SMARCB1 Antibody (N-term) Blocking Peptide
- Known as:
- SMARCB1 Antibody (N-terminus) Blocking Peptide
- Catalog number:
- BP14353a
- Product Quantity:
- 2
- Category:
- -
- Supplier:
- Abgen
- Gene target:
- SMARCB1 Antibody (N-term) Blocking Peptide
Related genes to: SMARCB1 Antibody (N-term) 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 Antibody (N-term) Blocking Peptide
Related articles to: SMARCB1 Antibody (N-term) Blocking Peptide
- The value of [F]FDG PET/CT imaging in the management of -deficient renal medullary carcinoma (RMC), a rare and aggressive type of kidney cancer, has not been established. We sought to determine the utility of [F]FDG PET/CT findings for the evaluation of disease burden and treatment planning in patients with RMC. Using an institutional database, we identified patients with RMC who underwent [F]FDG PET/CT scans as part of clinical care between 2016 and 2025. When available, baseline [F]FDG PET/CT images were used; otherwise, the earliest available follow-up scan performed because of concern of recurrence or progression was included. For all scans, sites of abnormal [F]FDG uptake were assessed, the SUV of the most avid site was quantified, and tumor-to-normal tissue ratios (TNRs) were calculated. PET/CT findings were compared with anatomic imaging (CT/MRI-based) performed within 30 d. Instances in which PET/CT findings altered treatment were recorded. On PET, 48 of 49 patients had clearly [F]FDG-avid disease. The single patient without [F]FDG-avid lesions also lacked evidence of disease on anatomic imaging. Of the 23 patients who received a baseline PET/CT scan for staging purposes, 15 had intact renal primary tumors, and all tumors were [F]FDG-avid (median SUV, 13.4; range, 9.5-23.5; median TNR blood, 10.7; range, 4.2-16.6). Ten patients were imaged during therapy, and 16 underwent imaging after progression or before the start of a new treatment. Forty-three patients had [F]FDG-avid nodal metastatic disease (median SUV, 8.9; range, 1.8-27.0). Extranodal disease was observed in 36 patients, most commonly in the lungs ( = 24; median SUV, 5.8; range, 1.7-17.5) and bones ( = 19; median SUV,10.7; range, 3.7-24.8). In 31 patients, [F]FDG PET/CT identified additional lesions not detected on anatomic imaging, predominantly involving bones ( = 18), lymph nodes ( = 13), and soft tissues ( = 11). These additional findings led to a change in clinical management for 10 (21%) of 48 patients with active disease. In contrast, no lesions were identified on anatomic imaging that were not apparent on PET/CT scans. RMC is a highly [F]FDG-avid malignancy. [F]FDG PET frequently detects additional metastatic sites missed by conventional anatomic imaging, facilitating disease extent assessment and optimizing treatment strategy in patients with RMC. - Source: PubMed
Publication date: 2026/06/18
Krebs SimoneSalem Ahmed ENguyen Nghi CSheth Rahul AKaram Jose ADaw Najat CTang ChadTannir Nizar MMsaouel PavlosSurasi Devaki Shilpa - Chordoma in children is rare and inadequately characterized. This study aims to provide a comprehensive characterization of the clinicopathological and (epi)genetic features of chordomas in children, particularly the poorly differentiated chordomas (PDC). We established a cohort of seven PDCs and 28 conventional chordomas (CC). Besides characterizing the clinical and histopathological features, we performed comprehensive immunohistochemical staining for markers enabling diagnosis of chordoma and members of the sonic hedgehog signalling pathway. Using DNA methylation analysis, we characterized the molecular subtypes among chordomas in children and the SMARCB1 (INI1)-deficient tumours, which was further complemented by fluorescence in situ hybridization and targeted exome sequencing. Paediatric patients with PDC showed poorer prognosis compared with paediatric patients with CC. PDC tumours occurred more frequently in younger children and typically located at the clivus. Histologically, PDC tumours exhibited large polygonal/epithelioid cells or chubby spindle cells, with positive staining for cytokeratins and brachyury, but loss of expression of SMARCB1 (INI1) protein, and a high Ki-67 index. PDC samples showed promiscuous staining of sonic hedgehog pathway members, which contrasts the homogenous staining of sonic hedgehog pathway members in CC samples. Unsupervised hierarchical clustering and t-distributed stochastic neighbour embedding analyses of DNA methylation data showed that paediatric PDCs formed a distinct methylation cluster in comparison with the samples of CC, atypical teratoid/rhabdoid tumours and bone fide extracranial proximal epithelioid sarcoma. Whereas PDCs harboured relatively stable karyotype, frequent chromosomal gains or losses were observed in CCs. Mutational profiling identified different sets of genes in PDCs versus CCs. Loss of SMARCB1 (INI1) expression in PDCs was predominantly due to locus deletion. In summary, our findings support the differential diagnosis between paediatric PDC and CC. Further, our findings suggest that besides distinct methylome profiles, paediatric PDC and CC are likely driven by distinct pathogenic pathways. - Source: PubMed
Publication date: 2026/06/03
Duan ZejunFeng JingWang HaidanYang JunjieMa ZhongHan SongZhu MingwangFan XiaolongQi Xueling - - 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