Gene

NF2

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

Explore in graph →CI-GENE-00016661HGNC:7773 ENSG00000186575 NCBI 4771 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (7)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–7 of 7 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
BAP1 Mutation + NF2 Mutation + SETD2 MutationBAP1 SETD2 NF21
Samotolisib	Malignant Mesothelioma	Predictive	B

Cohorts

Alteration frequency by cohort (93)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved93 cohort rows (showing 43, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Lung Adenocarcinoma (MSK Mind,Nature Cancer 2022) lung_msk_mind_2020	unmapped	Ssm	5	247

Literature

Linked publications (4)

25 per page, newest first.

pubmedPublishedShowing 1–4 of 4 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.
· PLoS One · 2015 · PMID 25798586 · validated civic_curation pubmed
Inhibition of the phosphoinositide 3-kinase pathway for the treatment of patients with metastatic metaplastic breast cancer.
· Ann Oncol · 2015 · PMID 25878190 · validated civic_curation pubmed
Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients.
· J Neurosurg Spine · 2011 · PMID 21294614 · validated civic_curation pubmed
NF2 Loss Promotes Oncogenic RAS-Induced Thyroid Cancers via YAP-Dependent Transactivation of RAS Proteins and Sensitizes Them to MEK Inhibition.
· Cancer Discov · 2015 · PMID 26359368 · validated

NF2 c.1396C>T2
(diagnostic)	Adult Spinal Cord Ependymoma	Diagnostic	B	Supports Positive	3	submitted	EID8066 Single strand conformation polymorphism and sequencing was used on human tumors to determine tumor NF2 genotype. This is a nonsense mutation. PMID 10433955 · Ebert et al., 1999 · Open in CIViC	civic
(predisposing)	Adult Spinal Cord Ependymoma	Predisposing	C	Supports Predisposition	2	accepted	EID8067 Blood or tumor specimens of 37 unrelated adult patients with ependymomas related to neurofibromatosis Type 2 (NF2) underwent sequencing of the NF2 gene to reveal germline variants. Overall, 64% were f… (full text at CIViC) PMID 21294614 · Plotkin et al., 2011 · Open in CIViC	civic

NF2 c.1396C>T2

(diagnostic)

Adult Spinal Cord Ependymoma

Diagnostic

Supports Positive

submitted

EID8066

Single strand conformation polymorphism and sequencing was used on human tumors to determine tumor NF2 genotype. This is a nonsense mutation.

PMID 10433955 · Ebert et al., 1999 · Open in CIViC

civic

(predisposing)

Adult Spinal Cord Ependymoma

Predisposing

Supports Predisposition

accepted

EID8067

Blood or tumor specimens of 37 unrelated adult patients with ependymomas related to neurofibromatosis Type 2 (NF2) underwent sequencing of the NF2 gene to reveal germline variants. Overall, 64% were f… (full text at CIViC)

PMID 21294614 · Plotkin et al., 2011 · Open in CIViC

civic

NF2 K159fs1
Temsirolimus	Malignant Breast Neoplasm	Predictive	C	Supports Sensitivity Response	3	accepted	EID715 23 patients were treated with temsirolimus containing regimens. 1 patient with a complete response >3 years had a K159fs*16 mutation in NF2. 2 patients were tested for NF2 mutations. PMID 25878190 · Moulder et al., 2015 · Open in CIViC	civic

NF2 K159fs1

Temsirolimus

Malignant Breast Neoplasm

Predictive

Supports Sensitivity Response

accepted

EID715

23 patients were treated with temsirolimus containing regimens. 1 patient with a complete response >3 years had a K159fs*16 mutation in NF2. 2 patients were tested for NF2 mutations.

PMID 25878190 · Moulder et al., 2015 · Open in CIViC

civic

NF2 Loss1
Selumetinib	Thyroid Gland Carcinoma	Predictive	D	Supports Sensitivity Response	4	accepted	EID1742 NF2 loss promotes oncogenic RAS-signaling via YAP-dependent transactivation of RAS and sensitizes to MEK inhibition. The authors demonstrate this in (A) isogenic lines derived from C643 cells (HRASG13… (full text at CIViC) PMID 26359368 · Garcia-Rendueles et al., 2015 · Open in CIViC	civic

NF2 Loss1

Selumetinib

Thyroid Gland Carcinoma

Predictive

Supports Sensitivity Response

accepted

EID1742

NF2 loss promotes oncogenic RAS-signaling via YAP-dependent transactivation of RAS and sensitizes to MEK inhibition. The authors demonstrate this in (A) isogenic lines derived from C643 cells (HRASG13… (full text at CIViC)

PMID 26359368 · Garcia-Rendueles et al., 2015 · Open in CIViC

civic

NF2 Mutation1
Everolimus	Vestibular SchwannomaALIAS	Predictive	B	Supports N/A	3	rejected	EID1671 Ten patients with Neurofibromatosis 2 were enrolled for treatment with Everolimus. At 12 months, no patients had reduction in tumor volume >20%, however, five patients had stable disease with a reduc… (full text at CIViC) PMID 25567352 · Goutagny et al., 2015 · Open in CIViC	civic

NF2 Mutation1

Everolimus

Vestibular SchwannomaALIAS

Predictive

Supports N/A

rejected

EID1671

Ten patients with Neurofibromatosis 2 were enrolled for treatment with Everolimus. At 12 months, no patients had reduction in tumor volume >20%, however, five patients had stable disease with a reduc… (full text at CIViC)

PMID 25567352 · Goutagny et al., 2015 · Open in CIViC

civic

NF2 Y177fs1
Carboplatin + CisplatinSubstitutes	Peritoneal Mesothelial NeoplasmALIAS	Predictive	C	Supports Resistance	3	accepted	EID649 A frameshift mutation in NF2 at position Y177 was found in a patient who responded poorly to therapy and died within 8 months of diagnosis. Initially treated with 3 cycles of systemic chemotherapy wit… (full text at CIViC) PMID 25798586 · Sheffield et al., 2015 · Open in CIViC	civic

NF2 Y177fs1

Carboplatin + CisplatinSubstitutes

Peritoneal Mesothelial NeoplasmALIAS

Predictive

Supports Resistance

accepted

EID649

A frameshift mutation in NF2 at position Y177 was found in a patient who responded poorly to therapy and died within 8 months of diagnosis. Initially treated with 3 cycles of systemic chemotherapy wit… (full text at CIViC)

PMID 25798586 · Sheffield et al., 2015 · Open in CIViC

civic