Ask about this productRelated genes to: SMARCB1 antibody
- Gene:
- SMARCB1 NIH gene
- Name:
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
- Previous symbol:
- SNF5L1
- Synonyms:
- BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144, SNF5
- Chromosome:
- 22q11.23
- Locus Type:
- gene with protein product
- Date approved:
- 1995-08-21
- Date modifiied:
- 2019-04-23
Related products to: SMARCB1 antibody
Related articles to: SMARCB1 antibody
- Pineal region tumors are rare and biologically heterogeneous central nervous system neoplasms that occur predominantly in the pediatric population and are associated with significant morbidity and mortality. Among these, pineal parenchymal tumors encompass a spectrum of entities ranging from indolent pineocytomas to highly aggressive pineoblastomas. Recent advances in genomic, epigenomic, and transcriptomic profiling have fundamentally reshaped the understanding of these tumors, moving beyond purely histological classification toward molecularly defined subgroups with distinct biological behavior and clinical outcomes. This review provides a comprehensive overview of the current molecular landscape of pineal region tumors, with a particular focus on genetic predisposition, somatic driver alterations, DNA methylation profiles, and transcriptional programs across pineocytoma, pineal parenchymal tumor of intermediate differentiation (PPTID), pineoblastoma, papillary tumor of the pineal region (PTPR), and desmoplastic myxoid tumor, -mutant. Key oncogenic mechanisms involving microRNA biogenesis disruption, cell-cycle deregulation, MYC/FOXR2-driven transcriptional amplification, PI3K/AKT/mTOR pathway activation, and chromatin remodeling defects are discussed, highlighting their prognostic and therapeutic relevance. In particular, the molecular subdivision of pineoblastoma into distinct subgroups has revealed subgroup-specific vulnerabilities that may be exploitable through targeted therapies. Emerging translational approaches, including molecularly guided treatment strategies and rapid intraoperative sequencing technologies, are also addressed. Despite these advances, the rarity of pineal region tumors continues to limit large-scale clinical trials. Multicenter collaboration and systematic integration of molecular profiling into clinical practice will be essential to improve outcomes for affected children. - Source: PubMed
Publication date: 2026/04/03
Pasquinelli ElenaGuidi MilenaSardi Iacopo - DNA methylation of tumour suppressor genes is the most well-studied epigenetic alterations in head and neck cancer. The tumour suppressor genes CDKN2A, RASSF1, and TIMP3 are the most frequently investigated, but the methylation status has been analysed in more than another dozen genes, for example MGMT. In oral squamous cell carcinoma (OSCC) methylation of MGMT, DAPK, and CDKN2A are promising biomarkers of prognostic value. Inhibition of LSD1, encoding a histone demethylase, attenuates the development and growth of OSCC. Methylation of TIMP3 in sinonasal adenocarcinoma (intestinal type) is associated with a significant worse survival, an association not seen in sinonasal squamous cell carcinoma. Olfactory neuroblastoma can be distinguished into four unique subgroups by methylation profiling. Methylation of RASSF1 is seen in NUT carcinoma, and significantly higher RASSF1 methylation is found in SMARCB1/INI1-deficient tumours compared to the less aggressive SMARCB1/INI-proficient tumours. Genome-wide methylation profiling in combination with IDH2 mutation status suggests that tumours with undifferentiable SNUC morphology can be classified into for subgroups. Most salivary gland carcinoma subtypes have specific epigenetic signatures. Four of the most common subtypes, adenoid cystic carcinoma (ADCC), mucoepidermoid carcinoma (MEC), acinic cell carcinoma (ACC), and carcinoma ex pleomorphic adenoma (CXPA) have all methylation of RASSF1A, two (MEC and ADCC) also of TIMP3 and two (MEC and CXPA) of p16INK. A methylation landscape of 20 salivary gland tumours (SGTs) is nowadays available. - Source: PubMed
Publication date: 2026/04/29
Hellquist HenrikCastelo-Branco PedroStenman GöranNadal AlfonsAgaimy AbbasZidar Ninade Lima-Souza Reydson AlcidesMariano Fernanda VivianeCoca-Pelaz AndrésFerlito Alfio - Myoepithelioma-like tumor of the vulvar region (MELTVR) is a rare mesenchymal neoplasm that exhibits morphological features resembling those of soft tissue myoepitheliomas, yet displays distinct immunophenotypic and molecular genetic characteristics. All MELTVR cases reported in the existing literature have been estrogen receptor (ER)-positive. In contrast, this study presents the first documented case of ER-negative MELTVR, thereby broadening the known immunohistochemical phenotypic spectrum of this neoplasm. Next-generation sequencing (NGS) analysis revealed copy number loss of and a novel fusion in the tumor, while no other gene rearrangements, including those involving , , or , were detected. This finding not only expands the molecular genetic spectrum of MELTVR but also provides valuable insight for future investigations into its pathogenesis, biological behavior, and refinement of clinical diagnostic and therapeutic strategies for this rare tumor. - Source: PubMed
Publication date: 2026/04/13
Wang BeiSong TingtingYilijiang AjiguliWang JiangboBai ShuxiaWang SiqiLiu ShaoboSun Wenjia - Chordomas are rare malignant tumors that typically arise at the skull base and rarely present with cerebrospinal fluid (CSF) rhinorrhea. We report the case of a 40-year-old man with a clival chordoma who initially presented with headaches and serous rhinorrhea. Imaging revealed a non-enhancing cystic lesion extending from the prepontine cistern to the sphenoid sinus. Endoscopic endonasal removal of the cystic lesion and dural reconstruction was performed. Histopathology of the lesion confirmed a conventional chordoma, with positive brachyury and preserved nuclear SMARCB1 staining. The diagnosis was based on the surgical findings and histological analysis, including the Ki-67 labeling index and bone invasion. The patient recovered uneventfully and has remained free of both tumor recurrence and CSF rhinorrhea for more than two years. This case highlights the importance of including chordomas in the differential diagnosis of CSF rhinorrhea due to clival cystic lesions. It also emphasizes the critical role of histopathological examination in distinguishing chordomas from other clival lesions, such as ecchordosis physaliphora (EP). Gross total resection (GTR) should be performed when feasible, and histologic evidence of bone invasion can be an important diagnostic clue for chordomas. - Source: PubMed
Publication date: 2026/03/27
Mochizuki YoshikiMizuno ReinaShirahata MitsuakiHomma TakuSuzuki TomonariMishima Kazuhiko - Atypical teratoid/rhabdoid tumors (AT/RT) are rare, highly aggressive pediatric central nervous system (CNS) malignancies. AT/RT of the lateral ventricle is an exceptionally rare subgroup, with only 11 reported cases. inactivation is the primary molecular feature of AT/RT. Current consensus is to classify AT/RT based on methylation and molecular profiles into the following subgroups: AT/RT-, AT/RT-, AT/RT-, and a potentially distinct -deficient subtype. AT/RT- exhibits high levels of CD8 tumor-infiltrating lymphocytes, indicating immunogenic potential. - Source: PubMed
Publication date: 2026/04/21
Wang HaohanYing ZeshengZhi ZhuoZhang NijiaWang JiaZhang NanCai YingjieGe Ming