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 32 year old Caucasian male presented with fever, massive hepatosplenomegaly and lymphadenopathy. Peripheral blood and bone marrow findings were consistent, both morphologically and immunophenotypically, with a natural killer cell leukemia/lymphoma. The disease was rapidly progressive and was fatal within five days after presentation.
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PMID:Aggressive natural killer cell leukemia/lymphoma. 964 96

A 54-year-old woman was admitted to Juntendo Izunagaoka Hospital on Aug. 29, 1998, after experiencing cough and fever for 19 days. Chest X-ray films disclosed infiltrates in the left lung field. The abnormal lung shadows progressed despite antibiotic therapy, and enlargement of superficial lymph nodes and hepatosplenomegaly developed. Peripheral blood examination disclosed cleaved lymphoid cells without granular cytoplasm. Anti-HTLV-I antibody titer was x320, and the monoclonal integration of HTLV-I provirus was confirmed by Southern blot analysis. Surface marker analysis of lymph node cells was positive for CD2, CD3, CD4, CD5, CD56, and HLA-DR. The above results yielded a diagnosis of adult T-cell leukemia. LSG-4 therapy alleviated the lung infiltrations and dyspnea. This case was considered unusual because of the expression of the natural killer cell marker CD56 on leukemic cells and the presentation of abnormal lung shadows possibly due to leukemic cell infiltration.
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PMID:[CD56-positive adult T-cell leukemia manifested by abnormal lung shadows]. 1069 96

Hepatosplenic gammadelta T-cell lymphoma is a distinct entity, characterized by occurrence in young adult males with hepatosplenomegaly, B-symptoms, peripheral blood cytopenias, and no lymphadenopathy; lymphomatous infiltrates in the splenic red pulp, hepatic sinusoids, and bone marrow sinuses; T-cell receptor (TCR) gammadelta chains and a cytotoxic T-cell phenotype; isochromosome 7q; and an aggressive clinical course. In comparison, this study describes the clinicopathologic features of 14 hepatosplenic T-cell lymphomas expressing TCR alphabeta chains. They occurred in 11 women and 3 men with a median age of 36 years. Clinical presentation was similar to that described previously for hepatosplenic gammadelta T-cell lymphomas, except for the female preponderance and age distribution (5 patients younger than 13 years of age and 5 patients older than 50 years of age). Disease distribution was primarily in the splenic red pulp and hepatic sinusoids, although liver infiltrates were largely periportal in four cases. Bone marrow involvement, observed in eight patients, was usually interstitial and/or within the sinuses. Lymph nodes were involved in five patients, although lymphadenopathy was demonstrable in only two. Ten cases were composed of intermediate-size tumor cells with round/oval nuclei, slightly dispersed chromatin, inconspicuous nucleoli, and scant to moderate amounts of cytoplasm. Four lymphomas contained primarily large cells with irregular nuclei, dispersed chromatin, discernible nucleoli, and moderate to abundant cytoplasm. Tumor cells in all 14 lymphomas were cytotoxic alphabeta T-cells; 13 co-expressed natural killer cell-associated antigens and showed T-cell clonality. Three lymphomas were associated with Epstein-Barr virus. Two of four cases had an isochromosome 7q. Eleven patients are dead, eight within a year of diagnosis, and two patients have maintained complete remissions after combination chemotherapy. These data show that hepatosplenic T-cell lymphomas include an alphabeta-subtype. This group, along with the previously recognized gammadelta group, should be recognized as phenotypically heterogeneous subtypes of the same disease entity.
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PMID:Hepatosplenic alphabeta T-cell lymphomas: a report of 14 cases and comparison with hepatosplenic gammadelta T-cell lymphomas. 1122 98

The frequency and clinicopathological significance of the expression of natural killer cell receptors (NKRs) in T-cell malignancies remain undefined. A 71-year-old man presented with leukocytosis, generalized lymphoadenopathy, and hepatosplenomegaly. Bone marrow and lymph node biopsies showed a T-cell lymphoproliferative disease expressing NKRs (CD2(+), CD3(+), CD4(+), CD5(+), CD7(+), CD8(-), CD56(-), CD94(+), CD158a(+), CD158b(+), CD161(-), p70(-), TCRalphabeta(1), TCRgammadelta(2), TIA-1(-)). An abnormal clone, 46,Y,add(X)(p14),der(1)t(1;6)(p33;p21),t(7;12)(p10;q10), was found on conventional karyotyping. Comparative genomic hybridization confirmed these findings, and showed a deletion of 12p that was not apparent on karyotyping. Clinically, the disease remained indolent and responded transiently to purine analogs but not to intensive chemotherapy. Peripheral T-cell lymphoproliferative disease of CD4(+)alphabeta(1)NKR(+) phenotype is hitherto undescribed. The issues of whether this case was derived from transformation of a rare T-cell subtype or represented aberrant T-cell expression of NK-cell antigens, and the clinicopathologic significance of these T-cell neoplasms warrant further studies.
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PMID:Chronic T-cell lymphoproliferative disease expressing natural killer cell receptors: clinicopathological and molecular features. 1156 50

Hypersensitivity to mosquito bites or mosquito allergy is a mysterious disorder that has been reported mainly in Japanese patients (at least 58 patients) in the first two decades of life. The skin lesion at bite sites is typically a bulla that develops into necrosis. Patients simultaneously exhibit a high temperature and general malaise and subsequently may experience lymphadenopathy and hepatosplenomegaly. Recent studies have revealed that this mosquito hypersensitivity is associated with chronic Epstein-Barr virus infection and natural killer cell leukemia/lymphoma. The natural killer cell, infected with monoclonal (or oligoclonal) Epstein-Barr virus, seems to be involved in the pathogenesis of the hypersensitivity. Half of the patients reported died of hemophagocytic syndrome (or malignant histiocytosis), granular lymphocyte proliferative disorder, or lymphomas. We propose that this disease, defined as the triad of hypersensitivity to mosquito bites, chronic Epstein-Barr virus infection, and natural killer cell leukemia/lymphoma, is a clinical entity mostly seen in Asians.
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PMID:Hypersensitivity to mosquito bites as the primary clinical manifestation of a juvenile type of Epstein-Barr virus-associated natural killer cell leukemia/lymphoma. 1156 49

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

Myeloid/natural killer (NK) cell precursor acute leukemia is characterized by coexpression of myeloid and natural killer cell antigens and an aggressive clinical course. Here we report a case of myeloid/NK precursor acute leukemia in a 37-year-old woman. Clinical presentation was correlated with leukemic blast morphology, immunophenotype, and cytogenetic analysis. The patient had noted fever, weakness, purpura, peripheral lymphadenopathy, and moderate hepatosplenomegaly. Peripheral blood smears and bone marrow aspirate smears at presentation revealed blastic cells, which were generally L2 shaped, with variation in cell size, round to moderately irregular nuclei and prominent nucleoli, pale cytoplasm, and a lack of azurophilic granules. Immunophenotypic analysis of the blasts displayed coexpression of myeloid and natural killer cell antigens with relatively immature phenotype: CD7+, CD33+, CD34+, CD56+, CD57+, CD16-, MPO-. Cytogenetic analysis of marrow cells showed 62% of cells with a normal female karyotype; in the remaining 38%, tetraploid changes were detected, where the chromosome number was 92, with no preferential losses or gains of chromosomes. Fluorescence in situ hybridization analysis revealed the same abnormality. The patient did not respond to chemotherapy (cytosine arabinoside and idarubicin) and died of a septic complication on the 34th day after admission. To our knowledge, this is the first description of tetraploidy in myeloid/NK cell precursor acute leukemia.
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PMID:Myeloid/natural killer cell precursor acute leukemia with tetraploidy. 1633 59

We report a 58-year-old man who presented with fever, pancytopenia, hepatosplenomegaly, and "sinusitis" of his right nostril. Flow cytometric analysis of his bone marrow aspirate revealed a population of cells that were CD56+ (bright), CD2+ (dim), and CD7+ (slight brightly) but negative for CD3, CD4, CD5, CD8, CD11b, CD16, CD57, and T-cell receptors, consistent with aberrant natural killer cells. Bone marrow biopsy showed an atypical lymphoid infiltrate expressing CD56 as well as Epstein-Barr virus- encoded RNA and histiocytic hyperplasia with hemophagocytosis. Subsequent biopsy of his right nasal vestibule demonstrated an atypical lymphoid infiltrate, which was cytoplasmic CD3+, CD56+, and Epstein-Barr virus-encoded RNA positive, consistent with an extranodal nasal natural killer cell lymphoma. Conventional cytogenetic studies of the bone marrow revealed isochromosome 7q10 [i(7)(q10)] as the sole chromosomal aberration. To our knowledge, this is the first report demonstrating i(7)(q10) as a primary cytogenetic abnormality in an extranodal nasal natural killer cell lymphoma.
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PMID:An extranodal nasal natural killer/T-cell lymphoma with isochromosome 7q10 as the sole cytogenetic aberration was initially diagnosed via bone marrow biopsy. 1797 91

Asparaginyl endopeptidase (AEP or legumain) is a lysosomal cysteine protease that cleaves protein substrates on the C-terminal side of asparagine. AEP plays a pivotal role in the endosome/lysosomal degradation system and is implicated in antigen processing. The processing of the lysosomal proteases cathepsins in kidney is completely defective in AEP-deficient mice with accumulation of macromolecules in the lysosomes, which is typically seen in lysosomal disorders. Here we show that mutant mice lacking AEP develop fever, cytopenia, hepatosplenomegaly, and hemophagocytosis, which are primary pathological manifestations of hemophagocytic syndrome/hemophagocytic lymphohistiocytosis (HLH). Moreover, AEP deficiency provokes extramedullary hematopoiesis in the spleen and abnormally enlarged histiocytes with ingested red blood cells (RBCs) in bone marrow. Interestingly, RBCs from AEP-null mice are defective in plasma membrane components. Further, AEP-null mice display lower natural killer cell activity, but none of the major cytokines is substantially abnormal. These results indicate that AEP might be a previously unrecognized component in HLH pathophysiology.
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PMID:Mice lacking asparaginyl endopeptidase develop disorders resembling hemophagocytic syndrome. 1910 91

We have reviewed clinically, morphologically, and immunophenotypically a series of 14 Epstein-Bar virus (EBV)+ cutaneous natural killer cell (NK)/T-cell lymphoma from Peru. Most (11 out of 14) of these cases fit well into the category of Hydroa vacciniforme-like lymphoma (HVLL), but 3 have a different clinical presentation, without facial involvement. In all 14 cases, skin lesions present in both the sun-exposed and nonexposed areas exhibited a slowly progressive relapsing course, changing from edema, to blistering, ulceration, and final scarring. The immunophenotype had a cytotoxic T or NK-cell lineage. The mean time of disease before admission to hospital was 69 months (range, 6 mo to 31 y). Only 2 patients had fever, hepatosplenomegaly, systemic lymphadenopathy, and a high lactate dehydrodenage (LDH) level at the time of diagnosis, whereas 10 had facial swelling. After treatment, only 4 patients remain alive, although with persistent disease. Ten patients died after a mean follow-up of 11.6 months after the initial diagnosis (range, 1 to 32 mo), because of concurrent infections (4 cases), disease progression (4 patients) or both (2 patients). Endemic Epstein-Bar virus (EBV)-positive cutaneous NK/T-cell lymphoproliferative disorders in childhood and early adulthood are characterized by a protracted clinical course, eventually leading to an aggressive phase characterized by concurrent infections and disease progression.
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PMID:EBV-associated cutaneous NK/T-cell lymphoma: review of a series of 14 cases from peru in children and young adults. 2110 82


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