Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0476089 (endometrial cancer)
 11,379 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary non-polyposis colon cancer (HNPCC) is an autosomal dominant disorder featuring familial clustering of colorectal and/or endometrial cancer, and other malignancies. Except for a rare case report, Hodgkin's disease (HD) and non-Hodgkin's lymphoma (NHL) have not been considered part of HNPCC. Recent murine models for HNPCC have shown an increased incidence of B- and T-cell lymphoma, as well as tumors of the gastrointestinal tract and other organ systems, involving defects in genes resulting in faulty mismatch repair (MMR) of DNA. These MMR genes include MLH1, MSH2, MSH3, MSH6, PMS1 and PMS2. We sought to analyze the occurrence of NHL and HD in families with clusters of colorectal cancers (CRC). Probands from 21 kindreds were classified as HNPCC (3), HNPCC-like (5), and HNPCC-variant (13); seen and followed by Clinical Genetics at Memorial Hospital the kindreds were assessed for the occurrence of NHL or HD. Of the 21 pedigrees, a total of 37 patients were identified who were diagnosed with leukemia, lymphoma, or HD. Fourteen of the 37 patients with a diagnosis of NHL or HD were further classified and showed varying histologies ranging from chronic lymphocytic leukemia/small lymphocytic lymphoma (2), mycosis fungoides (1), follicular lymphoma (1), extranodal marginal zone lymphoma of MALT type (2), diffuse large B-cell lymphoma (4), nodular sclerosis HD (3), and mixed cellularity HD (1). Microsatellite instability studies were performed on 6 cases but none showed evidence of replication error repair defects. Immunohistochemical stains performed on paraffin sections from these 6 representative cases showed differential protein expression of MLH1, MSH2, MSH6, and PMS2 when compared to normal reactive tissues from the same patient but showed no significant differences when compared to controls of non-familial, sporadic lymphomas. These results suggest that lymphomas arising in the setting of familial CRC do not bear the molecular hallmarks of HNPCC. Further studies are needed to explain the differential patterns of expression of RER-associated proteins in lymphomas, as well as the association of lymphomas and possibly renal cell cancers in a subset of kindreds in which CRC clustering is evident.
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PMID:Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancer. 1240 Jun 5

The clinical and pathological findings of plasmablastic lymphoma (PBL) have been described in the literature but the etiology is not well established, and treatment options are poorly defined. We reviewed patients with PBL in our institution to characterize the clinicopathologic features in our patient population. In this retrospective analysis from a single academic institution, five patients with PBL were identified and analyzed. Human immunodeficiency virus and human herpesvirus 8 (HHV-8) were identified in 40% (two out of five) and 80% (four out of five) of these patients, respectively. Central nervous system (CNS) involvement was identified in four out of five (80%) patients. Interestingly, three out of five patients had a concurrent or preceding second primary malignancy including small lymphocytic lymphoma, endometrial cancer, and nonsmall cell lung cancer. Most of the patients had advanced disease and a poor performance status at diagnosis. Only two of the patients received systemic chemotherapy with an initial partial response. All five patients died; the median overall survival was 1 month. Our experience in patients with PBL indicates that CNS involvement is more common than reported in the literature. Coexistence of a second primary malignancy may be frequent, and prognosis remains dismal with standard lymphoma therapy. Lastly, the role of HHV-8 in the etiopathogenesis needs further trials.
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PMID:Plasmablastic lymphoma: CNS involvement, coexistence of other malignancies, possible viral etiology, and dismal outcome. 1878 25