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Ganglioneuroblastomas (GNB) and anaplastic ganglioneuroblastomas (AGNB) are the most common subtypes of malignant neuroblastoma in children. Even though these tumors are quite common, their histopathology and genetic background are still not well understood. Because of the close relationship between ganglioneuromas and ganglioneuroblastomas, it is speculated that many GNB and AGNB might be due to malignant transformation of the fetal locus ‘Krox 20’. SMARCB1 is the gene encoding a core component of the SWI/SNF complex, which is responsible for chromatin remodeling. Mutation of the SMARCB1 gene has been found in the vast majority of cases of malignant rhabdoid tumor and in some cases of cystic nephroma, a renal hamartoma with myoepithelial differentiation. This study aimed at determining whether GNB and AGNB represent a specific form of malignant ganglioneuroma/rhabdoid tumor, in which the tumor cells have mutated the SMARCB1 gene. Mutations in the SMARCB1 gene in GNB and AGNB from two children were investigated by direct sequencing. In addition, results were compared with mutations in 7 other subtypes of neuroblastoma from another 20 children. SMARCB1 mutations were found in 6/7 (85.7%) GNB and 4/4 (100%) AGNB. SMARCB1 mutations were not found in other subtypes of neuroblastoma including 5 other GNB, 13 intermediate cell neuroblastomas, and 6 ganglioneuroblastomas (Ganglioneuroblastoma/Schwannian stroma). Although a larger number of GNB and AGNB and more children must be studied, it is concluded that these tumors are closely related to malignant rhabdoid tumor and would be classified as a specific type of mal http://www.happytraveler.it/wp-content/uploads/2022/06/yilmart.pdf
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