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)
- Loss of expression of TTF1 and PAX8 in primary thyroid malignancies raises concerns for metastatic disease in addition to a high-grade primary tumor. Precise distinction is critical, as treatment strategies differ. Herein, we present the case of a 74-year-old man with a right-sided neck swelling, and change in voice for 2 months. Clinically, a 6 cm restricted mobility mass involving thyroid was detected, which on CT scan showed abutment of trachea and esophagus, along with right cervical and upper-mediastinal lymphadenopathy.Biopsies from right thyroid lobe and right supraclavicular node showed an infiltrative carcinoma in nests and cords, a distinct squamoid appearance, focal rhabdoid morphology, extensive necrosis, and a desmoplastic stroma. Overt anaplasia was absent. Immunohistochemically, the tumor was positive for cytokeratins; negative for PAX8, TTF1, CK20, p63, p40, CDX2, SOX10, AR and synaptophysin; p53 showed wild-type staining. Further evaluation revealed retained SMARCB1 and complete loss of SMARCA4 (BRG1) expression in tumor cells. Lack of thyroid lineage markers prompted molecular profiling, and NGS revealed Pathogenic mutations in exon 3 of NRAS gene and exon 11 of BRAF gene (non BRAF v600E), consistent with a follicular thyroid carcinoma profile. Thus, a diagnosis of anaplastic thyroid carcinoma with SMARCA4 loss; likely arising from dedifferentiation of a follicular thyroid carcinoma, was made. The patient is on palliative chemotherapy, with progressive disease.SMARCA4-deficient carcinomas occur at various sites, de novo or as dedifferentiated carcinomas; hitherto unreported in thyroid. This case highlights the importance of integrating morphology, immunohistochemistry, and molecular testing in aggressive thyroid-associated carcinomas, with implications for diagnosis, prognostication, and targeted therapy. - Source: PubMed
Publication date: 2026/09/01
Naik KhushiMittal NehaKarnik NupurJanu AmitPuranik Ameya DVaish RichaShah MinitNoronha VinitaPrabhash Kumar - The recent introduction of "molecularly defined renal cell carcinomas" in the World Health Organization classification has significantly expanded the diagnostic spectrum of renal neoplasia, highlighting entities characterized by specific genetic alterations with potential clinical and therapeutic relevance. However, the recognition of these tumors in routine practice remains challenging due to overlapping morphological features and variable access to molecular testing. In this context, immunohistochemistry (IHC) has emerged as a practical and widely available tool that can act as a surrogate for underlying molecular alterations. Depending on the biological context, IHC may reflect genetic events either through protein overexpression, as in fusion-driven tumors, or through loss of expression associated with gene inactivation in metabolically or chromatin remodeling-deficient neoplasms. Accordingly, IHC plays a central role as a screening and triage method within the diagnostic workflow of these entities. Overall, IHC remains an indispensable component in the evaluation of molecularly defined renal cell carcinomas, but its optimal use requires integration with morphological assessment and, in most cases, confirmatory molecular testing. The aim of this review is to provide a comprehensive and evidence-based overview of the main immunohistochemical surrogates used in molecularly defined renal cell carcinomas, including TFE3-, TFEB-, and ALK-rearranged tumors, as well as SDH-, FH-, and SMARCB1-deficient neoplasms, highlighting their diagnostic applications, strengths, pitfalls, and role within an integrated diagnostic workflow. For each marker, the biological rationale, expected staining patterns, diagnostic applications, and major pitfalls are discussed, with particular emphasis on variability across studies and technical limitations. - Source: PubMed
Publication date: 2026/08/17
Mazzucchelli RobertaZanelli MagdaZizzo MaurizioPalicelli AndreaSanguedolce Francesca - Epithelioid sarcoma (EPS) is an ultra-rare malignant mesenchymal neoplasm of uncertain differentiation that comprises two distinct clinicopathological subtypes: classic and proximal. Classic EPS most commonly occurs in the distal upper extremity of adolescents and young adults, whereas proximal-type EPS most often affects the truncal regions of young to middle-aged adults. Both classic and proximal-type EPSs exhibit aggressive clinical behavior, including a higher risk of local recurrence and regional lymph node or distant metastasis. Histologically, classic EPS is characterized by irregular nodules composed of epithelioid and spindled cells, while proximal-type EPS consists of multinodular distributions and sheets of large polygonal cells. EPS has a distinctive immunoprofile with characteristic expression of cytokeratins and epithelial membrane antigen. Loss of nuclear expression of SMARCB1 protein occurs in the vast majority of cases. Moreover, homozygous deletions have also been observed in both subtypes. Surgery is the mainstay treatment approach for localized EPS. Systemic treatment options for metastatic or unresectable locally advanced disease are very limited. The withdrawal of tazemetostat has created a significant gap in available treatment options. In this review, we provide an overview of the current knowledge on the clinical and radiological features, histopathology, immunohistochemistry, pathogenesis, and management of EPS. - Source: PubMed
Publication date: 2026/08/21
Nishio JunNakayama ShizuhideAoki Mikiko - SMARCB1-deficient renal medullary carcinoma (RMC) is an ultra-rare, lethal malignancy refractory to therapies approved for other renal cell carcinomas, and its rarity makes randomized trials logistically unfeasible. We investigated whether wild-type epidermal growth factor receptor (EGFR) is a therapeutically actionable dependency in RMC and translated this insight into a deployable clinical regimen. - Source: PubMed
Publication date: 2026/08/21
Zacharias Niki MRupe Eric SChen XinyueKotecha Ritesh RRieke Damian TMcGregor Bradley APesquera PedroYu ZhiyuanGrover AbhaDaw Najat CWang EmilyChan Sze Wah SamuelDouglas-Lindsay DorotheaFan Alice CKnoche Eric MKyriakopoulos Christos ELalani Aly-Khan AMantia Charlene MMerla AmartejVoss Martin HPfanzelter NicklasRamakrishna SnehaReaume Neil MTang TianyiIngram Davis RShamsutdinova DianaWani Khalida MWang Wei-LienLazar Alexander JSheth Rahul ARao PriyaGrimm Sandra LCoarfa CristianHe RongQian JingDuan FeiBisht DeepaChauhan Pankaj KPerelli LuigiGenovese GiannicolaYang LiuqingLin ChunruKaram Jose ALa Posta LudovicaDondossola EleonoraBasar RafetUprety NadimaRezvani KatayounGao JianjunWang LinghuaSolis Soto Luisa MLim BoraTannir Nizar MKarki MenukaMsaouel Pavlos - ObjectiveThis study aims to describe the clinical characteristics, multimodal management, and outcomes of SMARCB1 (INI-1)-deficient sinonasal carcinoma (SDSC) within a single-institution cohort.MethodsA retrospective descriptive study of 12 SDSC patients diagnosed between March 2019 and December 2024 was conducted. All patients received multimodal therapy, including surgery, radiotherapy, chemotherapy, and immunotherapy. Clinical outcomes evaluated included overall survival (OS), progression-free survival (PFS), and the response to neoadjuvant treatment.ResultsThe cohort consisted of 10 males (83%) and 2 females (17%), with a mean age of 37 years (range: 23-63). The ethmoid sinus was the most frequently involved site (7/12, 58%), and 10 patients (83%) presented with locally advanced T4 disease. Notably, immunotherapy (PD-1 blockade) was universally integrated into the multimodal continuum for all 12 patients at various disease stages. Among the nine patients who received neoadjuvant therapy, three (3/9) achieved an objective response, and all nine patients (9/9) achieved disease control prior to local consolidation. With a median follow-up of 30 months (range: 4-50), the median OS was 41 months. The 1-, 2-, 3-, and 4-year OS rates were 83%, 83%, 66%, and 22%, respectively. The median PFS was 34 months, with 1-, 2-, 3-, and 4-year PFS rates of 75%, 64%, 43%, and 43%, respectively.ConclusionOur findings suggest that integrating PD-1 blockade into multimodal treatment regimens is feasible and shows promising potential for disease control in SDSC. This descriptive series provides practical reference data and highlights a potential therapeutic avenue for future research. - Source: PubMed
Publication date: 2026/08/21
Wen ZijunLiu LiZhou HaierZhao ZhengLiao Lieqiang