Beta-catenin is a glicoprotein which has an important role in cell-cell adhesion, as well as in cell signal transmission, in u regulation of gen expression and in interaction with axin and APC (adenomatous poliposis coli). Its oncogenic role in several types of carcinomas in human population is well known. It is very likely that beta-catenin as an protooncogen plays an important role in genesis of Wilms tumor. It is well known that in 15% Wilms tumors there are beta-catenin mutations, which indicates that there is a disorder in Wnt signal path that plays an important role in Wilms tumor genesis. The aim of our study was to investigate b-catenin expression in Wilms tumor, to compare it with the expression in normal renal tissue as well as to see if there is a positive correlation between b-catenin expression in Wilms tumor with tumor stage, histologic type and/or prognostic group.
Adhesion molecules are glicoprotees which have extracellular, transmembranous and intracytoplasmatic part. They show their basic role is in cell interaction in the tissue on one side and between cells and matrix on the other side. They have an important role in stabile integrity of tumor tissue, as well as in differentiation, proliferation, apoptosis and metastatic spread of tumorous cells. Since there is very little known facts about adhesion molecule detection and about its significance in Wilms tumor, our intention was to collect all known achievements which could be of importance for better understanding of tumors nature and successful treatment. Especially because of well known fact that in 15% Wilms tumors there are b-catenin mutations, which indicates that there is a disorder in Wnt signal path that plays an important role in Wilms tumor genesis.
Introduction Extraskeletal Ewing sarcoma (ES) is a highly malignant neoplasm occurring most commonly in the thoracic wall and the paravertebral region. ES belongs to the group of small round cell tumors and displays pathognomonic structural abnormalities of the EWS gene. The aim of this article was to present extraskeletal ES in an extremely rare anatomic location, an unusual clinical presentation, and modified treatment strategy. Case outline A 15-year-old boy was admitted to the hospital with acute abdominal pain in the right iliac region. During urgent operation, because of suspected appendicitis with periappendicular infiltrate, partly hemorrhagic tumor tissue was discovered in the preperitoneal space. Histopathological and immunohistochemical analyses revealed a tumor resembling extraskeletal ES. A postoperative CT scan showed the tumor rest, which was completely removed in the second operation. Molecular genetic analysis confirmed extraskeletal ES by finding the EWSR1-FLI1 fusion gene. Chemotherapy and radiotherapy according to the VAC protocol were started, and the patient is free of the disease eight months after the first operation. Conclusion Our case is the fourth case of extraskeletal ES located in the abdominal wall, the second case confirmed by the molecular genetic finding, and the first case described in children at this anatomic site. Due to an extremely rare location, unusual clinical presentation, and needed genetic analysis, the tumor treatment strategy was modified with good short-term results.
Primary lung disease in children homoallelic for L444P mutation in GBA gene emerges as a significant clinical manifestation of GD with unclear response to ERT.
Deficiency of lysosomal acid lipase (LAL-D) is caused by biallelic pathogenic variants in the LIPA gene. Spectrum of LAL-D ranges from early onset of hepatosplenomegaly and psychomotor regression (Wolman disease) to a more chronic course (cholesteryl ester storage disease - CESD). The diagnosis is based on lipid and biomarker profiles, specific liver histopathology, enzyme deficiency, and identification of causative genetic variants. Biomarker findings are a useful for diagnostics of LAL-D, including high plasma concentration of chitotriosidase as well as elevated oxysterols. Current treatment options include enzyme replacement therapy (sebelipase-alpha), statins, liver transplantation, and stem cell transplantation. We present two pairs of siblings from Serbia with a distinctive phenotype resembling LAL-D with a novel variant of unknown significance (VUS) detected in the LIPA gene and residual LAL activity. All patients presented with hepatosplenomegaly at early childhood. In siblings from family 1, compound heterozygosity for a pathogenic c.419G>A (p.Trp140Ter) variant and a novel VUS c.851C>T (p.Ser284Phe) was detected. Patients from family 2 were homozygous for c.851C>T VUS and both have typical histopathologic findings for LAL-D in the liver. Enzyme activity of LAL was tested in three patients and reported as sufficient, and therefore enzyme replacement therapy could not be approved. When confronted with a challenge of diagnosing an inherited metabolic disorder, several aspects are taken into consideration: clinical manifestations, specific biomarkers, enzyme assay results, and molecular genetic findings. This report brings cases to light which have a considerable discrepancy between those aspects, namely the preserved LAL enzyme activity in presence of clinical manifestations and rare variants in the LIPA gene.
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