SMARCB1 monoclonal antibody (M14), clone 2H1
- Known as:
- SMARCB1 mab (anti-) (M14), clonality 2H1
- Catalog number:
- H00006598-M14
- Product Quantity:
- 100 ug
- Category:
- -
- Supplier:
- Abno
- Gene target:
- SMARCB1 monoclonal antibody (M14) clone 2H1
Related genes to: SMARCB1 monoclonal antibody (M14), clone 2H1
- Gene:
- C2CD4A NIH gene
- Name:
- C2 calcium dependent domain containing 4A
- Previous symbol:
- FAM148A
- Synonyms:
- NLF1
- Chromosome:
- 15q22.2
- Locus Type:
- gene with protein product
- Date approved:
- 2007-10-18
- Date modifiied:
- 2016-06-08
- Gene:
- C2CD4B NIH gene
- Name:
- C2 calcium dependent domain containing 4B
- Previous symbol:
- FAM148B
- Synonyms:
- NLF2
- Chromosome:
- 15q22.2
- Locus Type:
- gene with protein product
- Date approved:
- 2007-10-18
- Date modifiied:
- 2016-06-08
- Gene:
- C2CD4C NIH gene
- Name:
- C2 calcium dependent domain containing 4C
- Previous symbol:
- KIAA1957, FAM148C
- Synonyms:
- NLF3
- Chromosome:
- 19p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-02-12
- Date modifiied:
- 2016-11-11
- Gene:
- C2CD4D NIH gene
- Name:
- C2 calcium dependent domain containing 4D
- Previous symbol:
- -
- Synonyms:
- FAM148D
- Chromosome:
- 1q21.3
- Locus Type:
- gene with protein product
- Date approved:
- 2009-09-28
- Date modifiied:
- 2016-06-08
- Gene:
- CABLES2 NIH gene
- Name:
- Cdk5 and Abl enzyme substrate 2
- Previous symbol:
- C20orf150
- Synonyms:
- dJ908M14.2, ik3-2
- Chromosome:
- 20q13.33
- Locus Type:
- gene with protein product
- Date approved:
- 2001-07-17
- Date modifiied:
- 2019-02-18
Related products to: SMARCB1 monoclonal antibody (M14), clone 2H1
Related articles to: SMARCB1 monoclonal antibody (M14), clone 2H1
- Genetic etiologies of Müllerian aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) remain poorly understood. Identification of patients with monogenic syndromes presenting with Müllerian aplasia may help improve our knowledge of the underlying biology. We investigated a 15-year-old female presenting with primary amenorrhea due to Müllerian aplasia, dysmorphic features, and intellectual disability. Trio whole genome sequencing identified a pathogenic de novo missense variant in NM_003073.5(SMARCB1): c.1096C>T, p.(Arg366Cys) confirming the diagnosis of Coffin-Siris syndrome 3 (OMIM #614608). This patient represents the first molecularly confirmed case of Coffin-Siris syndrome presenting with Müllerian aplasia; however, two previous clinical reports support this potential rare association. Research is needed to further investigate this possible association, determine the prevalence of Müllerian aplasia in adolescent/adult female patients with Coffin-Siris syndrome and whether it may be associated with other BAF (BRG1/BRM-associated factor) complex genes than SMARCB1. Finally, it is unknown how BAF complex dysfunction may be involved in perturbed Müllerian duct development in females. - Source: PubMed
Publication date: 2026/09/28
Bolund Anneli C SVestergaard Esben ThyssenMarinovskij EdvardLildballe Dorte LaunholtBlechingberg JennyHerlin Morten Krogh - SMARCB1-deficient sinonasal carcinoma (SDSC) is a recently characterized and aggressive sinonasal malignancy described predominantly in adults, with only rare reports in patients under 18 years of age and limited radiologic characterization in young children. We present the case of an 8-year-old boy with new-onset vision loss found to have a large, heterogeneously enhancing central skull base mass demonstrating diffusion restriction, internal sheet-like calcification, extensive osseous destruction, and multicompartment skull base extension involving the cavernous sinuses, orbital apices, and internal carotid arteries. The imaging differential diagnosis included rhabdomyosarcoma, esthesioneuroblastoma, poorly differentiated chordoma, craniopharyngioma, germ cell tumor, and NUT carcinoma. Endoscopic biopsy demonstrated complete loss of INI1/SMARCB1 expression on immunohistochemistry, consistent with SMARCB1-deficient sinonasal carcinoma. Despite multimodal therapy including chemotherapy, radiation, immunotherapy, and subtotal resection, the tumor demonstrated progressive local and metastatic disease with subsequent vascular complications including internal carotid artery encasement and subsequent cerebral infarction. This case highlights the aggressive imaging appearance of SDSC in a pediatric patient and underscores the importance of including this entity in the differential diagnosis of destructive pediatric skull base masses to prompt appropriate immunohistochemical evaluation and ensure accurate pathologic classification. - Source: PubMed
Publication date: 2026/09/16
Yoon JonathanAguilera Amanda - Undifferentiated carcinomas with rhabdoid morphology and loss of SMARCB1 (INI1) are rare, highly aggressive neoplasms. In the colorectum, they account for < 1% of cases and carry a poor prognosis. We report a 41-year-old man with congenital hemophilia A who presented with pelvic fullness and altered bowel habits. Imaging revealed a large rectosigmoid mass without distant metastasis. Core needle biopsy suggested a high-grade sarcomatoid malignancy. Following multidisciplinary planning and perioperative factor VIII replacement, owing to progressive symptoms and concern for impending obstruction, the patient underwent low anterior resection. Histopathology showed rhabdoid morphology with complete loss of nuclear INI1 expression, confirming SMARCB1-deficient undifferentiated colorectal carcinoma. The tumor was staged as pT4aN0, with vascular invasion. The patient received adjuvant chemoradiation and remained alive and disease-free at the time of publication. This case highlights an important diagnostic pitfall, as SMARCB1-deficient colorectal carcinoma may closely mimic sarcoma on limited biopsy specimens. Recognition of rhabdoid morphology and incorporation of INI1 immunohistochemistry into the diagnostic workup are essential for establishing the correct diagnosis and guiding multidisciplinary treatment. - Source: PubMed
Publication date: 2026/09/21
Saffar HanaMiri Seyed RouhollahSeyedjavadeyn Seyed ZeynabEsfandbod MohsenDelazar SinaShokry Ramin - Renal cell carcinoma (RCC) is traditionally considered a disease of older adults; however, its incidence among young individuals is steadily increasing. Despite this epidemiologic shift, early-onset RCC remains poorly characterized and is still largely managed according to evidence derived from older populations. Available retrospective series suggest that younger patients more frequently present with localized disease and experience improved cancer-specific and overall survival compared with older counterparts. Nevertheless, they also exhibit greater histologic and molecular heterogeneity, with an overrepresentation of rare and genetically defined subtypes, including TFE3-rearranged and TFEB-altered RCC, fumarate hydratase-deficient RCC, succinate dehydrogenase-deficient RCC and SMARCB1-deficient renal medullary carcinoma. These entities are frequently associated with hereditary cancer syndromes and distinct metabolic patterns. In parallel, von Hippel-Lindau-related RCC and the development of HIF-2α inhibitors such as belzutifan illustrate how targeting lineage-specific pathways can modify the natural history of early-onset disease and reduce the burden of repeated local interventions. Emerging evidence also suggests that immune checkpoint inhibitor (ICI)-based combinations, particularly those incorporating VEGFR-targeted tyrosine kinase inhibitors, may provide clinically meaningful activity across several rare RCC subtypes, whereas outcomes with monotherapy remain variable. This evidence remains promising but preliminary and is not specific to young adults. A deeper molecular characterization of early-onset RCC may enable earlier detection and more accurate risk stratification, ultimately guiding treatment selection. Dedicated prospective studies are urgently needed to define age-specific management strategies, including surveillance protocols, genetic counseling, and personalized therapeutic approaches for young patients with RCC. - Source: PubMed
Publication date: 2026/09/20
Troisi PaolaOcchipinti DenisLigato ChiaraSardaro ValeriaCampi RiccardoMerenda ElisabettaCappoli NataliaArduini DanielaMessina GloriaDi Leo DavideNeri AlessioRossi FrancescoMoosavi Seyed KooshaRusso PierluigiFoschi NazarioSighinolfi ChiaraPierconti FrancescoRocco BernardoTortora GiampaoloCiccarese ChiaraIacovelli Roberto - Myoepithelioma-like tumor of the vulvar region (MELTVR) is a rare mesenchymal subcutaneous tumor of low malignant potential that occurs in adult women and has typical histological features, including loss of SMARCB1 (INI1) expression. This report describes the case of a 23-year-old woman with a painful vulvar subcutaneous nodule and a diagnosis of MELTVR and describes the challenges in the approach to definitive diagnosis. A 23-year-old woman presented with a three-month history of right pubic pain. Imaging revealed a 25-mm inguinal lesion without metastasis. Biopsy demonstrated spindle and plasmacytoid tumor cells in myxoid and hypercellular areas, suggesting myoepithelioma. Although necrosis and mitotic activity were not evaluable in the biopsy specimen, malignant potential could not be excluded. Complete surgical excision was subsequently performed. The resected tumor measured 45 × 35 × 15 mm and showed multilocular solid and gelatinous areas. Histologically, lobulated growth, marked atypia, necrosis, and mitotic activity (9/10 HPF) were identified. Immunohistochemically, tumor cells showed positivity for estrogen receptor (ER) and progesterone receptor (PgR), along with loss of SMARCB1 (INI1) expression. Other markers, such as neural and myoepithelial markers, were negative. Fluorescence in situ hybridization (FISH) analysis showed no Ewing sarcoma breakpoint region 1 (EWSR1) rearrangement. MELTVR was diagnosed based on integrated clinicopathological and molecular findings. Biopsy specimens may fail to capture key diagnostic features of MELTVR because of intratumoral heterogeneity. Definitive diagnosis requires comprehensive evaluation of resection specimens with immunohistochemical and molecular analyses. This case may contribute to establishing diagnostic criteria for this rare entity. - Source: PubMed
Publication date: 2026/08/19
Yoshida MitsuakiNguyen Thao TIwata TakahiroShimasaki MiyakoKumagai MotonaShioya AkihiroOyama TakeruSato KatuakiTsuda YojiroHisaoka MasanoriYamada Sohsuke