Molecular Profile Detail

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Profile Name SMARCB1 negative
Gene Variant Detail

SMARCB1 negative (loss of function)

Relevant Treatment Approaches

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Molecular Profile Indication/Tumor Type Response Type Relevant Treatment Approaches Therapy Name Approval Status Evidence Type Efficacy Evidence References
SMARCB1 negative rhabdoid cancer sensitive Palbociclib Preclinical Actionable In a preclinical study, Ibrance (palbociclib) inhibited growth of SMARCB1-negative malignant rhabdoid tumor cell lines in culture, and sensitivity was associated with low levels of p16 expression (PMID: 21871868). 21871868
SMARCB1 negative chordoma predicted - sensitive Tazemetostat Phase I Actionable In a Phase I trial, Tazemetostat (EPZ-6438) was well-tolerated and demonstrated anti-tumor activity in pediatric patients with SMARCB1 (INI)-deficient tumors, including complete or partial responses in patients with epithelioid sarcoma (n=1), chordoma (n=2), and atypical teratoid rhaboid tumor (n=1) (AACR-NCI-EORTC Int Conference on Molecular Targets and Cancer Therapeutics 2017, A175; NCT02601937). detail...
SMARCB1 negative rhabdoid cancer sensitive Alvocidib Preclinical - Cell line xenograft Actionable In a preclinical study, Alvocidib (flavopiridol) induced cell-cycle arrest and inhibited growth of human rhabdoid tumor cell lines with SMARCB1 biallelic deficiency in culture and inhibted tumor growth in SMARCB1-deficient cell line xenograft models (PMID: 18223228). 18223228
SMARCB1 negative Advanced Solid Tumor predicted - sensitive Tazemetostat Phase I Actionable In a Phase I trial, Tazemetostat (EPZ-6438) demonstrated safety and preliminary efficacy, resulted in clinical benefit (stable disease or better) in 38% (5/13) of patients with SMARCB1 or AMARCA4-negative advanced solid tumors (PMID: 29650362; NCT01897571). 29650362
SMARCB1 negative atypical teratoid rhabdoid tumor sensitive DZNeP Preclinical Actionable In a preclinical study, DZNep induced apoptosis and cell-cycle arrest and inhibited growth of SMARCB1-negative atypical teratoid rhabdoid tumor cell lines in culture (PMID: 23190500). 23190500
SMARCB1 negative rhabdoid cancer sensitive Fenretinide + Vorinostat Preclinical Actionable In a preclinical study, the combination of Zolinza (vorinostat) and fenretinide induced apoptosis and inhibited growth of rhabdoid tumor cell lines in culture (PMID: 23764045). 23764045
SMARCB1 negative atypical teratoid rhabdoid tumor sensitive DZNeP + Radiotherapy Preclinical Actionable In a preclinical study, DZNep increased radiosensitivity in SMARCB1-negative atypical teratoid rhabdoid tumor cell lines in culture (PMID: 23190500). 23190500
SMARCB1 negative rhabdoid cancer predicted - sensitive Tazemetostat Case Reports/Case Series Actionable In a Phase I trial, Tazemetostat (EPZ-6438) demonstrated safety and preliminary efficacy, resulted in a durable complete response lasting over 2.3 years in a patient with SMARCB1-negative malignant rhabdoid tumor (PMID: 29650362; NCT01897571). 29650362
SMARCB1 negative atypical teratoid rhabdoid tumor predicted - sensitive Tazemetostat Phase I Actionable In a Phase I trial, Tazemetostat (EPZ-6438) was well-tolerated and demonstrated anti-tumor activity in pediatric patients with SMARCB1 (INI)-deficient tumors, including complete or partial responses in patients with epithelioid sarcoma (n=1), chordoma (n=2), and atypical teratoid rhaboid tumor (n=1) (AACR-NCI-EORTC Int Conference on Molecular Targets and Cancer Therapeutics 2017, A175; NCT02601937). detail...
SMARCB1 negative epithelioid sarcoma predicted - sensitive Tazemetostat Case Reports/Case Series Actionable In a Phase I trial, Tazemetostat (EPZ-6438) demonstrated safety and preliminary efficacy, resulted durable stable disease in 2 patients with SMARCB1-negative epithelioid sarcoma (PMID: 29650362; NCT01897571). 29650362
SMARCB1 negative epithelioid sarcoma predicted - sensitive Tazemetostat Phase II Actionable In a Phase II trial, Tazverik (tazemetostat) treatment resulted in an objective response rate of 15% (9/62) and a disease control rate of 26% (16/62) in patients with locally advanced or metastatic SMARCB1 (INI1)-negative epithelioid sarcoma, with a median duration of response not reached and a median overall survival of 82.4 weeks (J Clin Oncol 37, no. 15_suppl (May 20, 2019) 11003-11003, NCT02601950). detail...
SMARCB1 negative epithelioid sarcoma predicted - sensitive Tazemetostat Phase I Actionable In a Phase I trial, Tazemetostat (EPZ-6438) was well-tolerated and demonstrated anti-tumor activity in pediatric patients with SMARCB1 (INI)-deficient tumors, including complete or partial responses in patients with epithelioid sarcoma (n=1), chordoma (n=2), and atypical teratoid rhaboid tumor (n=1) (AACR-NCI-EORTC Int Conference on Molecular Targets and Cancer Therapeutics 2017, A175; NCT02601937). detail...
Clinical Trial Phase Therapies Title Recruitment Status
NCT04416568 Phase II Ipilimumab + Nivolumab Study of Nivolumab and Ipilimumab in Children and Young Adults With INI1-Negative Cancers Recruiting
NCT03587662 Phase II Gemcitabine + Ixazomib Doxorubicin + Gemcitabine + Ixazomib Ixazomib, Gemcitabine, and Doxorubicin in Treating Patients With Locally Advanced or Metastatic Kidney Cancer Recruiting