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

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.
 ...
PMID:Chronic T-cell lymphoproliferative disease expressing natural killer cell receptors: clinicopathological and molecular features. 1156 50

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.
 ...
PMID:[Preferential infiltration of liver sinusoids in acute lymphoblastic leukemia]. 1182 21

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.
 ...
PMID:gamma/delta peripheral T-cell lymphoma of the breast diagnosed by fine-needle aspiration biopsy. 1189 23

We report here a case of mantle cell lymphoma (MCL) in a patient who, following Epstein-Barr virus (EBV) infection, developed diffuse large B-cell lymphoma (DLBCL). A 47-year-old woman was diagnosed as having MCL with clinical stage IIIA in July 1990. After treatment with a third-generation chemotherapy without response, she was kept under observation for 8 years. In January 1999, fever and night sweats appeared with laboratory evidence for EBV infection, and acute swelling of lymph nodes and hepatosplenomegaly developed in May 1999. Histopathological examination confirmed the diagnosis of DLBCL. Sequence analysis of the complementarity-determining region (CDR)-III of the immunoglobulin heavy chain gene demonstrated clonal identity between the initial MCL and the subsequent DLBCL. Immunohistochemistry revealed that cyclin D1, CD5, and CD20 were expressed in the MCL but lost in the DLBCL cells, and EBER-ISH confirmed that EBV infection was absent in the former but present in the latter. Southern hybridization with the EBV terminal repeat probe showed a clear monoclonal pattern in the DLBCL specimen. All these results suggest that EBV infection may have been the molecular event that caused transformation of MCL cell(s) to DLBCL in this case. This is, to the best of our knowledge, the first well-documented case of EBV-associated transformation of MCL.
 ...
PMID:Case of Epstein-Barr virus-associated transformation of mantle cell lymphoma. 1282 58

We report a case of diffuse follicular center lymphoma (FCL), which is a morphological variant of follicular lymphoma, resembling multiple lymphomatous polyposis (mantle cell lymphoma of the intestine). The patient was a 48-year-old Japanese man who was found, by colonoscopy, to have numerous small polypoid lesions along the entire large intestine. Abdominal computed tomography revealed hepatosplenomegaly and enlargement of multiple mesenteric lymph nodes. Histologically, the lesion was characterized by diffuse proliferation of small- to medium-sized lymphocytes with cleaved nuclei in the mucosa and submucosa. Immunohistochemical studies showed that the tumor cells were CD20+, CD10+, BCL-2+, CD5-, surface IgM-, and cyclin D1-. Moreover, a cytogenetic study showed a translocation at (14;18)(q32;q21). Finally, this case was diagnosed as diffuse FCL, although the tumor was mimicking mantle cell lymphoma.
 ...
PMID:Extranodal diffuse follicular center lymphoma mimicking mantle cell lymphoma of the intestine. 1463 13

Autoimmune Lymphoproliferative Syndrome (ALPS) is generally the result of a mutation in genes associated with apoptosis, like Fas, Fas ligand, Casp 8 and Casp 10. As a result, the normal homeostasis of T- and B-lymphocytes is disturbed and a proliferation of polyclonal T lymphocytes occurs. This leads to hepatosplenomegaly and lymphadenopathy and in most patients also to autoimmune phenomena like anemia and thrombocytopenia. The proliferating T cells are TCRalphabeta and/or TCRgammadelta positive but lack both CD4 and CD8. Hence they are termed double negative (DN) T cells. In addition, there is an increase of CD5 positive B cells. Individuals with germline mutations in the Fas gene have a high risk to develop non Hodgkin lymphomas (x 14) as well as Hodgkin lymphomas (x 51), in particular NLP Hodgkin lymphoma. Somatic mutations of Fas are frequently acquired during the normal germinal center reaction. Non Hodgkin lymphomas carry somatic mutations of the Fas gene in 11% and of the Casp 10 gene in 14.5% of the patients. In Hodgkin lymphomas, Fas mutations can be demonstrated in Reed-Sternberg cells in 10-20% of the patients. These data implicate a role for Fas-mediated apoptosis in preventing lymphomas. Inherited defects in receptor-mediated lymphocyte apoptosis represent a risk factor for lymphomas and somatic mutations of these genes may also play a role in the development and/or progression of lymphomas.
 ...
PMID:Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its relationship to Fas gene mutations. 1516 Sep 2

Familial hemophagocytic lymphohistiocytosis (FHL) is an inherited, fatal disorder of infancy. We report here a 17-day-old female infant who presented with high fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, thrombocytopenia, and liver failure. Leukocytosis was detected with circulating "atypical" lymphoid cells. Flow cytometric studies revealed expanded subpopulations of CD8+ T cells with unusual immunophenotypic features, including a subset that lacked CD5 expression. A liver biopsy showed hemophagocytic lymphohistiocytosis with exuberant infiltrates of CD8+ T cells that lacked perforin. Mutational studies revealed a 666C-->A (H222Q) missense mutation in the perforin gene. T-cell receptor studies on flow-sorted T-cell subpopulations revealed no evidence of monoclonality. Analysis of T-cell receptor excision circle levels indicated long proliferative history in the aberrant CD8+ T-cell subsets. This case provides an instructive example of uncontrolled reactive proliferation of CD8+ T cells in FHL, resulting in atypical morphology and unusual immunophenotypic features that might suggest malignancy in other clinical settings.
 ...
PMID:Unusual immunophenotype of CD8+ T cells in familial hemophagocytic lymphohistiocytosis. 1520 66

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.
 ...
PMID:CD5-negative chronic lymphocytic leukemia with indolent clinical course and autoimmune thrombocytopenia, successfully treated with rituximab. 1555 7

We report a 6-year-old boy who was diagnosed as having neuron-specific enolase (NSE)-positive pro-T cell type lymphoblastic lymphoma preceded with a variety of symptoms such as skin rash, giant splenomegaly, and hyper-gamma globulinemia. He first showed cervical lymphadenopathy in June 1999, followed by a fever of unknown origin with atypical erythema, hepatosplenomegaly, and a few lymphoblastoid cells present in the bone marrow in September. However, no specific treatments were started at this point because a cervical lymph node biopsy failed to show malignancy and the patient's signs and symptoms resolved spontaneously. Two months later, oral prednisolone therapy was started due to recurrence of the fever and erythema, but resulted in exacerbation of the skin lesions and generalized lymphadenopathy. A biopsy of the right inguinal lymph node performed in January 2000 revealed proliferation of lymphoblastic cells positive for CD3, CD5 and NSE with a rearrangement of T cell receptor gene Jdelta, leading to the diagnosis of lymphoblastic lymphoma. After intensified chemotherapy, he received an autologous peripheral blood stem cell transplantation and has been in complete remission for 4 years.
 ...
PMID:[NSE-positive lymphoblastic lymphoma in a boy with cutaneous involvement, giant splenomegaly, and hyper-gamma globulinemia]. 1567 16

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.
 ...
PMID:CD5+ diffuse large B-cell lymphoma with c-myc/IgH rearrangement presenting as primary effusion lymphoma. 1591 62


<< Previous 1 2 3 4 5 6 Next >>