EVI2B

Summary

EVI2B (ecotropic viral integration site 2B, HGNC:3500) is a protein-coding gene on chromosome 17q11.2, encoding Protein EVI2B (P34910). Required for granulocyte differentiation and functionality of hematopoietic progenitor cells through the control of cell cycle progression and survival of hematopoietic progenitor cells.

Involved in positive regulation of granulocyte differentiation. Predicted to be located in plasma membrane.

Source: NCBI Gene 2124 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 73 total — 3 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_006495

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3500
Approved symbol	EVI2B
Name	ecotropic viral integration site 2B
Location	17q11.2
Locus type	gene with protein product
Status	Approved
Aliases	D17S376, EVDB, CD361
Ensembl gene	ENSG00000185862
Ensembl biotype	protein_coding
OMIM	158381
Entrez	2124

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000330927, ENST00000577894, ENST00000902389

RefSeq mRNA: 1 — MANE Select: NM_006495 NM_006495

CCDS: CCDS11266

Canonical transcript exons

ENST00000330927 — 2 exons

Exon	Start	End
ENSE00001290626	31303770	31305630
ENSE00002697809	31313979	31314054

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 99.48.

FANTOM5 (CAGE): breadth broad, TPM avg 58.4748 / max 8851.1374, expressed in 767 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165229	31.2649	598
165230	8.2683	431
165231	6.1428	464
165227	3.9113	351
165228	2.2041	329
165220	2.1836	348
165223	1.1308	275
165224	1.0569	260
208123	0.9062	268
165221	0.6011	207

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	99.48	gold quality
mononuclear cell	CL:0000842	99.48	gold quality
leukocyte	CL:0000738	99.46	gold quality
blood	UBERON:0000178	99.01	gold quality
granulocyte	CL:0000094	98.78	gold quality
bone marrow	UBERON:0002371	98.62	gold quality
bone marrow cell	CL:0002092	98.35	gold quality
trabecular bone tissue	UBERON:0002483	97.81	gold quality
spleen	UBERON:0002106	97.40	gold quality
vermiform appendix	UBERON:0001154	97.26	gold quality
lymph node	UBERON:0000029	97.05	gold quality
right lung	UBERON:0002167	94.68	gold quality
lower lobe of lung	UBERON:0008949	94.04	gold quality
caecum	UBERON:0001153	93.96	gold quality
epithelium of nasopharynx	UBERON:0001951	93.50	gold quality
periodontal ligament	UBERON:0008266	93.12	gold quality
gall bladder	UBERON:0002110	92.72	gold quality
rectum	UBERON:0001052	92.61	gold quality
colonic epithelium	UBERON:0000397	91.72	gold quality
tonsil	UBERON:0002372	91.47	gold quality
visceral pleura	UBERON:0002401	91.15	gold quality
superficial temporal artery	UBERON:0001614	90.40	gold quality
upper lobe of lung	UBERON:0008948	90.39	gold quality
upper lobe of left lung	UBERON:0008952	90.27	gold quality
lung	UBERON:0002048	90.00	gold quality
pleura	UBERON:0000977	88.82	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.97	gold quality
palpebral conjunctiva	UBERON:0001812	87.82	gold quality
germinal epithelium of ovary	UBERON:0001304	87.27	gold quality
parietal pleura	UBERON:0002400	87.22	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 16.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	57.74
E-HCAD-8	yes	57.44
E-MTAB-6701	yes	36.34
E-MTAB-8410	yes	32.42
E-GEOD-134144	yes	30.47
E-HCAD-10	yes	29.23
E-HCAD-11	yes	27.52
E-GEOD-135922	yes	26.60
E-MTAB-10287	yes	24.11
E-MTAB-6678	yes	24.03
E-CURD-112	yes	24.02
E-HCAD-9	yes	22.14
E-MTAB-9467	yes	21.60
E-ANND-3	yes	19.19
E-MTAB-8142	yes	17.19

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

53 targeting EVI2B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-4261	99.59	70.30	3415

Literature-anchored findings (GeneRIF, showing 3)

• EVI2B is significantly downregulated in human acute myeloid leukemia samples characterized by defects in CEBPA. (PMID:28186500)
• Assessment of Ecotropic Viral Integration Site 2B (EVI2B) Gene in Juvenile Myelomonocytic Leukemia and Neurofibromatosis Type 1 NF1 Tumors. (PMID:37584733)
• EVI2B may be a novel prognostic marker for lung adenocarcinoma. (PMID:37843407)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Evi2b	ENSMUSG00000093938
rattus_norvegicus	Evi2b	ENSRNOG00000014125

Protein

Protein identifiers

Protein EVI2B — P34910 (reviewed: P34910)

Alternative names: Ecotropic viral integration site 2B protein homolog

All UniProt accessions (1): P34910

UniProt curated annotations — full annotation on UniProt →

Function. Required for granulocyte differentiation and functionality of hematopoietic progenitor cells through the control of cell cycle progression and survival of hematopoietic progenitor cells.

Subcellular location. Membrane.

Tissue specificity. Bone marrow, peripheral blood mononuclear cells, fibroblasts and Epstein-Barr virus-transformed lymphoblastoid cell lines. Strongly expressed in granulocytic cells, and weakly on lymphocytes cells.

Induction. Up-regulated by full-length CEBPA.

Isoforms (2)

UniProt ID	Names	Canonical?
P34910-1	1	yes
P34910-2	2

RefSeq proteins (1): NP_006486* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033239	EVI2B	Family

UniProt features (22 total): modified residue 5, compositionally biased region 3, glycosylation site 3, region of interest 3, topological domain 2, signal peptide 1, chain 1, splice variant 1, sequence variant 1, sequence conflict 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P34910-F1	51.05	0.04

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (5): 249, 268, 271, 278, 294

Glycosylation sites (3): 16, 50, 114

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 314 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, WALLACE_PROSTATE_CANCER_RACE_UP, MCLACHLAN_DENTAL_CARIES_UP, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_MYELOID_CELL_DEVELOPMENT, MODULE_45, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, chr17q11, MODULE_313, GOBP_REGULATION_OF_LEUKOCYTE_DIFFERENTIATION, GOBP_STEM_CELL_DIVISION, GOBP_REGULATION_OF_HEMOPOIESIS, GOBP_REGULATION_OF_GRANULOCYTE_DIFFERENTIATION, GNF2_MCL1, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN

GO Biological Process (6): positive regulation of granulocyte differentiation (GO:0030854), negative regulation of apoptotic process (GO:0043066), positive regulation of neutrophil differentiation (GO:0045660), regulation of cell cycle (GO:0051726), myeloid cell development (GO:0061515), regulation of stem cell division (GO:2000035)

GO Molecular Function (0):

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of myeloid leukocyte differentiation	1
granulocyte differentiation	1
regulation of granulocyte differentiation	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
neutrophil differentiation	1
positive regulation of granulocyte differentiation	1
regulation of neutrophil differentiation	1
cell cycle	1
regulation of cellular process	1
hemopoiesis	1
myeloid cell differentiation	1
stem cell division	1
regulation of cell division	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1098 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EVI2B	EVI2A	P22794	973
EVI2B	OMG	P23515	857
EVI2B	RNF135	Q8IUD6	808
EVI2B	NF1	P21359	794
EVI2B	ADAP2	Q9NPF8	742
EVI2B	FHDC1	Q9C0D6	650
EVI2B	AK3	Q9UIJ7	647
EVI2B	AK4	P27144	640
EVI2B	SSH2	Q76I76	636
EVI2B	ATAD5	Q96QE3	619
EVI2B	COPRS	Q9NQ92	618
EVI2B	CRLF3	Q8IUI8	599
EVI2B	TEFM	Q96QE5	580
EVI2B	UTP6	Q9NYH9	568
EVI2B	RAB11FIP4	Q86YS3	556

IntAct

3 interactions, top by confidence:

A	B	Type	Score
EVI2B	SMC3	psi-mi:“MI:0915”(physical association)	0.400
EVI2B	TUSC3	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (34): EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid), EVI2B (Two-hybrid)

ESM2 similar proteins: A0A1B0GVN3, A0JPP4, A4H220, A4H221, A4H223, A4H257, A4H258, A4H259, A4H260, A6NHS7, E9Q7F5, P02727, P11450, P29560, P34910, P80195, P81447, Q00997, Q09337, Q2LCV6, Q2Y2M0, Q30KK0, Q30KK1, Q30KL5, Q5NRP9, Q5RAW4, Q65706, Q66H17, Q6UW49, Q7TST5, Q80YD3, Q810S2, Q86695, Q8N4C9, Q8VD58, Q95LI0, Q95LJ2, Q96KW9, Q98T88, Q98T89

Diamond homologs: P34910, Q8VD58

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

73 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	51
Likely benign	11
Benign	1

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	Pathogenic
660684	NC_000017.11:g.(?31248974)(31374165_?)del	Pathogenic
831517	NC_000017.11:g.(?31225075)(31360723_?)del	Pathogenic
374370	Single allele	Likely pathogenic

SpliceAI

746 predictions. Top by Δscore:

Variant	Effect	Δscore
17:31313977:ACC:A	donor_loss	1.0000
17:31305642:T:C	acceptor_gain	0.9900
17:31305642:T:TC	acceptor_gain	0.9900
17:31313977:A:AC	donor_gain	0.9900
17:31313978:C:CC	donor_gain	0.9900
17:31313978:CCT:C	donor_gain	0.9900
17:31314391:GAA:G	donor_gain	0.9900
17:31314394:G:GG	donor_gain	0.9900
17:31305644:A:C	acceptor_gain	0.9800
17:31305631:C:CC	acceptor_gain	0.9700
17:31314045:C:CC	acceptor_gain	0.9700
17:31305573:C:CT	acceptor_gain	0.9600
17:31305647:A:C	acceptor_gain	0.9600
17:31313974:CTTA:C	donor_loss	0.9600
17:31313977:ACCTC:A	donor_loss	0.9600
17:31313978:C:T	donor_loss	0.9600
17:31314040:TTTGG:T	acceptor_gain	0.9600
17:31305629:ATCT:A	acceptor_loss	0.9500
17:31305630:TC:T	acceptor_loss	0.9500
17:31305631:C:CA	acceptor_loss	0.9500
17:31305632:T:C	acceptor_loss	0.9500
17:31305647:A:AC	acceptor_gain	0.9500
17:31314111:C:CC	acceptor_gain	0.9500
17:31314041:TTGG:T	acceptor_gain	0.9400
17:31313983:G:C	donor_gain	0.9200
17:31313977:AC:A	donor_gain	0.9100
17:31313978:CC:C	donor_gain	0.9100
17:31314042:TGG:T	acceptor_gain	0.9100
17:31305628:TAT:T	acceptor_gain	0.9000
17:31305628:TATCT:T	acceptor_loss	0.9000

AlphaMissense

2912 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:31304896:C:A	W238C	0.994
17:31304896:C:G	W238C	0.994
17:31304898:A:G	W238R	0.991
17:31304898:A:T	W238R	0.991
17:31304878:A:C	F244L	0.983
17:31304878:A:T	F244L	0.983
17:31304880:A:G	F244L	0.983
17:31304891:C:T	G240D	0.957
17:31304897:C:G	W238S	0.957
17:31304879:A:C	F244C	0.956
17:31304984:C:T	G209D	0.955
17:31304985:C:G	G209R	0.953
17:31304892:C:G	G240R	0.945
17:31304879:A:G	F244S	0.944
17:31304876:G:T	A245D	0.940
17:31304891:C:A	G240V	0.939
17:31304874:C:G	D246H	0.936
17:31304882:G:T	P243Q	0.936
17:31304887:T:A	R241S	0.933
17:31304887:T:G	R241S	0.933
17:31304892:C:A	G240C	0.933
17:31304898:A:C	W238G	0.927
17:31304880:A:T	F244I	0.923
17:31304895:C:G	A239P	0.923
17:31304886:A:G	S242P	0.919
17:31304870:C:A	G247V	0.917
17:31304975:A:G	L212P	0.913
17:31304883:G:A	P243S	0.911
17:31305058:A:C	F184L	0.910
17:31305058:A:T	F184L	0.910

dbSNP variants (sampled 300 via entrez): RS1000448883 (17:31304457 C>T), RS1000515480 (17:31303556 T>C), RS1000659572 (17:31310385 G>A), RS1000948141 (17:31303294 G>A), RS1001224282 (17:31307748 AAC>A), RS1001326122 (17:31307476 T>C), RS1001337943 (17:31307395 G>C), RS1001391733 (17:31314136 A>G), RS1001620932 (17:31314892 G>A,C), RS1002342972 (17:31315772 T>G), RS1002343850 (17:31308866 C>G), RS1002946881 (17:31306006 T>A), RS1003013442 (17:31305822 A>G), RS1003094455 (17:31312492 C>T), RS1003109890 (17:31306170 A>C)

Disease associations

OMIM: gene MIM:158381 | disease phenotypes: MIM:162200

GenCC curated gene-disease

Mondo (2): neurofibromatosis type 1 (MONDO:0018975), intellectual disability (MONDO:0001071)

Orphanet (2): Neurofibromatosis type 1 (Orphanet:636), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST010135_18	Oily fish consumption	3.000000e-10
GCST010140_10	Pork consumption	3.000000e-10
GCST010703_342	Brain morphology (MOSTest)	4.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009456	Neurofibromatosis 1	C04.557.580.600.580.590.650; C04.700.631.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.633.650

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
testosterone undecanoate	affects cotreatment, decreases expression, increases expression	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
incobotulinumtoxinA	increases expression	1
Acetaminophen	increases expression	1
Gemcitabine	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Arbutin	decreases expression	1
Aspirin	increases expression	1
Calcitriol	increases expression	1
Chenodeoxycholic Acid	affects cotreatment, increases expression	1
Deoxycholic Acid	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Glycochenodeoxycholic Acid	affects cotreatment, increases expression	1
Glycocholic Acid	affects cotreatment, increases expression	1
Glycodeoxycholic Acid	affects cotreatment, increases expression	1
Lipopolysaccharides	affects response to substance, increases expression, decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Nickel	increases expression	1
Oxygen	increases expression	1
Ozone	affects expression, increases abundance	1
Tartrazine	affects cotreatment, increases expression	1
Theophylline	decreases expression	1

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00169611	PHASE4	COMPLETED	NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate
NCT03975829	PHASE4	RECRUITING	Pediatric Long-Term Follow-up and Rollover Study
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02471339	PHASE3	COMPLETED	Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain
NCT03871257	PHASE3	ACTIVE_NOT_RECRUITING	A Study of the Drugs Selumetinib Versus Carboplatin/Vincristine in Patients With Neurofibromatosis and Low-Grade Glioma
NCT04461886	PHASE3	TERMINATED	A Long-term Study of NPC-12G Gel in Neurofibromatosis Type I
NCT04924608	PHASE3	ACTIVE_NOT_RECRUITING	Efficacy and Safety of Selumetinib in Adults With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas
NCT05913037	PHASE3	ACTIVE_NOT_RECRUITING	FCN-159 in Adult Patients With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT00021541	PHASE2	COMPLETED	R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas
NCT00030264	PHASE2	COMPLETED	Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas
NCT00076102	PHASE2	COMPLETED	Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas
NCT00304083	PHASE2	COMPLETED	Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors
NCT00326872	PHASE2	TERMINATED	AZD2171 in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibroma and/or Neurofibroma Near the Spine
NCT00589784	PHASE2	COMPLETED	Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma
NCT00634270	PHASE2	COMPLETED	A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas
NCT00754780	PHASE2	COMPLETED	Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1
NCT00846430	PHASE2	COMPLETED	Medical Treatment of High-Risk Neurofibromas
NCT00853580	PHASE2	COMPLETED	A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1
NCT01125046	PHASE2	COMPLETED	Bevacizumab in Treating Patients With Recurrent or Progressive Meningiomas
NCT01402817	PHASE2	TERMINATED	Study of Sutent®/Sunitinib (SU11248) in Subjects With NF-1 Plexiform Neurofibromas
NCT01412892	PHASE2	COMPLETED	Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas
NCT01553149	PHASE2	COMPLETED	Low-Dose or High-Dose Lenalidomide in Treating Younger Patients With Recurrent, Refractory, or Progressive Pilocytic Astrocytoma or Optic Pathway Glioma
NCT01673009	PHASE2	COMPLETED	Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas
NCT01968590	PHASE2	TERMINATED	Vitamin D Supplementation for Adults With Neurofibromatosis Type 1 (NF1)
NCT02096471	PHASE2	COMPLETED	MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1
NCT02101736	PHASE2	COMPLETED	Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults
NCT02332902	PHASE2	COMPLETED	Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T
NCT02407405	PHASE2	ACTIVE_NOT_RECRUITING	MEK 1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas
NCT02728388	PHASE2	RECRUITING	Photodynamic Therapy for Benign Dermal Neurofibromas- Phase II
NCT02839720	PHASE2	COMPLETED	Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma
NCT02964884	PHASE2	ACTIVE_NOT_RECRUITING	Interventions for Reading Disabilities in NF1
NCT03090971	PHASE2	COMPLETED	Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1
NCT03109301	PHASE2	WITHDRAWN	Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST)
NCT03190915	PHASE2	ACTIVE_NOT_RECRUITING	Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia
NCT03231306	PHASE2	COMPLETED	Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas
NCT03433183	PHASE2	COMPLETED	SARC031: MEK Inhibitor Selumetinib (AZD6244) in Combination With the mTOR Inhibitor Sirolimus for Patients With Malignant Peripheral Nerve Sheath Tumors