SMARCB1 Pre-design Chimera RNAi
- Known as:
- SMARCB1 Pre-design Chimera RNAi
- Catalog number:
- H00006598-R02
- Product Quantity:
- 20 nmol
- Category:
- -
- Supplier:
- Abno
- Gene target:
- SMARCB1 Pre-design Chimera RNAi
Related genes to: SMARCB1 Pre-design Chimera RNAi
- 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 Pre-design Chimera RNAi
Related articles to: SMARCB1 Pre-design Chimera RNAi
- Optic nerve sheath meningiomas (ONSMs) occupy a unique intersection between neuro-oncology and genetics. Although most cases arise in middle-aged women as solitary, slow-growing tumors, pediatric onset, bilateral disease, or rapid progression frequently signal an underlying germline alteration, most often in neurofibromatosis type II (NF2). This narrative review synthesizes the literature through May 2025, examining clinical behavior, imaging, pathology, hereditary syndromes, and the molecular drivers of ONSMs, with particular emphasis on NF2, SMARCB1, TRAF7, and recent copy-number and methylation studies. Classic sporadic ONSMs seldom exhibit loss of chromosome 22q. However, somatic alterations and occasional changes in chromatin-remodeling genes still converge on Hippo pathway output (Yes-associated protein/transcriptional coactivator with PDZ-binding motif (YAP/TAZ)-driven transcriptional activity), phosphoinositide 3-kinase-protein kinase B (PI3K-AKT), and MAPK signaling. Emerging multi-omics data indicate that optic nerve tumors represent a molecularly distinct subset within the meningioma spectrum. This finding may explain the associated characteristically indolent growth and favorable response to conformal radiotherapy. Genotyping refines risk stratification: early testing is warranted in children and in bilateral or atypical presentations, enabling timely surveillance and genetic counseling. While fractionated stereotactic radiotherapy remains the mainstay of therapy, pathway-targeted and gene-replacement strategies developed for -associated tumors may soon expand therapeutic options. Given the site-specific diagnostic and functional constraints of peri-optic tumors, larger collaborative cohorts and genotype-guided trials are essential to translate these biological insights into precision care for patients with ONSMs. - Source: PubMed
Zeppieri MarcoD'Esposito FabianaGagliano CaterinaBattista MarcoBarboni PieroNicolosi Simonetta GaiaCapobianco Matteo - Pineal parenchymal tumors (PPTs) are rare central nervous system neoplasms encompassing a histologically diverse group ranging from WHO grade 1 to 4 lesions. This chapter provides a comprehensive review of the epidemiology, clinical presentation, diagnostic workup, histopathological and molecular features, and treatment strategies of PPTs, with emphasis on surgical approaches and prognostic factors.An extensive review of recent literature was performed, incorporating updated WHO 2021 classifications and data from large multicenter cohorts. Particular attention was given to the inclusion of newly recognized tumor types, such as desmoplastic myxoid tumor of the pineal region, SMARCB1-mutant.PPTs present variably by age and histological subtype. Pineocytomas typically occur in adults and have excellent outcomes following gross total resection. Pineoblastomas, the most aggressive form, are predominantly pediatric and carry a high risk of CSF dissemination and poor prognosis without aggressive multimodal therapy. Pineal parenchymal tumors of intermediate differentiation and papillary tumors show variable behavior and benefit from maximal safe resection and selective adjuvant therapy. Surgical management remains the cornerstone of treatment, with the infratentorial supracerebellar approach favored for midline lesions. Endoscopic-assisted techniques are increasingly used for resection and biopsy, particularly in the presence of obstructive hydrocephalus. Endoscopic third ventriculostomy (ETV) offers an effective minimally invasive solution for hydrocephalus management. Prognostic outcomes are strongly influenced by tumor subtype, extent of resection, and use of adjuvant therapy.Conclusions: PPTs require individualized, multidisciplinary management strategies. Gross total resection remains the optimal surgical goal when safe, while the role of adjuvant therapy is determined by tumor type and grade. Future directions include improving the molecular characterization of rare subtypes and refining endoscopic and minimally invasive techniques. Multicenter studies are needed to establish evidence-based treatment protocols and better define prognostic markers. - Source: PubMed
Mandera MarekAntkowiak Lukasz - Myoepithelioma-like tumor of the vulvar region (MELTVR) is a rare SMARCB1-deficient mesenchymal neoplasm of adult women that can mimic malignant vulvar sarcomas, particularly epithelioid sarcoma. Although loss of SMARCB1/INI1 expression is a defining feature, the comprehensive genomic landscape of MELTVR remains poorly characterized. We report two cases of MELTVR and performed integrated histopathologic, immunophenotypic, and molecular analyses, including whole-exome sequencing (WES) with copy number assessment and targeted RNA-based fusion testing using the Archer FusionPlex Sarcoma panel. Histologically, both tumors consisted of relatively uniform epithelioid to short spindle cells in solid nests and cords within focal myxoid stroma, with complete loss of INI1 and positivity for smooth muscle markers and focal ER/EMA expression. Genomic profiling demonstrated a quiet molecular background in both cases, with low tumor mutation burden (0.45 and 1.03 mut/Mb) and no pathogenic SNVs/indels in major cancer-associated genes. One case showed a focal homozygous deletion of the SMARCB1 locus at 22q11.2, whereas the other case exhibited INI1 loss without detectable SMARCB1 mutation or copy number loss, suggesting heterogeneous mechanisms of inactivation. CDKN2A copy number remained neutral in both tumors. No canonical sarcoma-associated gene rearrangements, including EWSR1, FUS, PLAG1, or NR4A3, were identified. Together with a review of previously reported cases, these findings support MELTVR as an SMARCB1-inactivated neoplasm with low genomic complexity and highlight the diagnostic value of NGS-based profiling in excluding malignant mimics and preventing overtreatment. - Source: PubMed
Publication date: 2026/06/26
Yoshida HiroshiKobayashi-Kato MayumiShiraishi KouyaUno MasayaIshikawa Mitsuya - Osteoporosis (OP) is a multifactorial skeletal disorder marked by reduced bone mass and microstructural deterioration. We investigated potential diagnostic biomarkers and immunometabolic targets through integrated bioinformatics and machine learning analysis. - Source: PubMed
Publication date: 2026/06/30
Ding Kai-KaiZhang YuYang NingHou Jing-YiZhu Nai-Qiang - To investigate the clinicopathological and molecular genetic characteristics of SMARCB1-deficient sinonasal adenocarcinoma. A retrospective analysis was performed on 51 cases of poorly differentiated adenocarcinoma, yolk sac tumor, and SMARCB1-deficient carcinoma, diagnosed in the Eye, Ear, Nose and Throat Hospital of Fudan University between January 2016 and December 2024. Four cases of SMARCB1-deficient sinonasal adenocarcinoma were identified. The histological features, immunophenotypes and molecular characteristics were analyzed, and relevant literatures were reviewed. Among the 4 patients, 2 were male and 2 female, with age of 75, 52, 47 and 59 years, respectively. The clinical manifestations included nasal obstruction, epistaxis, and specific symptoms associated with the affected sites. Imaging studies revealed a mass lesion in the nasal cavity and ethmoid sinus, with invasion into surrounding structures. Histologically, the tumor demonstrated glandular, nested, trabecular, and cribriform patterns. The tumor cells displayed moderate to abundant eosinophilic cytoplasm with epithelioid or plasmacytoid features, while a few showed basaloid characteristics. Three cases showed a yolk sac tumor-like differentiation, including case 1 with Schiller-Duval body, case 4 characterized by a cribriform structure, and case 2 consisting of areas of basaloid cells and reticular/microcystic yolk sac tumor-like component. SMARCB1 protein was absent in all cases. SMARCA2 was detected in 3 cases, of which 2 cases (cases 1 and 4) were loss of expression. SMARCA4, ARID1A, and ARID1B proteins were retained. CK7 and CK19 immunoreactivity was variable. CDX2, SALL4 and Glypican-3 were predominantly present in the yolk sac tumor-like region, but not limited to this area. Only case 1 demonstrated focally positive for CK20, whereas S-100 and SOX-10 were negative in all cases. The Ki-67 index was 30% to 50%. Three cases (cases 1, 3 and 4) underwent FISH and next-generation sequencing analyses. Two cases demonstrated SMARCB1 deletion, whereas case 3 was negative. Tumor mutation burden ranged from 0.2 to 3.2 Muts/Mb. Follow-up data were available for 3 cases (excluding case 1), with durations of 29, 20, and 7 months, respectively. Case 2 died, and case 3 and case 4 were alive. SMARCB1-deficient sinonasal adenocarcinoma is a rare tumor, characterized by various degree of glandular differentiation and/or yolk sac tumor-like structures. It should be differentiated from other tumors with similar morphology, particularly intestinal-type and non-intestinal adenocarcinomas as well as yolk sac tumors. To avoid misdiagnosis, SMARCB1 immunohistochemistry should be routinely applied in the diagnosis and differential diagnosis of high-grade sinonasal malignant tumors. - Source: PubMed
Yuan C CLin LHu C Y