96


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