A Case of Central Nervous System Atypical Teratoid/Rhabdoid Tumor of The 4th Ventricle : A Highly Malignant Tumor in Infancy and Childhood Frequently Mistaken for Medulloblastoma

Central nervous system atypical teratoid/rhabdoid tumor(CNS rhabdoid tumor) is a rare malignancy of uncertain origin. It typically occurs in infants and young children and comprises only a small fraction of pediatrics CNS malignancies. The tumor contains a large spindled cell component as classical rhabdoid morphology and focal areas resembling primitive neuroectodermal tumor. The tumor is defined histopathologically by the presence of rhabdoid cells, but contains considerable heterogeneity of the cell type, including the frequent presence of primitive neuroectodermal tumor. The prognosis for children with CNS rhabdoid tumor is dismal. We experienced a case of a three-year-old female who had been transferred to our hospital for seizure and vomiting. She was diagnosed as CNS atypical teratoid/rhabdoid tumor by biopsy. In spite of surgery and intensive postoperative multi-agents chemotherapy, she developed a local recurrence around the operation site at six months after surgery. We present this case with a brief review of related literatures.

Apolipoprotein E Polymorphism and Plasma Lipid Levels in Obese Children

PURPOSE: The increased prevalence of dyslipoproteinemia in obese children probably contributes to the high risk of cardiovascular disease associated with being overweight. The genetic makeup is possible one of the factors that influence the impact of obesity on lipid metabolism. A relation between apolipoprotein E (Apo E) polymorphism and lipid metabolism has been convincingly demonstrated in large population. The purpose of this study was to determine whether Apo E polymorphism also influences the risk of dyslipidemia in obese children. METHODS: We studied 89 obese children with weight-for-height excess of 40% by obesity index. We measured the serum concentration of total cholesterol, triglyceride, HDL-cholesterol, LDL- cholesterol, Lipoprotein (a) (Lp(a)), apolipoprotein A (Apo A) and Apo B after overnight fasting. Apo E gene polymorphism of the 89 obese children and 30 control students were analyzed by ARMS (amplication refractory mutation system) method. RESULTS: The frequency of etsilon2, etsilon3, and etsilon4 allele were 9.7%, 82.3% and 8.0%, respectively in children. There was no significant difference between Apo E allele frequency of obese children and those of nonobese children. The serum concentrations of total cholesterol, LDL-cholesterol and Apo B were lower in etsilon2 genotype. The obese children with etsilon4 genotype had higher frequency of hypertriglyceridemia, increased level of Lp(a) and decreased level of HDL-cholesterol than other types. There was no evidence of EKG abnormality and cardiovascular complications in obese children. CONCLUSION: Our data demonstrated that obesity is associated with an increase in the risk of lipoprotein abnormalities and that the serum concentrations of total cholesterol, LDL-cholesterol and Apo B were influenced by Apo E genotypes.

Induction of Apoptosis of Cancer Cells by Inhibition of Bcl-2 Expression / 대한암학회지

PURPOSE: High levels and aberrant patterns of Bcl-2 gene expression have been reported in a variety of human cancers, including prostate, colorectal, lung and gastric cancers, neuroblastoma, non-Hodgkins lymphoma, and both acute and chronic leukemia. The Ewings sarcoma is a common malignant bone tumor in children and adolescents. Nearly all Ewings sarcomas have a t(11;22) chromosomal translocations which involves EWS gene and Fli-1 of ETS family transcription factors. The patterns of Bcl-2 gene expression in Ewings sarcoma is less well known. The inhibition of Bcl-2 gene expression leads to increase a apoptosis in several cancer cells. This study was undertaken to characterize the patterns of Bcl-2 gene expression in Ewings sarcoma cell (TC135) expressing fusion protein, EWS-Fli-l, and to induce the apoptosis of Ewings sarcoma cell by targeting Bcl-2 gene expression using antisense strategy. MATERIALS AND METHODS: We used two types of antisense EWS-Fli-1 and Bcl-2 expression vectors. These vectors were transfected to TC135 cells by calcium phosphate method, and transformed cells were selected using G418. The transformed cells were stimulated with apoptosis-inducing reagents, and changes of Bcl-2 expression were analyzed by Western and Northern blot analyses. To confirm the increased apoptosis, we checked DNA fragmentation, cell viability assay by MTT and ICE (interleuldn converting enzyme) activity. RESULTS: The TC135 cells transfected with antisense EWS-Fli-1 expression vector showed negatively regulated Bcl-2 protein and mRNA expression, but those transfected with control vector (pcDNA3) revealed no change of Bcl-2 gene expression. These results strongly suggested that the EWS-Fli-1 fusion protein directly regulate Bcl-2 gene expression on the Bcl-2 gene promotor region. And the TC135 cells transfected with antisense Bcl-2 expression vector showed increased apoptosis. These results suggested that the apoptosis pathway of Ewings sarcoma is regulated by EWS-Fli-1 fusion protein and following Bcl-2 gene. Finally, TC135 cells transfected with antisense Bcl-2 expression vector did not form colonies in soft agar, which may infer the loss of tumorigenicity. CONCLUSION: The targeting of Bcl-2 gene in the TC135 cells using antisense strategy lead to an increased apoptosis in .Ewings sarcoma cells. This approach can be considered as an efficient candidate strategy of cancer gene therapy.

A Case of Partial DiGeorge Syndrome / 대한소아내분비학회지

DiGeorge syndrome, a developmental defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformation. This syndrome is usually associated with deletion of long arm in chromosome 22 (22q11-). We experienced a case of partial DiGeorge syndrome in a 2-month-old male who had hospitalized because of recurrent hypocalcemic tetany and tetralogy of Fallot. Immunologic studies revealed the decreased percentage of T lymphocyte and increased percentage of B lymphocyte. Chromosomal study with high resolution banding, showed 46, XY, 22q13 deletion. We report a case of partial Digeorge syndrome with a brief review of literatures.