Abstract
Rhabdoid tumor is a malignant neoplasm first described as a rhabdoid variant of Wilms tumor in the kidney. Although the term rhabdoid is derived from the histologic resemblance of tumor cells to rhabdomyoblasts, the cell of origin is still undefined. Rhabdoid tumor is characterized by loss of expression of SMARC proteins.
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Notes
- 1.
SMARCB1: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily B, member 1 (also known as INI1) encodes a protein which is part of the BAF (hSWI/SNF) complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. This ATP-dependent chromatin-remodeling complex plays an important role in different cell activities including cell differentiation; in particular, regulation of the stem cell-associated program, which is maintained by the repressive effect of the EZH2-dependent PRC2 (polycomb repressive complex 2), is disrupted by SMARCB1. Overall, SMARCB1 has been found to act as a tumor suppressor, and its mutations have been associated with a variety of malignancies including sarcomas.
- 2.
SMARCA4, located at 19p13, encodes the protein BRG1 and is part of the switch/sucrose-nonfermenting (SWI/SNF) chromatin remodeling complex that is also known as the BAF (BRG1-associated factors) complex. This complex is ATP-dependent and plays an important role in transcription, differentiation, and DNA repair and has been shown to behave as a tumor-suppressing complex. Each complex contains multiple subunits, each of which contains a mutually exclusive ATPase subunit, SMARCA4 (BRG1), or SMARCA2 (BRM).
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Mocellin, S. (2021). Rhabdoid Tumor. In: Soft Tissue Tumors . Springer, Cham. https://doi.org/10.1007/978-3-030-58710-9_222
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DOI: https://doi.org/10.1007/978-3-030-58710-9_222
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