SMARCB1 antibody - N-terminal region (ARP34171_P050)
- Known as:
- SMARCB1 (anti-) - N-terminal region (ARP34171_P050)
- Catalog number:
- arp34171_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- SMARCB1 antibody - N-terminal region (ARP34171_P050)
Related genes to: SMARCB1 antibody - N-terminal region (ARP34171_P050)
- 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-terminal region (ARP34171_P050)
Related articles to: SMARCB1 antibody - N-terminal region (ARP34171_P050)
- Rhabdoid tumors (RTs) are highly aggressive cancers driven by biallelic mutation of , a core subunit of the BAF (SWI/SNF) complex. We found that -deficient tumors have a defect in the microhomology-mediated end joining (MMEJ) pathway, and SMARCB1 is essential for maintaining the protein level of the core MMEJ protein, DNA Polymerase theta (PolΘ). Mechanistically, SMARCB1 facilitates the nuclear export of the mRNA through its interaction with the nuclear pore complex. Interestingly, loss of MMEJ in RT cells leads to a compensatory activation of, and a hyper-dependence on, the Fanconi Anemia (FA)/BRCA pathway. Notably, degraders of RBM39, a splicing modulator, show strong antitumor efficacy in RT models in vitro and in vivo by disrupting FA/BRCA pathway. SMARCB1 and other cBAF/pBAF components are important for maintenance of MMEJ activity and PolΘ protein level, suggesting that BAF-deficient cancers more broadly may be treated by targeted inhibition of the FA/BRCA pathway. - Source: PubMed
Publication date: 2026/08/14
Zhu GuangliAsada ShuheiNguyen HuyHirohashi YunaSun LifangSaravanapavan AvneeshRahmani ErfanHrynashka MaryiaMukkavalli SirishaBatish MonaShapiro Geoffrey ID'Andrea Alan D - -mutant primary intracranial sarcoma (-mutant PIS) is a rare and aggressive central nervous system (CNS) malignancy primarily affecting pediatric patients. We report the case of a 5.5-year-old boy who presented with non-specific prodromal symptoms, including recurrent dizziness and progressive vomiting. Brain neuroimaging revealed a cystic-solid mass in the frontal lobe, characterized by heterogeneous contrast enhancement, significant perilesional edema, and intratumoral hemorrhage. Histopathological examination of the tumor demonstrated marked cellular pleomorphism, atypical mitoses, and distinctive intracytoplasmic eosinophilic globules. Next-generation sequencing confirmed the presence of the canonical hotspot p.E1705K alteration, along with concurrent pathogenic mutations in , , and . Additionally, somatic allelic loss due to loss of heterozygosity was identified. Due to its insidious clinical presentation and overlapping morphological characteristics, -mutant PIS is often challenging to diagnose accurately, and no standardized therapeutic guidelines currently exist. The patient underwent subtotal surgical resection followed by adjuvant chemoradiotherapy. However, intracranial disease progression and the development of new metastatic lesions were observed during long-term follow-up. This case underscores the critical importance of prompt and definitive molecular diagnosis, individualized multidisciplinary treatment approaches, and extended regular surveillance for this high-grade malignancy. It provides valuable real-world evidence that can inform the clinical management of similar rare -mutant PIS cases. - Source: PubMed
Publication date: 2026/07/30
Wu HongfangZhou JunWang MengzeLv LingPu ShuangqiongXie Yucheng - Chordoma is a rare notochordal malignancy of the axial skeleton, and distant cutaneous metastasis is among its rarest manifestations-an under-recognised mimic of benign and malignant skin tumours that often presents with an incomplete clinical history. - Source: PubMed
Publication date: 2026/07/27
Neamțu Andreea-AdrianaChioibaș RaulGoldenberg AliciaMaghiar LauraBarna RobertIftode AndradaGrecu TitusTaban SorinaAndea Aleodor - Population-based genomic newborn screening identifying newborns at risk for early-onset cancers has not been evaluated. Here, within a Michigan birth cohort (1987-2020), we identify all children developing a solid or central nervous system malignancy by age 8 years (n = 1948). We perform targeted sequencing of 11 cancer predisposition genes using archived newborn dried blood spot DNA. We find pathogenic or likely-pathogenic germline variants (P/LP) in 6.8% of cases (n = 132): RB1 (n = 69), TP53 (n = 24), SMARCB1 (n = 8), WT1 (n = 7), RET (n = 6), SUFU (n = 6), PTCH1 (n = 4), DICER1 (n = 4), APC (n = 3) and PHOX2B (n = 1). We show approximately 1/27,000 newborns develop an early-onset malignancy with an associated pathogenic or likely-pathogenic variant. Germline variant prevalence is 100% in medullary thyroid carcinoma, 40% in retinoblastoma, and 11-30% across five additional diagnoses, with strong gene-tumor specificity (p < 0.001). P/LP variants are rare in comparison datasets from healthy newborns and gnomAD. Our data support newborn screening for selected cancer-risk genes. - Source: PubMed
Publication date: 2026/08/12
Diller LisaCherkerzian SaraCinelli Abigail EHousman DavidGillani RiazHamilton Kayla VYeh Jennifer MBhattacharjee ArindamParad Richard B - SMARCB1/INI1-deficient peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS), is a rare entity with limited reported cases. We present two additional cases in young women presenting with aggressive, treatment-refractory PTCL-NOS, and further characterizing their clinicopathologic and molecular features. Both cases demonstrated a monotonous proliferation of medium-sized atypical αβ T cells with clear cytoplasm, dual CD4/CD8 negativity, aberrant CD117 expression, cytotoxic and PTCL-TBX21 phenotype, and loss of SMARCB1/INI1 expression. Molecular analyses revealed copy-neutral loss of heterozygosity and two-copy/homozygous deletion involving the SMARCB1 gene, supporting a heterogeneous genetic basis for SMARCB1 inactivation. Clinically, both patients exhibited rapidly progressive disease with poor response to multi-modality treatment, highlighting the aggressive nature of this tumor. Our findings are consistent with prior reports, suggesting that SMARCB1/INI1-deficient PTCL-NOS preferentially affects children and young adults and demonstrates distinctive morphologic and molecular features that may facilitate recognition. Emerging evidence also indicates that SMARCB1/INI1 loss may confer sensitivity to histone deacetylase inhibitors (HDACi), supporting their potential therapeutic role in this tumor. Given the dismal outcomes associated with this entity, assessment of SMARCB1/INI1 expression should be considered in younger patients with PTCL-NOS displaying these characteristic features. Continued accumulation of cases with integrated molecular profiling, along with prospective evaluation of HDACi-based therapies, will be essential to better define disease biology and establish evidence-based treatment strategies for this aggressive lymphoma. - Source: PubMed
Publication date: 2026/08/11
Lee Zhao Jian OswaldTurner Gareth DhChan Hian Li EstherMacPherson Sean AngusChang Kenneth Tou EnYong Min HweeTan Soo YongWang ShiNg Siok-Bian