SMARCB1 Isoform B
- Known as:
- SMARCB1 Isoform B
- Catalog number:
- ARP34172_P050
- Product Quantity:
- 50 µg
- Category:
- -
- Supplier:
- ACR
- Gene target:
- SMARCB1 Isoform
Related genes to: SMARCB1 Isoform B
- 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 Isoform B
(Biotin Conjugates) Phospho-Slingshot 1 isoform 1 antibodies Immunogen: peptide Host: Rabbit(FITC-conjugates) Phospho-Slingshot 1 isoform 1 antibodies Immunogen: peptide Host: Rabbit14-3-3 Isoform Panel, Rabbit anti-;14-3-3 protein c-isoform antibody Host rabbit14-3-3 protein c-isoform antibody Ab host: Rabbit14_3_3 Isoform Panel, Rabbit anti_;20 kDa myosin light chain,Homo sapiens,Human,LC20,MLC2,MLC-2C,MRLC1,MYL9,Myosin regulatory light chain 2, smooth muscle isoform,Myosin regulatory light chain 9,Myosin regulatory light chain MRLC1,Myos20 kDa myosin light chain,LC20,MYL9,Myosin regulatory light chain 2, smooth muscle isoform,Myosin regulatory light chain 9,Myosin regulatory light polypeptide 9,MYRL2,Pig,Sus scrofa3_hydroxyisobutyryl_Coenzyme A hydrolase isoform 24-alpha-hydroxy-tetrahydropterin dehydratase 2,Chicken,DCoH-alpha,DcoH-like protein DCoHm,DCOHM,Gallus gallus,Hepatocyte nuclear factor 1a dimerization cofactor isoform,PCBD2,PHS 2,Pterin-4-alpha-carb40S ribosomal protein S4, X isoform,CCG2,Homo sapiens,Human,RPS4,RPS4X,SCAR,SCR10,Single copy abundant mRNA protein40S ribosomal protein S4, X isoform,Mouse,Mus musculus,Rps4,Rps4x40S ribosomal protein S4, X isoform,Rat,Rattus norvegicus,Rps4,Rps4x40S ribosomal protein S4, Y isoform 1,Homo sapiens,Human,PRO2646,RPS4Y,RPS4Y140S ribosomal protein S4, Y isoform 2,Homo sapiens,Human,RPS4Y2,RPS4Y2P Related articles to: SMARCB1 Isoform B
- Poorly differentiated chordoma (PDC) is an exceptionally rare bone tumor with aggressive behavior and early recurrence. Evidence on the role and integration of chemotherapy remains limited. We aimed to share our institutional management experience and identify clinical prognostic factors in PDC. - Source: PubMed
Publication date: 2026/05/21
Xing JingyuZhang HaoYuan ZijieCao XinghaoTan TaoHu JinboZhi WenlanZhao ChenglongYang Cheng - Deficiency of SWI/SNF proteins, particularly BRG1 (SMARCA4) and INI1 (SMARCB1), has frequently been associated with poor clinical outcomes in dedifferentiated/undifferentiated endometrial carcinoma (DDEC/UDEC). However, the prognostic significance of BRM (SMARCA2) remains unclear. Additionally, although the TCGA classification predicts outcomes in endometrioid adenocarcinoma, its prognostic value in DDEC/UDEC is still unproven. In this study, 71 DDEC/UDEC cases were assessed for the expression of BRG1, BRM, INI1 and ARID1A. BRG1, BRM, INI1 and ARID1A deficiency were observed in 36% (26/71), 55% (27/49), 8% (6/69), 55% (19/34) of cases, respectively. BRG1-deficiency, and BRG1 or INI1-deficiency were both associated with poorer overall survival (OS) (P = 0.048, P = 0.013, respectively). Only BRG1 or INI1-deficiency was significantly correlated with worse disease-free survival (DFS) (P = 0.039). No significant differences in either DFS or OS were observed between patients with isolated loss of BRM or INI1 expression and those with intact expression. Genetic alterations in 31 cases predominantly involved the PI3K-AKT-MTOR pathway. TCGA molecular subtyping showed no significant differences in OS (P = 0.488) or DFS (P = 0.425) among the molecular subtypes. However, patients with concurrent microsatellite instability-high (MSI-H) and PIK3CA mutation exhibited more favorable OS (P = 0.021) and DFS (P = 0.012). Therefore, our research shows that BRG1 or INI1 deficiency, especially BRG1 deficiency, predicts a poorer prognosis in patients with DDEC/UDEC. Furthermore, other integrated molecular classification strategies--such as the combination of MSI-H status and PIK3CA mutation--may provide a novel prognostic stratification approach for this aggressive tumor entity. - Source: PubMed
Publication date: 2026/05/19
Qi YuYao QianlanXu YuyinYu LinTu XiaoyuCheng YufanGe HuijuanTang ShaoxianZhou XiaoyanYang WentaoBi Rui - Peripheral T-cell lymphoma, not otherwise specified (PTCL, NOS) rarely occurs in pediatric and young adult populations, where little is known about its clinicopathologic and molecular features. We characterized 16 cases of PTCL, NOS diagnosed in patients ≤21 years old. Seven (44%) cases demonstrated SMARCB1/INI1 loss by immunohistochemistry and SMARCB1/INI1 alterations by next-generation sequencing, including biallelic SMARCB1/INI1 deletion (n=4), stop codon variant with 1-copy deletion (n=1) or copy-neutral loss-of-heterozygosity (CN-LOH; n=1), and frameshift variant (n=1). One case demonstrated biallelic SMARCE1 alterations (a nonsense variant and CN-LOH), which, to our knowledge, has not been previously described in a hematopoietic neoplasm. The SWI/SNF-intact group harbored pathogenic TET2, PTEN, EZH2, or TP53 variants. CDKN2A deletions were present in 3/7 SWI/SNF-deficient and 0/4 SWI/SNF-intact cases. 22q11.2 alterations were present on karyotype of 2/3 SMARCB1/INI1-deficient cases. SWI/SNF-deficiency was associated with intermediate-to-large cell cytomorphology, frequent mitotic (88%; p=0.041) and apoptotic (88%) activity, Reed-Sternberg-like cells (63%), necrosis (50%), and fibrosis (50%). All cases expressed CD45 and CD43 at initial diagnosis. SWI/SNF-deficient cases predominantly demonstrated a CD4+/CD8-, TCRab, and PTCL-GATA3 phenotype, whereas SWI/SNF-intact cases predominantly demonstrated a CD8+/CD4-, TCRgd, and PTCL-TBX21 phenotype. A PTCL-TBX21 phenotype was more common in SWI/SNF-intact than SWI/SNF-deficient cases (p=0.041). Cytotoxic markers were expressed in 71% of SWI/SNF-deficient and 88% of SWI/SNF-intact cases. Decreased or absent CD3 expression characterized 88% of SWI/SNF-deficient and 13% of SWI/SNF-intact cases (p=0.01). 63% of SWI/SNF-deficient cases demonstrated decreased/absent expression of ≥3 pan-T-cell antigens, compared to 13% of SWI/SNF-intact cases. Treatment was heterogeneous. Primary treatment failure or relapse occurred in 4/8 SWI/SNF-deficient and 4/7 SWI/SNF-intact cases. The median OS and EFS were 48.7 and 47.5 months for the SWI/SNF-deficient, and 16.4 and 8.9 months for the SWI/SNF-intact groups, respectively (p=NS). Death due to disease or therapy-related complications occurred in 4/8 (50%) cases in the SWI/SNF-deficient group and 6/7 (86%) of cases in the SWI/SNF-intact group. Our findings expand the knowledge of the clinicopathologic and molecular features of pediatric PTCL and highlight SWI/SNF-deficient T-cell lymphoma as a biologically distinct type of PTCL that is associated with characteristic clinicopathologic features. - Source: PubMed
Publication date: 2026/05/19
Bledsoe Jacob RFerry Judith ALi JingweiSassoon AaronStonhill Miekan ASiegele BradfordLiang XiayuanDalton JustinMochel Mark CIvashkevich YanaJohari VanditaSadigh SamSelove WilliamSood SadhikaWard NicholasWoda BruceDegar BarbaraFeraco Angela MRowe JaredDavies KimberlyAl-Ibraheemi AlyaaAmador CatalinaKovach Alexandra EFleming Mark DHarris Marian HTsai Harrison K - Renal cell carcinoma (RCC) associated with BRCA2 mutation is an extremely rare but increasingly recognized tumor type with characteristic but variable morphological features and aggressive behavior. We report a new case of high‑grade RCC harboring a somatic BRCA2 mutation in a 69‑year‑old male presenting with painless gross hematuria. The tumor exhibited a complex admixture of solid papillary/alveolar, cribriform, and tubulocystic architectures with prominent eosinophilic nucleoli. A biphasic pattern was observed, with central nests of more bland clear cells forming rosette‑like structures around hyaline basement membrane material, a finding reminiscent of TFEB‑altered RCC. Immunohistochemically, the tumor showed a nonspecific immunophenotype with expression of PAX8, CD10, and vimentin, while other RCC‑associated markers were negative. SMARCB1/INI1, SDHB, and FH expression were retained. Targeted next‑generation sequencing confirmed a somatic BRCA2 truncating mutation and absence of alterations in VHL, MET, TSC1/2/MTOR, SDHx, FH, or MiTF genes. A review of all five previously reported BRCA2‑associated RCCs revealed that all six reported cases (including ours) shared certain features: mixed papillary and solid architecture, high‑grade cytology with prominent nucleoli, and absence of other RCC‑defining molecular drivers. Our case not only reinforces the previously reported features but also expands the morphological spectrum of BRCA2‑associated RCC, providing further evidence that this may represent a distinct subtype of RCC. - Source: PubMed
Publication date: 2026/05/19
Wang YingjingYin XiaonaXia ChengqingZhao Ming - Lung cancer with SMARCA4 deficiency has a high degree of malignancy and a low degree of differentiation. It is a newly discovered type of tumor closely related to gene mutations. The present study aimed to clarify the molecular mutation characteristics of -deficient lung cancer using next-generation sequencing (NGS). NGS sequencing was conducted to analyze the gene expression profile of 15 patients with deficient lung cancer, with positive or negative EGFR expression, and the association between gene mutation sites and expression was analyzed. The pathological characteristics of -deficient lung cancer were analyzed using immunohistochemistry. The likelihood of positivity for the programmed cell death 1 ligand 1 protein was low, and there were no instances of positivity for anaplastic lymphoma kinase protein expression. Approximately 50% of Ki67-positive expression regions were present. The BOI-related E3 ubiquitin-protein ligase 1 protein encoded by the gene was not expressed; however, the INI1 protein encoded by was partially positive (6/15), which showed that the expression of INI1 was not affected by . The mutation types included c.2729C>T (p.T910M), c.3634_3636del (p.E1212del), c.3574C>T (p.R1192C), and c.3733G>A (p.A1245T). and mutations were detected in nine patients, mutation was detected in seven patients, mutation was detected in six patients and mutation was detected in five patients. The mutated genes were more resistant to the EGFR tyrosine kinase inhibitor. In conclusion, patients with -deficient lung cancer have distinct immunohistochemical characteristics, and has been implicated in the incidence and progression of tumors through different mutation mechanisms. - Source: PubMed
Publication date: 2026/05/05
Yang FeichengYang YuzhongChen ZhihongLi YanchunSong Yinghui