Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.24.11 (CD10)
 9,792 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical, histologic, cytogenetic, and molecular genetic data of 31 patients with extranodal, nodal, and splenic marginal zone B-cell lymphoma (MZBCL) are presented. Despite these variable clinical manifestations, a similar spectrum of morphologic features as well as distinctive immunophenotypic findings were noted. In all cases, a monotypic B-cell proliferation consistently negative for CD5, CD10, and CD23 was found expanding the marginal zone of the B follicle with and without colonization of the follicle centers. Clonal chromosomal abnormalities were detected in 23 of the 31 patients. Recurrent aberrations included whole or partial trisomy 3 (18 cases), trisomy 18 (9 cases), and structural rearrangements of chromosome 1 with breakpoints in 1q21 (9 cases) or 1p34 (6 cases), all of which were seen in extranodal, nodal, as well as splenic MZBCL. Abnormalities of the additional chromosome 3, such as +del(3)(p13),+i(3)(q10), or structural changes involving the distal part of the long arm, were evident in 9 of the 18 cases. All recurrent abnormalities were found in MZBCL more frequently than in other histologic entities of B-cell non-Hodgkin's lymphoma (B-NHL). None of the known lymphoma-associated chromosomal changes or rearrangements of the BCL1, BCL2, BCL3, BCL6, and CMYC genes were detected. We conclude that MZBCL represent a distinct entity of B-NHL with characteristic morphologic and immunophenotypic features and particular chromosomal abnormalities, and that a close histogenetic relationship between extranodal, nodal, and splenic MZBCL is likely, although the clinical presentation may vary.
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PMID:Marginal zone B-cell lymphomas of different sites share similar cytogenetic and morphologic features. 869 24

Isolated chromosomal translocations are important defining features of many non-Hodgkin lymphomas, especially of B-cell type. In contrast to some other translocations, the significance of IGH/BCL3 translocations is not well defined. Although often considered a feature of the ill-defined entity atypical chronic lymphocytic leukemia, very few cases are reported in which involvement of BCL3 and the precise B-cell neoplasm are both well documented. For this reason, we report a splenic-based CD5(-), CD10(-), CD43(-), CD23(-), CD103(-), FMC7(+), CD25(+) small B-cell lymphoma associated with epithelioid histiocyte clusters and a t(14;19)(q32;q13) representing an IGH/BCL3 translocation based on classical cytogenetic studies, chromosomal painting, and fluorescence in situ hybridization studies. The previously reported neoplasms with t(14;19)(q32;q13) or IGH/BCL3 translocations are also reviewed. The present case did not fall into any of the classic B-cell lymphoma categories and clearly did not represent chronic lymphocytic leukemia/small lymphocytic lymphoma. This case suggests that the IGH/BCL3 translocation may help to define a new clinicopathologic entity.
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PMID:Splenic small B-cell lymphoma with IGH/BCL3 translocation. 1642 23

The recently recognized renal cell carcinomas (RCCs) associated with Xp11.2 translocations (TFE3 transcription factor gene fusions) are rare tumors predominantly reported in children. They comprise at least one-third of pediatric RCCs and only few adult cases have been reported. Here, we present a case of Xp11.2 translocation RCC in 26-year-old pregnant female. Her routine antenatal ultrasonography accidentally found a complex cystic right renal mass. Further radiologic studies revealed unilocular cyst with multiple mural nodules at inferior pole of right kidney, which was suspicious for RCC. She underwent right radical nephrectomy at 15 weeks gestation. Macroscopically, the cystic tumor was well encapsulated with multiple friable mural nodules on its inner surface. Microscopically, the tumor consisted of clear and eosinophilic/oncocytic voluminous cells arranged in papillary, trabecular, and nested/alveolar patterns. Occasional hyaline nodules and numerous psammoma bodies were present.Immunohistochemically, the tumor showed strong nuclear positivity for TFE3. Epithelial membrane antigen, CD10, and E-cadherin were strongly positive. Cytokeratin AE1/AE3, cytokeratin CAM-5.2, calveolin, and parvalbumin were moderately positive. Cytokeratin 7, renal cell carcinoma antigen, and colloidal iron were focally weakly positive. BerEP4 and carbonic anhydrase IX were negative. Cytogenetically, the tumor harbored a novel variant translocation involving chromosomes X and 19, t(X;19)(p11.2;q13.1). Interphase FISH analysis performed on cultured and uncultured tumor cells using a dual-color break-apart DNA probe within the BCL3 gene on 19q13.3 was negative for the BCL3 gene rearrangement. She received no adjuvant therapy, delivered a normal term baby five months later, and is alive without evidence of disease 27 months after diagnosis and surgery. Unlike most recently reported Xp11.2 translocation RCCs in adult patients with aggressive clinical course, this adult case occurring during pregnancy with a novel translocation involving chromosome 19 followed an indolent clinical course.
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PMID:Xp11.2 translocation renal cell carcinoma occurring during pregnancy with a novel translocation involving chromosome 19: a case report with review of the literature. 1945 Feb 77

Classic splenic marginal zone lymphomas are CD5-, CD10-, CD23-, CD43-, and usually IgD+ with biphasic white pulp nodules. However, the 2008 World Health Organization classification accepts splenic marginal zone lymphomas with monophasic marginal zone-like white pulp nodules and recognizes a group of unclassifiable splenic small B-cell lymphomas. To explore the relationship of classic splenic marginal zone lymphomas to these other less well-defined splenic lymphomas, a multiparameter study of 47 splenic marginal zone lymphomas and unclassifiable splenic small B-cell lymphomas was performed. Seventeen of 31 splenic marginal zone lymphomas were biphasic, and 14 were monophasic (90%-100% marginal zone-like white pulp nodules). Sixteen cases were unclassifiable splenic small B-cell lymphomas, most lacking a marginal zone-type component. There were many clinical similarities between the 3 groups, including similar survivals. Monophasic and unclassifiable cases were less likely to have a typical splenic marginal zone lymphoma phenotype (28.6%, 23.1%) compared with biphasic cases (86.7%), usually because of IgD negativity (P < .003). Thirty-four of 42 (81%) cases had cytogenetic abnormalities by fluorescence in situ hybridization; and 17 of 20 (85%), by classical cytogenetics. The most frequent fluorescence in situ hybridization abnormalities among the splenic marginal zone lymphomas were del(7)(q31) (26%), +12 (25%), and +3q27 (27%); and among the unclassifiable cases, +12 (50%) and +3q27 (36%). Five of 6 unclassifiable cases with exclusively small non-marginal zone-like lymphocytes involving both white and red pulp had +12 compared with 9 of 34 other cases (P < .02). CDK6 (2 cases) and BCL3 (1 case) rearrangements were only seen in the unclassifiable group. These results support including both biphasic and monophasic cases as splenic marginal zone lymphomas, but suggest that the lack of a non-marginal zone-like population in the monophasic group is associated with some biologic differences. They also demonstrate a relatively large proportion of unclassifiable cases, including a group with frequent +12.
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PMID:Defining the borders of splenic marginal zone lymphoma: a multiparameter study. 2000 34

A rare recurrent chromosomal translocation, t(14;19)(q32;q13), has been identified in a variety of B-cell malignancies, including chronic lymphocytic leukemia (CLL). We report a unique case of CLL in a patient carrying both trisomy 12 and t(14;19) (q32;q13.1), in whom t(11;14)(q13;q32) developed at relapse. The patient was a 77-yr-old woman, and her lymphoma cells at presentation showed CD5(+), CD10(-), CD19(+), CD20(+)(dim), CD23(+), CD38(+), and CD11c(+). At relapse, the patient's lymphoma cells showed positive staining for cyclin D1 in addition to CD5, CD20, and CD23. Lymphoma cells in specimens at both presentation and relapse were positive for lymphoid enhancer factor 1 (LEF1) and negative for sex-determining region Y-box 11 (SOX11). IGH-BCL1 FISH became positive at relapse. Split FISH assay using BCL1, BCL3, IGH, and CCND1 probes on lymph node specimens obtained at presentation and at autopsy confirmed that the translocation of BCL3 was solely detected in the lymph node at presentation and detected BCL3 and CCND1 translocations in the specimen at autopsy. These observations indicated that IGH-BCL3 and IGH-CCND1 had occurred in the same clone after treatment of the disease. In line with immunohistochemical and cytogenetic studies, additional PCR analysis of the FR3-JH region showed the same sequence derived from IGHV4-34 in specimens obtained at disease onset and relapse.
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PMID:Acquisition of t(11;14) in a patient with chronic lymphocytic leukemia carrying both t(14;19)(q32;q13.1) and +12. 2358 35