SMARCB1 antibody Host Rabbit
- Known as:
- SMARCB1 (anti-) Host Rabbit
- Catalog number:
- 'H00006598-D01
- Product Quantity:
- 100
- Category:
- -
- Supplier:
- ACR
- Gene target:
- SMARCB1 antibody Host Rabbit
Related genes to: SMARCB1 antibody Host Rabbit
- 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 Host Rabbit
Related articles to: SMARCB1 antibody Host Rabbit
- - Source: PubMed
Publication date: 2026/06/12
- : SWI/SNF chromatin remodeling complex-deficient malignancies constitute an aggressive group of undifferentiated tumors defined by inactivation of core subunits including SMARCA4 (BRG1) or SMARCB1 (INI1). In the head and neck, these tumors predominate in the sinonasal tract; oral cavity presentations are exceedingly rare, with reported cases predominantly representing metastatic disease. Peri-implant gingival masses in clinical practice are overwhelmingly reactive, but their occasional malignant nature mandates timely biopsy and thorough pathologic workup. We report the first comprehensively molecularly characterized case of a peri-implant gingival SWI/SNF complex-deficient tumor with confirmed biallelic SMARCA4 inactivation. : A 75-year-old man presented with a one-week history of a rapidly enlarging exophytic erythematous peri-implant gingival mass in the right posterior mandible (region 44-47). Incisional biopsy demonstrated an undifferentiated high-grade tumor with epithelioid, plasmablastoid, and focally rhabdoid morphology with necrosis. Immunohistochemistry showed complete loss of BRG1 (SMARCA4) with retained INI1 (SMARCB1), EMA positivity, Ki-67 of approximately 100%, and negativity across all lineage-specific markers (hematolymphoid, epithelial, melanocytic, endothelial, squamous). Comprehensive next-generation sequencing (Oncomine Comprehensive Assay Plus) confirmed biallelic SMARCA4 inactivation via a truncating nonsense mutation (p.Trp1346Ter; VAF 73.85%) combined with copy number loss, establishing the molecular mechanism underlying BRG1 protein loss. Co-occurring alterations included homozygous CDKN2A/CDKN2B deletion, MTAP loss (9p21.3), clonal TP53 and KEAP1 mutations, and intermediate-high tumor mutational burden (13.3 mutations/Mb) with microsatellite stability. The patient initiated carboplatin-paclitaxel and achieved a partial response at one month with further shrinkage by four months. This case illustrates a rare oral cavity manifestation of SWI/SNF complex deficiency arising in a peri-implant location, with a diagnostic workup that required integration of immunohistochemistry and molecular profiling for definitive characterization. The MTAP deletion co-occurring with homozygous CDKN2A/B loss identifies a potentially actionable synthetic lethal vulnerability to MAT2A and PRMT5 inhibitors currently under clinical investigation. An occult primary site could not be fully excluded due to absence of a dedicated staging workup. : Rapidly enlarging peri-implant gingival masses should prompt timely biopsy and SWI/SNF marker testing when histology is high-grade and lineage-ambiguous. NGS-based molecular profiling confirms diagnosis, elucidates mechanism, and reveals actionable targets in this rare tumor class. - Source: PubMed
Publication date: 2026/06/04
Ohayon HaimHija AhmadBilder AmirCapucha TalAkrish SharonWolff AmirEmodi Omri - Malignant transformation in meningiomas remains an undercharacterized phenomenon, with scarce long-term evidence delineating its incidence, outcomes, and molecular drivers. - Source: PubMed
Publication date: 2026/06/10
Lucifero Alice GiottaBossi FrancescoKhiralla AmalAlsamman WihadKayssi Abdel RaoufAl-Mefty Ossama - Inactivation of the SWI/SNF complex is a hallmark of multiple human cancers. Here, we showed that SMARCB1 deficient cells, including highly aggressive pediatric malignant rhabdoid tumors (MRTs), display aberrant H3K27ac and H3K27me3 dynamics that confer marked sensitivity to the KDM6A/B inhibitor GSK-J4. This vulnerability was absent in cancers harboring mutations in most other SWI/SNF components; sensitivity was associated with elevated basal autophagy and heightened susceptibility to endoplasmic reticulum stress and the integrated stress response triggered by GSK-J4. Restoration of SMARCB1 expression induced senescence, decreased autophagic flux, and abrogated GSK-J4 sensitivity, while also promoting vascular remodeling required for tumor adaptation under stress. In patient derived orthotopic xenograft models from MRT patients, GSK-J4 treatment robustly suppressed tumor growth. These findings identify a specific dependency of SMARCB1-mutant cancers on H3K27 demethylase activity and underscore the therapeutic potential of targeting this pathway in SWI/SNF deficient tumors. - Source: PubMed
Publication date: 2026/06/10
Vilarrubi AndreaGuillén GabrielaLiu XiaoyuNavajas-Chocarro PabloMorillas Juan MMartínez-Romero AnabelDiaz Cristina APros EvaAltemir-Hervas EvaEzzaanouni AbirFernández-Serrano MirandaRoué GaëlGómez AntonioCastillo Sandra DVidal AugustCarretero JuliánMartínez-Iniesta MariaSoriano AroaMoreno LucasVillanueva AlbertoSanchez-Cespedes MontseRomero Octavio A - Malignant rhabdoid tumor (MRT) is a highly aggressive pediatric neoplasm defined by SMARCB1/INI1 loss, and primary orbital involvement is rare. - Source: PubMed
Publication date: 2026/06/10
Jia HongqinCai RongrongBi Yingwen