SMARCB1 Loss

Loading variant…

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Atypical Teratoid/Rhabdoid Tumor3
SMARCB1 Loss	(diagnostic)	Diagnostic	A	Supports Positive	5	submitted	EID8863 Atypical teratoid/rhabdoid tumor (AT/RT) is now defined by WHO guidelines by alterations of either INI1 (SMARCB1) or BRG1 (SMARCA4; rarely mutated) which result in loss of tumor nuclear expression of … (full text at CIViC) PMID 27157931 · Louis et al., 2016 · Open in CIViC	civic
SMARCB1 Loss	(diagnostic)	Diagnostic	B	Supports Positive	4	accepted	EID8862 53 pediatric tumors consisting of 20 AT/RT, 10 PNET, and 23 other central nervous system tumors were classified using microscopic diagnosis, and then tested for expression of the SMARCB1 gene product … (full text at CIViC) PMID 15105654 · Judkins et al., 2004 · Open in CIViC	civic

Molecular profile

Therapy

Type

Level

Direction · significance

Rating (1–5)

Status

Evidence

Source

Atypical Teratoid/Rhabdoid Tumor3

SMARCB1 Loss

(diagnostic)

Diagnostic

Supports Positive

submitted

EID8863

Atypical teratoid/rhabdoid tumor (AT/RT) is now defined by WHO guidelines by alterations of either INI1 (SMARCB1) or BRG1 (SMARCA4; rarely mutated) which result in loss of tumor nuclear expression of … (full text at CIViC)

PMID 27157931 · Louis et al., 2016 · Open in CIViC

civic

SMARCB1 Loss

(diagnostic)

Diagnostic

Supports Positive

accepted

EID8862

53 pediatric tumors consisting of 20 AT/RT, 10 PNET, and 23 other central nervous system tumors were classified using microscopic diagnosis, and then tested for expression of the SMARCB1 gene product … (full text at CIViC)

PMID 15105654 · Judkins et al., 2004 · Open in CIViC

civic

Epithelioid Sarcoma2
SMARCB1 Loss	(oncogenic)	Oncogenic	B	Supports Oncogenicity	3	accepted	EID9993 This study aimed to characterize the spectrum of SMARCB1 gene abnormalities in epithelioid sarcoma. 19/21 patients were SMARCB1 immunohistochemistry-negative. Multiplex ligation dependent probe amplif… (full text at CIViC) PMID 23060122 · Sullivan et al., 2013 · Open in CIViC	civic
SMARCB1 Loss	Tazemetostat	Predictive	C	Supports Sensitivity Response	2	submitted	EID11181 In the dose expansion of phase I pediatric trial (NCT02601937) of the EZH2 inhibitor tazemetostat, the overall response in 9 patients with SMARCB1-deficient epithelioid sarcoma was 22%, with 1 complet… (full text at CIViC) Open in CIViC	civic

Epithelioid Sarcoma2

SMARCB1 Loss

(oncogenic)

Oncogenic

Supports Oncogenicity

accepted

EID9993

This study aimed to characterize the spectrum of SMARCB1 gene abnormalities in epithelioid sarcoma. 19/21 patients were SMARCB1 immunohistochemistry-negative. Multiplex ligation dependent probe amplif… (full text at CIViC)

PMID 23060122 · Sullivan et al., 2013 · Open in CIViC

civic

SMARCB1 Loss

Tazemetostat

Predictive

Supports Sensitivity Response

submitted

EID11181

In the dose expansion of phase I pediatric trial (NCT02601937) of the EZH2 inhibitor tazemetostat, the overall response in 9 patients with SMARCB1-deficient epithelioid sarcoma was 22%, with 1 complet… (full text at CIViC)

Open in CIViC

civic

Malignant Neoplasm1
EZH2 Mutation OR SMARCA4 Loss OR SMARCB1 Loss	Tazemetostat	Predictive	B	Does Not Support Sensitivity Response	3	submitted	EID11694 In this NCI-COG pediatric MATCH trial, 20 patients (aged 1-21 years) harboring tumors with EZH2 mutations or SMARCB1 or SMARCA4 loss were treated with tazemetostat. The most frequent tumor types were … (full text at CIViC) PMID 37228094 · Chi et al., 2023 · Open in CIViC	civic

Malignant Neoplasm1

EZH2 Mutation OR SMARCA4 Loss OR SMARCB1 Loss

Tazemetostat

Predictive

Does Not Support Sensitivity Response

submitted

EID11694

In this NCI-COG pediatric MATCH trial, 20 patients (aged 1-21 years) harboring tumors with EZH2 mutations or SMARCB1 or SMARCA4 loss were treated with tazemetostat. The most frequent tumor types were … (full text at CIViC)

PMID 37228094 · Chi et al., 2023 · Open in CIViC

civic

Poorly Differentiated Chordoma6
SMARCB1 Loss	(diagnostic)	Diagnostic	B	Supports Positive	3	submitted	EID11170 All 7 of 7 poorly differentiated chordomas exhibited loss of SMARCB1 expression while SMARCB1 expression was retained in 14 conventional chordomas. Copy number profiling revealed loss of chromosome 2… (full text at CIViC) PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC	civic
SMARCB1 Loss	(diagnostic)	Diagnostic	B	Supports Positive	2	submitted	EID11336 9 of 9 poorly differentiated chordomas tested by IHC exhibited loss of SMARCB1 expression. 7 of 8 tested by FISH showed homozygous deletion of SMARCB1. PMID 29119645 · Owosho et al., 2018 · Open in CIViC	civic
SMARCB1 Loss	(prognostic)	Prognostic	B	Supports Poor Outcome	2	submitted	EID11337 Seven pediatric patients with poorly differentiated chordomas, associated with loss of SMARCB1, had a median overall survival of 9 months (95% confidence level of 6 to 12 months). PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC	civic
SMARCB1 Loss	(diagnostic)	Diagnostic	C	Supports Positive	1	submitted	EID11340 2 of 2 poorly differentiated chordomas exhibited 22q loss, including SMARCB1, with no mutations identified. PMID 31135077 · Shih et al., 2019 · Open in CIViC	civic
SMARCB1 Loss	Tazemetostat	Predictive	C	Supports Sensitivity Response	2	submitted	EID11178 In the dose expansion of phase I pediatric trial (NCT02601937) of the EZH2 inhibitor tazemetostat, 2 of 6 patients with SMARCB1-deficient poorly differentiated chordoma had a partial response and 1 of… (full text at CIViC) Open in CIViC	civic
SMARCB1 Loss	Tazemetostat	Predictive	C	Supports Sensitivity Response	1	submitted	EID11338 A patient with SMARCB1-deleted poorly differentiated chordoma received the EZH2 inhibitor tazemetostat (800 mg/ twice daily) for 4 weeks as part of a phase II trial followed by radiation at the time o… (full text at CIViC) PMID 30642912 · Gounder et al., 2019 · Open in CIViC	civic

Poorly Differentiated Chordoma6

SMARCB1 Loss

(diagnostic)

Diagnostic

Supports Positive

submitted

EID11170

All 7 of 7 poorly differentiated chordomas exhibited loss of SMARCB1 expression while SMARCB1 expression was retained in 14 conventional chordomas. Copy number profiling revealed loss of chromosome 2… (full text at CIViC)

PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC

civic

SMARCB1 Loss

(diagnostic)

Diagnostic

Supports Positive

submitted

EID11336

9 of 9 poorly differentiated chordomas tested by IHC exhibited loss of SMARCB1 expression. 7 of 8 tested by FISH showed homozygous deletion of SMARCB1.

PMID 29119645 · Owosho et al., 2018 · Open in CIViC

civic

SMARCB1 Loss

(prognostic)

Prognostic

Supports Poor Outcome

submitted

EID11337

Seven pediatric patients with poorly differentiated chordomas, associated with loss of SMARCB1, had a median overall survival of 9 months (95% confidence level of 6 to 12 months).

PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC

civic

SMARCB1 Loss

(diagnostic)

Diagnostic

Supports Positive

submitted

EID11340

2 of 2 poorly differentiated chordomas exhibited 22q loss, including SMARCB1, with no mutations identified.

PMID 31135077 · Shih et al., 2019 · Open in CIViC

civic

SMARCB1 Loss

Tazemetostat

Predictive

Supports Sensitivity Response

submitted

EID11178

In the dose expansion of phase I pediatric trial (NCT02601937) of the EZH2 inhibitor tazemetostat, 2 of 6 patients with SMARCB1-deficient poorly differentiated chordoma had a partial response and 1 of… (full text at CIViC)

Open in CIViC

civic

SMARCB1 Loss

Tazemetostat

Predictive

Supports Sensitivity Response

submitted

EID11338

A patient with SMARCB1-deleted poorly differentiated chordoma received the EZH2 inhibitor tazemetostat (800 mg/ twice daily) for 4 weeks as part of a phase II trial followed by radiation at the time o… (full text at CIViC)

PMID 30642912 · Gounder et al., 2019 · Open in CIViC

civic

Renal Medullary Carcinoma2
SMARCB1 Loss	(diagnostic)	Diagnostic	B	Supports Positive	2	accepted	EID11165 In a retrospective analysis of 20 patients with renal medullary carcinoma, all patients had loss of SMARCB1 staining by IHC. FISH revealed 11 (55%) had a SMARCB1 translocation with loss of the second… (full text at CIViC) PMID 30980040 · Jia et al., 2019 · Open in CIViC	civic
SMARCB1 Loss	(diagnostic)	Diagnostic	B	Supports Positive	2	accepted	EID11167 In a comparison of 6 renal medullary carcinomas (RMC) and 22 collecting duct carcinomas (CDC), all 6 RMC were negative for SMARCB1 by IHC whereas only 1 of 22 CDC lost SMARCB1 expressing, supporting S… (full text at CIViC) PMID 22686875 · Calderaro et al., 2012 · Open in CIViC	civic

Renal Medullary Carcinoma2

SMARCB1 Loss

(diagnostic)

Diagnostic

Supports Positive

accepted

EID11165

In a retrospective analysis of 20 patients with renal medullary carcinoma, all patients had loss of SMARCB1 staining by IHC. FISH revealed 11 (55%) had a SMARCB1 translocation with loss of the second… (full text at CIViC)

PMID 30980040 · Jia et al., 2019 · Open in CIViC

civic

SMARCB1 Loss

(diagnostic)

Diagnostic

Supports Positive

accepted

EID11167

In a comparison of 6 renal medullary carcinomas (RMC) and 22 collecting duct carcinomas (CDC), all 6 RMC were negative for SMARCB1 by IHC whereas only 1 of 22 CDC lost SMARCB1 expressing, supporting S… (full text at CIViC)

PMID 22686875 · Calderaro et al., 2012 · Open in CIViC

civic

Rhabdoid Tumor1
SMARCB1 Loss	(diagnostic)	Diagnostic	B	Does Not Support Positive	2	accepted	EID11090 The authors characterized the occurrence of SMARCB1 gene loss in epithelioid sarcomas. SMARCB1 immunohistochemistry staining demonstrated 19/21 patient samples were negative. Multiplex ligation depend… (full text at CIViC) PMID 23060122 · Sullivan et al., 2013 · Open in CIViC	civic

Rhabdoid Tumor1

SMARCB1 Loss

(diagnostic)

Diagnostic

Does Not Support Positive

accepted

EID11090

The authors characterized the occurrence of SMARCB1 gene loss in epithelioid sarcomas. SMARCB1 immunohistochemistry staining demonstrated 19/21 patient samples were negative. Multiplex ligation depend… (full text at CIViC)

PMID 23060122 · Sullivan et al., 2013 · Open in CIViC

civic

SMARCB1-Deficient Kidney Medullary Carcinoma1
SMARCB1 Loss	(diagnostic)	Diagnostic	B	Supports Positive	2	accepted	EID11168 In a retrospective analysis of 23 renal medullary carcinoma patients with tumor sample available for IHC staining, all exhibited a loss of SMARCB1 expression. Of 10 tumors analyzed by FISH, SMARCB1 g… (full text at CIViC) PMID 28558987 · Carlo et al., 2017 · Open in CIViC	civic

SMARCB1-Deficient Kidney Medullary Carcinoma1

SMARCB1 Loss

(diagnostic)

Diagnostic

Supports Positive

accepted

EID11168

In a retrospective analysis of 23 renal medullary carcinoma patients with tumor sample available for IHC staining, all exhibited a loss of SMARCB1 expression. Of 10 tumors analyzed by FISH, SMARCB1 g… (full text at CIViC)

PMID 28558987 · Carlo et al., 2017 · Open in CIViC

civic

Evidence by cancer (16 items)

Clinical significance (0)