Ask about this productRelated genes to: SMARCB1 Blocking Peptide
- 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 Blocking Peptide
Related articles to: SMARCB1 Blocking Peptide
- : We aimed to characterize the clinicopathologic features, treatment, and outcomes of three types of Switch/Sucrose Nonfermentable (SWI/SNF)-deficient sinonasal carcinomas (SDSCs), thereby expanding the spectrum of these rare entities and facilitating early diagnosis. : We designed a retrospective single-center case series to analyze the clinicopathological features of 17 patients with SMARCB1-deficient sinonasal carcinoma ( = 10), SMARCA4-deficient carcinoma ( = 6) and SMARCA4-deficient sinonasal teratocarcinosarcoma (TCS) ( = 1) treated between 2018 and 2025, and reviewed the relevant literature. : The cohort included 14 males and 3 females, aged 26 to 69 years (mean, 47 years). SMARCB1-deficient sinonasal carcinomas predominantly involved the ethmoid sinus (6 of 8 patients), presenting epistaxis (7 of 10 patients), nasal obstruction (5 of 10 patients), and ocular symptoms (4 of 10 patients). SMARCA4-deficient sinonasal carcinomas mainly arose in the nasal cavity (3 of 4 patients), characterized by nasal obstruction (4 of 6 patients), and epistaxis or purulent rhinorrhea (4 of 6 patients); ocular symptoms were less common (2 of 6 patients). The TCS patient had left nasal cavity and ethmoid involvement with nasal obstruction and purulent rhinorrhea. Most patients presented with advanced-stage disease (T4a, = 9), with skull base ( = 6), and orbital ( = 3) involvement. Histologically, immunohistochemical analysis confirmed complete SMARCB1 or SMARCA4 loss (complete in carcinomas and partial in TCS), diffuse CK positivity, and high Ki-67 indices. Treatment modalities included: chemotherapy and immunotherapy without surgery ( = 2), radical surgery with adjuvant chemoradiotherapy and immunotherapy ( = 2), radical surgery with chemoradiotherapy ( = 9), postoperative radiotherapy alone ( = 3), and non-radical surgery with chemoradiotherapy ( = 1). At a median follow-up of 19 months (range, 8-57 months), 2 patients were lost to follow-up, 3 died, 2 had persistent disease, and 10 remained disease-free. : SDSC is an aggressive tumor with male predominance and advanced-stage presentation. Early recognition and appropriate immunohistochemical evaluation are essential for timely diagnosis and management. Prospective studies of novel targeted and immunotherapeutic strategies are warranted. - Source: PubMed
Publication date: 2026/04/13
Qiu ZijunSurita AodengWang XiaoweiQian YingxianZhu ZhenzhenLv Wei - SMARCB1-deficient sinonasal carcinoma (SDSC) is a rare, highly aggressive malignancy with limited therapeutic options and no established preclinical models. Here, single-nucleus RNA sequencing (snRNAseq), spatial transcriptomics, and ex vivo patient-derived tissue slice culture (TSC) were combined to resolve intratumoral heterogeneity, niche organization, and treatment vulnerabilities in an index SDSC. snRNAseq identified three malignant subpopulations, including two specialized states marked by ALDH1A1 and NTN4. Spatial profiling mapped these states to distinct niches. The ALDH1A1+ compartment localized to a basal-associated niche with intermingled p63-positive basal cells adjacent to stroma, showed reduced proliferative activity, and displayed stem-like transcriptional features. Ex vivo drug testing revealed a striking response: the mTOR inhibitor Sapanisertib induced extensive tumor necrosis and was associated with near-complete depletion of ALDH1A1+ and NTN4+ states, accompanied by strong stress/apoptosis signatures and reduced endothelial cells. In an additional retrospective cohort of 12 SDSC, ALDH1A1 was present in all cases with heterogeneous spatial patterns and higher levels in recurrences. Mesothelin was expressed in the index case and a subset of tumors, supporting mesothelin-directed therapeutic strategies. - Source: PubMed
Publication date: 2026/05/02
Jurmeister PhilippFlach SusanneBergmayr LindaSchleich KonstanzeChimal Calderon EdgarH Mochmann LilianaZhdanovich YauheniyaKlingler DoreenPusztai AdaKübler AnnaWalz ChristophWestphalen Christoph BenediktBeck AlexanderLeitheiser MaximilianBreimer Gerben ERijken Johannes ADevriese LotBaumeister PhilippSkálová AlenaSchallenberg SimonKlauschen FrederickMock Andreas - 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