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BIOMARKER:

SMARCB1 deletion

i
Other names: SMARCB1, SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1, Protein Phosphatase 1, Regulatory Subunit 144 , Sucrose Nonfermenting, Yeast, Homolog-Like 1, Malignant Rhabdoid Tumor Suppressor , Integrase Interactor 1 Protein, BRG1-Associated Factor 47, SNF5 Homolog, SNF5L1, BAF47, HSNF5, INI1, SWI/SNF-Related Matrix-Associated Protein, PPP1R144, SWNTS1, MRD15, RTPS1, CSS3, SNF5, Snr1, BAF47, MRD15, RTPS1, Sfh1p, hSNFS
Entrez ID:
Related biomarkers:
2ms
Targeting cholesterol biosynthesis for AT/RT: comprehensive expression analysis and validation in newly established AT/RT cell line. (PubMed, Hum Cell)
Simvastatin was highly sensitive against MZ611ATRT cells and induced apoptosis (IC50 was 3.098 µM for MZ611ATRT, 41.88uM for U-87 MG, 23.34uM for IOMM-Lee, and 18.12uM for U-251 MG.). Pathways involved in cholesterol biosynthesis may be new targets for adjuvant therapy of AT/RT.
Preclinical • Journal
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SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
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SMARCB1 deletion
3ms
Clinicopathological features of gastric alpha-fetoprotein-producing adenocarcinoma with SWI/SNF complex deletion (PubMed, Zhonghua Bing Li Xue Za Zhi)
Postoperative adjuvant chemotherapy was given to three patients. AFP-producing adenocarcinoma is a rare subtype of gastric cancer, which can be combined with SWI/SNF complex deletion, and the pathomorphological manifestations are different from the classical SWI/SNF complex deletion of undifferentiated carcinoma with rhabdoid phenotype.
Journal
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HER-2 (Human epidermal growth factor receptor 2) • ARID1A (AT-rich interaction domain 1A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDH1 (Cadherin 1) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • AFP (Alpha-fetoprotein) • GPC3 (Glypican 3) • SALL4 (Spalt Like Transcription Factor 4) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2)
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ARID1A deletion • SMARCA4 deletion • SMARCB1 deletion • CDH1 expression • GPC3 expression • AFP expression
4ms
SMARCB1-deficient sinonasal adenocarcinoma: a rare variant of SWI/SNF-deficient malignancy often misclassified as high-grade non-intestinal-type sinonasal adenocarcinoma or myoepithelial carcinoma. (PubMed, Virchows Arch)
The original diagnosis was usually high-grade non-intestinal-type adenocarcinoma or high-grade myoepithelial carcinoma. A correct diagnosis of these aggressive tumors could lead to improved targeted therapies with potentially better overall disease-specific survival.
Journal
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ER (Estrogen receptor) • POLE (DNA Polymerase Epsilon) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • ARID1B (AT-Rich Interaction Domain 1B) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2) • PAX3 (Paired Box 3)
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POLE mutation • ER mutation • ESR1 mutation • ARID1B mutation • SMARCB1 deletion • SMARCB1 mutation
4ms
Head and neck INI1-deficient carcinoma without primary: a case report. (PubMed, J Med Case Rep)
Research of INI1 deletion should be performed for undifferentiated carcinoma of young patients because of possibilities of molecular therapies such as autophagy inhibitors or proteasome inhibitors could be used in clinical trials.
Journal
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SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
|
SMARCB1 deletion
6ms
Epithelioid sarcoma following radiation therapy? A case report and review of the literature (ASDP 2023)
We present this case as well as a review of the literature regarding etiologic associations with ES. Poster type: Poster Defense
Clinical • Review
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SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • CD34 (CD34 molecule) • VIM (Vimentin)
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SMARCB1 deletion
8ms
MULTIOMICS PROFILING OF EPITHELIOID SARCOMA UNVEILS EPIGENETIC CIRCUITRIES THAT UNDERLIE THE PATHOBIOLOGY OF PROXIMAL AND CLASSIC SUBTYPES: RESULTS FROM THE ISG EPISOBS OBSERVATIONAL STUDY (CTOS 2023)
This multiomics study supports the notion that P-ES and C-ES are distinct molecular entities, characterized by a different degree of phenotypic drift form the mesenchymal makeup and marked by different DNA methylation and miRNA:gene circuitries. The transcriptional profile of P-ES suggests that biology rather than anatomic location sustains its poorer outcome. Our study unveiled also novel immunohistochemical markers that might aid in the differential diagnosis of P-ES and C-ES, thus serving as potential tools of patient stratification in future studies.
Clinical • Observational data
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SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
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SMARCB1 deletion
9ms
SMARCB1/INI1 loss in skull base conventional chordomas: a clinicopathological and molecular analysis. (PubMed, Front Oncol)
Partial loss of SMARCB1/INI1, secondary to heterozygous deletion and/or copy number gain of SMARCB1, is not peculiar of aggressive forms, but can be identified by immunohistochemistry in a significant portion of conventional skull base chordomas, including the chondroid subtype. The variable protein expression does not appear to correlate with clinicopathological parameters, nor survival outcomes, but still, it could have therapeutic implications.
Journal
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SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
|
SMARCB1 deletion
9ms
Primary intracranial sarcomas: a clinicopathological investigation. (PubMed, Front Oncol)
Patients who underwent GTR of these lesions showed improved survival rates. Recent advancements in NGS aided in the identification of diagnostic and therapeutic PIS-relevant targets.
Journal
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KDR (Kinase insert domain receptor) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • TOP2A (DNA topoisomerase 2-alpha) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
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NRAS mutation • PIK3CA mutation • PBRM1 mutation • BAP1 mutation • SMARCB1 deletion • BLM mutation
10ms
Molecular and functional heterogeneity of primary pancreatic neuroendocrine tumors and the metastases. (PubMed, Neuroendocrinology)
Metastases exhibited a certain extent of genomic and transcriptomic diversity from primary PanNETs. TP53 and KRAS mutation in primary samples might associate with metastasis and contribute to a poorer prognosis. A high fraction of novel targetable alterations enriched in metastases deserves to be validated in advanced PanNETs.
Journal
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • MET (MET proto-oncogene, receptor tyrosine kinase) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • KMT2D (Lysine Methyltransferase 2D) • CDK4 (Cyclin-dependent kinase 4) • TSC2 (TSC complex subunit 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • FAT1 (FAT atypical cadherin 1) • TGFB1 (Transforming Growth Factor Beta 1)
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TP53 mutation • KRAS mutation • MET amplification • EGFR amplification • ATM mutation • PTEN mutation • ARID1A mutation • TP53 mutation + KRAS mutation • TSC2 mutation • SMARCB1 deletion
11ms
Genomic alterations of cerebrospinal fluid cell-free DNA in leptomeningeal metastases of gastric cancer. (PubMed, J Transl Med)
CSF ctDNA could more sensitively detect molecular markers and metastasis-related mechanisms than tumor tissues in GCLM patients, and our study sheds light on utilizing CSF ctDNA in prognostic estimation and clinical assessment in GCLM.
Retrospective data • Journal
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CCNE1 (Cyclin E1) • SMAD4 (SMAD family member 4) • IGF1R (Insulin-like growth factor 1 receptor) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • PREX2 (Phosphatidylinositol-3,4,5-Trisphosphate Dependent Rac Exchange Factor 2) • TGFB1 (Transforming Growth Factor Beta 1)
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CCNE1 amplification • AR mutation • SMARCB1 deletion • SMAD4 deletion • PREX2 mutation
11ms
LACK OF SMARCB1 EXPRESSION CHARACTERIZES A SUBSET OF PERIPHERAL T-CELL LYMPHOMAS ENRICHED IN CHILDREN AND YOUNG ADULTS (ICML 2023)
Here we describe SMARCB1-negative PTCL-NOS as a potential new molecular subtype of PTCL-NOS significantly enriched in young patients. A strong concordance between naturally occurring SMARCB1-deficient PTCL in humans and in the targeted mouse model were found regarding epigenetic features. Our results provide a rationale for further investigation of potential HDACi combination therapies in SMARCB1-negative PTCL-NOS.
Clinical
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SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • CD4 (CD4 Molecule)
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SMARCB1 deletion • SMARCB1 mutation • SMARCB1 negative
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Zolinza (vorinostat)
1year
How I treat recurrent pediatric high-grade glioma (pHGG): a Europe-wide survey study. (PubMed, J Neurooncol)
In each case, experts would combine conventional multimodal treatment concepts, including re-irradiation, with targeted therapy based on molecular genetic findings. International cooperative trials combining a (chemo-)therapy backbone with targeted therapy approaches for defined subgroups may help to gain valid clinical data and improve treatment in pediatric patients with recurrent/progressing HGG.
Journal • IO biomarker
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
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EGFR overexpression • CDKN2A deletion • SMARCB1 deletion • EZH2 deletion
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Avastin (bevacizumab) • temozolomide • etoposide oral
1year
INI1 (SMARCB1) Loss in Skull Base Conventional/chondroid Chordomas: A clinicopathological and molecular analysis (USCAP 2023)
Partial loss of SMARCB1/INI1, secondary to heterozygous deletion and/or copy number gain of SMARCB1 , is not peculiar of aggressive forms, but can be identified by immunohistochemistry in in a significant portion of conventional and chondroid skull base chordomas. The different protein expression does not appear to correlate with clinicopathological parameters nor survival outcomes. However, it could still have therapeutic implications.
Clinical
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SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
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SMARCB1 deletion
over1year
DelPHI: Delivering Precision Health Insights for Timely Diagnosis and Treatment of Epithelioid Sarcoma Using Protean MAPS and NAVIFY Digital Tools (AMP 2022)
P2 | "Notably, a complete SMARCB1/INI1 deletion (targetable by tazemetostat) was identified... NGS in conjunction with OGM demonstrated improved detection of clinically actionable alterations for this patient. Thus, both tests should be routinely considered as a part of the diagnostic regimen to better characterize key mutations in rare tumors and uncover actionable targets for treatment. Combining multiple types of molecular analyses uncovered that this patient was eligible for a novel clinical trial."
PD-L1 (Programmed death ligand 1) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • MUTYH (MutY homolog)
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SMARCB1 deletion
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FoundationOne® Heme CDx • Tempus xF Assay
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Tazverik (tazemetostat)
over1year
Journal
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SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
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SMARCB1 deletion
over1year
Primary adult sellar SMARCB1/INI1-deficient tumor represents a subtype of atypical teratoid/rhabdoid tumor. (PubMed, Mod Pathol)
Based on epigenetic characteristics, primary adult sellar SMARCB1/INI1-deficient tumors represent a subtype of ATRT with similar epigenetic characteristics of ATRT-MYC subgroup. Our findings suggest that DNA methylation profiling should be utilized for differential diagnosis for the majority of epithelioid sarcoma and (sellar) rhabdoid tumor.
Journal
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SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • CD34 (CD34 molecule)
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SMARCB1 deletion • SMARCB1 mutation
almost2years
USING OPTICAL GENOME MAPPING AND NGS TO UNDERSTAND EPITHELIOD SARCOMA IN A PEDIATRIC PATIENT (ASPHO 2022)
The deletion of the SMARCB1/INI1 gene leads to activation of certain pathways, which can be targeted for treatment with the drug Tazemetostat... NGS in conjunction to OGM can provide improved detection of clinically relevant variants for genetic disease. Thus, both tests should be considered as a part of the diagnostic regimen to better characterize key mutations in rare tumors and uncover actionable targets for treatment.
Clinical • PD(L)-1 Biomarker • IO biomarker • Next-generation sequencing
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PD-L1 (Programmed death ligand 1) • PD-1 (Programmed cell death 1) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • MUTYH (MutY homolog)
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PD-L1 expression • PD-1 expression • SMARCB1 deletion
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FoundationOne® Heme CDx
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Tazverik (tazemetostat)
2years
Cancer Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan. (PubMed, Oncology)
This is the first cancer-related germline analysis with detailed clinical information reported in Japanese children with brain tumors. The prevalence was almost equivalent to that in white children.
Clinical • Journal
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MLH1 (MutL homolog 1) • PTCH1 (Patched 1) • CHEK2 (Checkpoint kinase 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • TSC1 (TSC complex subunit 1) • WRN (WRN RecQ Like Helicase) • FANCI (FA Complementation Group I)
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SMARCB1 deletion • TSC1 deletion
2years
Atypical teratoid rhabdoid tumor in a child with neurofibromatosis type 2: A novel dual diagnosis. (PubMed, Cancer Genet)
SMARCB1 MLPA assay of blood showed no deletion. This cascade represents a novel, "four-hit" mechanism of SMARCB1 inactivation resulting in ATRT and the first known dual diagnosis of NF2 and ATRT.
Clinical • Journal
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NF2 (Neurofibromin 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
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NF2 mutation • SMARCB1 deletion • NF2 deletion
over2years
Natural and cryptic peptides dominate the immunopeptidome of atypical teratoid rhabdoid tumors. (PubMed, J Immunother Cancer)
These findings highlight that AT/RTs, potentially paradigmatic for other pediatric tumors with a low mutational load, present a variety of highly immunogenic HLA class I and class II peptides from canonical as well as non-canonical protein sources. Inclusion of such cryptic peptides into therapeutic vaccines would enable an optimized mapping of the tumor cell surface, thereby reducing the likelihood of immune evasion.
Journal • Tumor Mutational Burden
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TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
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SMARCB1 deletion
over2years
Pediatric Metastatic Hepatoblastoma With an ARID1A Mutation and Rhabdoid Cells. (PubMed, Int J Surg Pathol)
The initial diagnostic biopsy did not reveal rhabdoid cells while all metastatic foci showed cells with rhabdoid morphology in the autopsy specimens. Although this rhabdoid component resembled malignant rhabdoid tumor morphologically, molecular analyses failed to show mutations or deletions of SMARCB1.
Clinical • Journal
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ARID1A (AT-rich interaction domain 1A) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
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ARID1A mutation • CTNNB1 mutation • SMARCB1 deletion • SMARCB1 mutation
over2years
Poorly differentiated chordoma showing loss of SMARCB1/INI1: Clinicopathological and radiological spectrum of 9 cases, including uncommon features of a relatively under-recognized entity. (PubMed, Ann Diagn Pathol)
Critical analysis of radiological and histopathological features, including necessary immunostains (brachyury and SMARCB1/INI1), is necessary for their timely diagnosis. These tumors show loss of SMARCB1/INI1 immunostaining and homozygous deletion of INI1/SMARCB1 gene.
Clinical • Journal
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SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • GPC3 (Glypican 3) • S100P (S100 calcium binding protein P)
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SMARCB1 deletion
over2years
Recurrent loss of chromosome 22 and SMARCB1 deletion in extra-axial Chordoma: A clinicopathological and molecular analysis. (PubMed, Genes Chromosomes Cancer)
Both poorly differentiated chordomas demonstrated a complex hyperdiploid genomic profile with gain of multiple chromosomes and homozygous deletion of SMARCB1. Our findings show that heterozygous deletion of SMARCB1 or the loss of chromosome 22 is a consistent abnormality in extra-axial chordoma and transformation to poorly differentiated chordoma is characterized by homozygous loss of SMARCB1 associated with genomic complexity and instability such as hyperdiploidy.
Clinical • Journal • Tumor Mutational Burden
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TMB (Tumor Mutational Burden) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
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TMB-L • SMARCB1 deletion
over2years
Vulvar Yolk Sac Tumors Are Somatically Derived SMARCB1 (INI-1)-Deficient Neoplasms. (PubMed, Am J Surg Pathol)
One patient had progressive disease while receiving the enhancer of zeste homolog 2 inhibitor tazemetostat. Overall, these findings suggest that vulvar tumors with pure yolk sac-like morphology may represent morphologic variants of SMARCB1-deficient tumors and not veritable germ cell neoplasia. This potential reclassification may have both prognostic and treatment implications and warrants study of additional extragonadal yolk sac tumors.
Journal
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SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • CD34 (CD34 molecule) • GPC3 (Glypican 3) • SALL4 (Spalt Like Transcription Factor 4)
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SMARCB1 deletion • CD34 positive
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Tazverik (tazemetostat)
almost3years
SMARCB1 deletion in atypical teratoid rhabdoid tumors results in human endogenous retrovirus K (HML-2) expression. (PubMed, Sci Rep)
Overexpression of NRAS was sufficient to restore cellular proliferation, and MYC, a transcription factor downstream of NRAS, was bound to the HERV-K LTR significantly more in the absence of SMARCB1 expression in AT/RT cells. We show a mechanism by which these undifferentiated tumors remain pluripotent, and we demonstrate that their formation is aided by aberrant HML-2 activation, which is dependent on SMARCB1 and its interaction with MYC.
Journal
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NRAS (Neuroblastoma RAS viral oncogene homolog) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
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NRAS overexpression • SMARCB1 deletion • SMARCB1 mutation
almost3years
[VIRTUAL] Congenital Rhabdoid Tumor of the Orbit: A Case Report (AANP 2021)
While the site of origin cannot be determined definitively, the highest tumor burden was in the orbit, making this the most likely primary site. Congenital orbital rhabdoid tumor is rare and only a few cases are reported in the literature.
Clinical
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SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • GFAP (Glial Fibrillary Acidic Protein)
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SMARCB1 deletion
almost3years
Diagnostic Immunohistochemistry of Soft Tissue and Bone Tumors: An Update on Biomarkers That Correlate with Molecular Alterations. (PubMed, Diagnostics (Basel))
These include immunohistochemical antibodies that represent reliable surrogates for the detection of gene fusions (e.g., STAT6, CAMTA1, FOSB, DDIT3) and more recently described breakpoint-specific antibodies (e.g., SS18-SSX, PAX3/7-FOXO1). Additionally, discussed are markers that correlate with the presence of gene amplifications (e.g., MDM2, CDK4), deletions (e.g., SMARCB1, SMARCA4), single nucleotide variants (e.g., G34W, K36M), aberrant methylation (H3K27me3), and increased expression as discovered through gene expression profiling (e.g., MUC4, DOG1, ETV4, NKX2.2, NKX3.1).
Review • Journal
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MDM2 (E3 ubiquitin protein ligase) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDK4 (Cyclin-dependent kinase 4) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • FOXO1 (Forkhead box O1) • MUC4 (Mucin 4, Cell Surface Associated) • STAT6 (Signal transducer and activator of transcription 6) • DDIT3 (DNA-damage-inducible transcript 3) • SS18 (SS18 Subunit Of BAF Chromatin Remodeling Complex) • NKX3-1 (NK3 homeobox 1)
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SMARCB1 deletion • MUC4 expression
almost3years
[VIRTUAL] RESISTANCE TO PLATINUM-BASED CHEMOTHERAPY IN A MYOEPITHELIAL CARCINOMA WITH A NOVEL ARID1A MUTATION (ASPHO 2021)
The patient completed four rounds of neoadjuvant therapy with ifosfamide, carboplatin, and etoposide in combination with 50 Gy radiation...He had considerable disease progression despite pembrolizumab and investigative therapies on early phase clinical trials... This case describes an AYA patient with a treatment-resistant soft tissue myoepithelial carcinoma and a previously unreported ARID1A mutation. ARID1A mutations have been described as potent oncogenic drivers in other tumor types and are reportedly resistant to platinum-based chemotherapy regimens. While we cannot establish clinical guidelines from a single case, our finding expands the molecular phenotype of this tumor, provides a potential mechanism for the observed resistance to platinum-based chemotherapy in a subset of cases, and highlights the need for a new therapeutic approach to this challenging diagnosis.
Tumor Mutational Burden • PD(L)-1 Biomarker
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TMB (Tumor Mutational Burden) • ARID1A (AT-rich interaction domain 1A) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • EWSR1 (EWS RNA Binding Protein 1)
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ARID1A mutation • TMB-L • SMARCB1 deletion
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Keytruda (pembrolizumab) • carboplatin • ifosfamide • etoposide IV
3years
Primary Cutaneous SMARCB1-deficient Carcinoma. (PubMed, J Cutan Pathol)
SDCS can be clinically aggressive, harbor SMARCB1 homozygous deletions or truncating SMARCB1 mutations associated with LOH, and can occur with or without UV-MS. Overall, SMARCB1 mutations in NMSC are rare with most being of undetermined significance and associated with retained INI1 and UV-MS.
Journal
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SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • CD34 (CD34 molecule) • TP63 (Tumor protein 63) • LATS2 (Large Tumor Suppressor Kinase 2)
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SMARCB1 deletion • SMARCB1 mutation
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MSK-IMPACT