ABSTRACT
<p><b>OBJECTIVE</b>To study the clinicopathologic features, immunohistochemical findings, diagnosis and differential diagnosis of atypical teratoid/rhabdoid tumors (AT/RT) of central nervous system in childhood.</p><p><b>METHODS</b>The clinicopathologic data, morphologic features and immunophenotypes were reviewed in 6 cases of AT/RT. EnVision method was applied. Antibodies include cytokeratin (CK), epithelial membrane antigen (EMA), vimentin, smooth muscle actin (SMA), muscle specific actin (MSA), glial fibrinary acid protein (GFAP), desmin, placental alkaline phosphatase (PLAP) and INI1.</p><p><b>RESULTS</b>Five of the six cases of AT/RT occurred in infancy and early childhood. Histologically, the predominant component was rhabdoid cells. Cytoplasmic inclusions were present in all cases. Primitive neuroectodermal tumor (PNET) component was also identified in 5 of the 6 cases studied. Immunohistochemically, the tumor cells were positive for cytokeratin, epithelial membrane antigen and vimentin. The staining for INI1, desmin and PLAP was negative. Smooth muscle actin was expressed in 2 cases and glial fibrillary acidic protein in 5 cases. The proliferative index as demonstrated by Ki-67 staining was high.</p><p><b>CONCLUSIONS</b>AT/RT is not a particularly uncommon malignancy in childhood. The histologic hallmark is the presence of rhabdoid cells with cytoplasmic inclusions. The tumor cells are positive for cytokeratin, epithelial membrane antigen and vimentin, and negative for INI1. Differential diagnosis includes PNET, medulloblastoma and medullomyoblastoma.</p>
Subject(s)
Child, Preschool , Female , Humans , Infant , Male , Brain Neoplasms , Metabolism , Pathology , General Surgery , Diagnosis, Differential , Keratins , Metabolism , Medulloblastoma , Metabolism , Pathology , Mucin-1 , Metabolism , Neuroectodermal Tumors, Primitive , Metabolism , Pathology , Rhabdoid Tumor , Metabolism , Pathology , General Surgery , Teratoma , Metabolism , Pathology , General Surgery , Vimentin , MetabolismABSTRACT
<p><b>OBJECTIVE</b>To study the expression of E-cadherin and beta-catenin in neuroblastomas of various degrees of differentiation, and to investigate their molecular mechanisms in correlation with clinicopathologic parameters.</p><p><b>METHODS</b>Immunohistochemistry EnVision method was used to detect E-cadherin and beta-catenin expression in 90 paraffin-embedded tissue samples of neuroblastomas. The methylation status of CpG islands of E-cadherin promoter was investigated by MSP in 7 fresh tissue and 24 paraffin-embedded tissue samples. The mutation status of exon 3 of beta-catenin gene was studied by PCR in 7 fresh tissue samples. Statistical analysis of the data was performed by SPSS software.</p><p><b>RESULTS</b>E-cadherin and beta-catenin were abnormally expressed in neuroblastomas in general. The expression of beta-catenin in well-differentiated neuroblastoms was markedly higher (47/70, 67.1%) than that of the poorly differentiated tumors (8/20, 40.0%). There was a markedly decreased expression of both genes in tumors with lymph node metastasis than those without. Demethylation was seen in some regions of the promoter of E-cadherin in 31 cases of nuroblatomas. PCR of the exon 3 of beta-catenin followed by DNA sequencing demonstrated rearrangements and mutations in 7 cases, including 2 cases harboring identical point mutation at gene position 27184, leading to a T-->A alteration.</p><p><b>CONCLUSIONS</b>The abnormal over-expression of E-cadherin in neuroblastomas is independent of the methylation status of their promoter sequences. The abnormal expression of beta-catenin may be related to mutational changes at exon 3 of the gene.</p>
Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , Cadherins , Genetics , Metabolism , CpG Islands , Genetics , DNA Methylation , DNA, Neoplasm , Genetics , Exons , Ganglioneuroblastoma , Genetics , Metabolism , Pathology , Gene Rearrangement , Lymphatic Metastasis , Mediastinal Neoplasms , Genetics , Metabolism , Pathology , Neuroblastoma , Genetics , Metabolism , Pathology , Point Mutation , Promoter Regions, Genetic , Genetics , Retroperitoneal Neoplasms , Genetics , Metabolism , Pathology , Sequence Analysis, DNA , beta Catenin , Genetics , MetabolismABSTRACT
<p><b>OBJECTIVE</b>To detect breast cancer specific gene 1 (BCSG1) expression in different breast tissue, analysis its correlation with clinical parameters and evaluate the prognosis of breast cancer.</p><p><b>METHODS</b>The expression of BCSG1 was detected by reverse transcription-polymerase chain reaction (RT-PCR) in surgical specimens from 84 cases of breast disease patients selected randomly at XinHua Hospital affiliated with Shanghai Second Medical University from September 1999 to December 2002. Of 84 cases, 72 case were breast cancer. Statistic analysis BCSG1 gene expression correlation with clinical parameters of breast cancer. 72 breast cancers were followed up (4 - 43 months) to set up independent prognosis factor by survival analysis.</p><p><b>RESULTS</b>BCSG1 was undetectable in all benign breast lesions, while was detectable in 36.1% of all breast cancer samples (26/72), in which 79.2% of stage III/IV cases were positive (19/24). The expression of BCSG1 was tightly correlated with the stage (P = 0.000) and the size of tumor (P = 0.007). Both ER (P = 0.027) and BCSG1 (P = 0.001) were the independent prognosis factor of breast cancer.</p><p><b>CONCLUSION</b>BCSG1 is one of independent tumor marker of breast cancer, the expression of BCSG1 is closely correlated to the stage of breast cancer and the tumor size. Maybe, BCSG1 is a new prognosis factor of breast cancer.</p>