MCID: MLN009
MIFTS: 36

Melanotic Neurilemmoma

Categories: Cancer diseases, Neuronal diseases
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Aliases & Classifications for Melanotic Neurilemmoma

MalaCards integrated aliases for Melanotic Neurilemmoma:

Name: Melanotic Neurilemmoma 11 14 71
Melanotic Schwannoma 11 5
Pigmented Neurilemmoma 11
Pigmented Schwannoma 11

Classifications:



External Ids:

Disease Ontology 11 DOID:3205
NCIt 49 C6970
SNOMED-CT 68 253088003
UMLS 71 C1306247

Summaries for Melanotic Neurilemmoma

MalaCards based summary: Melanotic Neurilemmoma, also known as melanotic schwannoma, is related to neurilemmoma and cellular schwannoma. An important gene associated with Melanotic Neurilemmoma is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include spinal cord, pancreas and skin, and related phenotypes are Decreased viability and Increased proliferation

Related Diseases for Melanotic Neurilemmoma

Diseases related to Melanotic Neurilemmoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 238)
# Related Disease Score Top Affiliating Genes
1 neurilemmoma 31.4 SOX10 SMARCB1 PRKAR1A NF2 MLANA
2 cellular schwannoma 30.3 SOX10 SMARCB1 NF2
3 clear cell sarcoma 30.2 SOX10 SMARCB1 MLANA
4 neurofibroma 30.1 SOX10 NF2 MLANA
5 plexiform schwannoma 30.0 SOX10 SMARCB1 NF2
6 neurilemmomatosis 30.0 SOX10 SMARCB1 PRKAR1A NF2
7 malignant choroid melanoma 29.9 MLANA GNAQ GNA11
8 choroid cancer 29.9 MLANA GNAQ GNA11
9 inherited cancer-predisposing syndrome 29.9 SMARCB1 PRKAR1A NF2
10 bap1 tumor predisposition syndrome 29.8 SMARCB1 PRKAR1A NF2
11 melanoma, uveal 29.6 SOX10 MLANA GNAQ GNA11
12 carney complex variant 29.4 PRL PRKAR1B PRKAR1A PRKACB POMC PDE8B
13 meningioma, familial 29.1 SOX10 SMARCB1 PRL PRKAR1A POMC NF2
14 conn's syndrome 27.9 PRL PRKAR1B PRKAR1A PRKACB POMC PDE8B
15 mediastinal melanocytic neurilemmoma 11.2
16 isolated melanotic schwannoma 11.2
17 melanoma 10.6
18 rare tumor 10.5
19 pigmentation anomaly of the skin 10.4
20 peripheral nervous system neoplasm 10.3
21 full schwannomatosis 10.3 SMARCB1 NF2
22 posterior pituitary gland neoplasm 10.3 SMARCB1 NF2
23 childhood meningioma 10.3 SMARCB1 NF2
24 peripheral nerve schwannoma 10.3 SMARCB1 NF2
25 pineal region meningioma 10.3 SMARCB1 NF2
26 cerebral falx meningioma 10.3 SMARCB1 NF2
27 parasagittal meningioma 10.3 SMARCB1 NF2
28 cerebral convexity meningioma 10.3 SMARCB1 NF2
29 optic nerve sheath meningioma 10.3 SMARCB1 NF2
30 schwannomatosis 1 10.3 SMARCB1 NF2
31 olfactory groove meningioma 10.3 SMARCB1 NF2
32 cerebellopontine angle tumor 10.3 SMARCB1 NF2
33 anterior cranial fossa meningioma 10.3 SMARCB1 NF2
34 chordoid meningioma 10.3 SMARCB1 NF2
35 brain meningioma 10.3 SMARCB1 NF2
36 transitional meningioma 10.3 SMARCB1 NF2
37 small intestine leiomyoma 10.3 NF2 MLANA
38 juvenile type testicular granulosa cell tumor 10.3 SMARCB1 MLANA
39 testicular granulosa cell tumor 10.3 SMARCB1 MLANA
40 secretory meningioma 10.3 SMARCB1 NF2
41 conjunctival pigmentation 10.3 SOX10 MLANA
42 optic nerve neoplasm 10.3 SMARCB1 NF2
43 sarcomatoid renal cell carcinoma 10.3 NF2 MLANA
44 rhabdoid meningioma 10.3 SMARCB1 NF2
45 skull base meningioma 10.3 SMARCB1 NF2
46 sarcoid meningitis 10.3 NF2 MLANA
47 spinal canal and spinal cord meningioma 10.3 SMARCB1 NF2
48 spinal meningioma 10.3 SMARCB1 NF2
49 malignant granular cell myoblastoma 10.3 SOX10 MLANA
50 meningothelial meningioma 10.3 SMARCB1 NF2

Graphical network of the top 20 diseases related to Melanotic Neurilemmoma:



Diseases related to Melanotic Neurilemmoma

Symptoms & Phenotypes for Melanotic Neurilemmoma

GenomeRNAi Phenotypes related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-3 10.1 NF2
2 Decreased viability GR00221-A-1 10.1 PRKACB PRKAR1A PRKAR1B SMARCB1
3 Decreased viability GR00221-A-2 10.1 PRKAR1A PRKAR1B SMARCB1
4 Decreased viability GR00221-A-3 10.1 PRKAR1A PRKAR1B SMARCB1 NF2
5 Decreased viability GR00221-A-4 10.1 PRKAR1A
6 Decreased viability GR00249-S 10.1 SMARCB1 NF2
7 Decreased viability GR00381-A-1 10.1 SMARCB1
8 Increased proliferation GR00094-A 8.62 NF2 SMARCB1

MGI Mouse Phenotypes related to Melanotic Neurilemmoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.96 GNA11 GNAQ NF2 PDE11A POMC PRKACB
2 pigmentation MP:0001186 9.91 GNA11 GNAQ MLANA NF2 POMC PRKAR1A
3 neoplasm MP:0002006 9.8 NF2 POMC PRKAR1A PRL SMARCB1 SOX10
4 endocrine/exocrine gland MP:0005379 9.76 GNA11 GNAQ NF2 PDE11A POMC PRKAR1A
5 behavior/neurological MP:0005386 9.73 GNA11 GNAQ GPR101 NF2 PDE11A POMC
6 integument MP:0010771 9.32 GNA11 GNAQ MLANA NF2 POMC PRKAR1A

Drugs & Therapeutics for Melanotic Neurilemmoma

Search Clinical Trials, NIH Clinical Center for Melanotic Neurilemmoma

Genetic Tests for Melanotic Neurilemmoma

Anatomical Context for Melanotic Neurilemmoma

Organs/tissues related to Melanotic Neurilemmoma:

MalaCards : Spinal Cord, Pancreas, Skin, Uterus, Ovary, Bone, Brain

Publications for Melanotic Neurilemmoma

Articles related to Melanotic Neurilemmoma:

(show top 50) (show all 237)
# Title Authors PMID Year
1
A Rare Case of Melanotic Schwannoma Occurred Intraosseous of Sacrum: A Literature Review. 62
36453472 2022
2
Magnetic resonance imaging features and clinical course of malignant melanotic nerve sheath tumors: single institution experience over two decades. 62
36069993 2022
3
Trigeminal Nerve Melanotic Schwannoma in Carney Complex. 62
36177281 2022
4
Primary Mesenchymal Tumors of the Thyroid Gland: A Modern Retrospective Cohort Including the First Case of TFE3-Translocated Malignant Perivascular Epithelioid Cell Tumor (PEComa). 62
35218514 2022
5
Malignant melanotic nerve sheath tumors in the spinal canal of psammomatous and non-psammomatous type: Two case reports. 62
36157803 2022
6
A challenging case of sporadic melanocytoma of the jugular foramen. 62
34157339 2022
7
A para-aortic malignant melanotic nerve sheath tumor mimicking a gastrointestinal stromal tumor: a rare case report and review of literature. 62
35902891 2022
8
MET/HGF Coexpression as a Novel Predictive Biomarker for Response to MET Inhibitor Therapy in a Case of Psammomatous Melanotic Schwannoma. 62
35675576 2022
9
Gastrointestinal: Melanotic schwannoma of the pancreas associated with Carney complex: A cause of acute neoplastic symptom. 62
35615762 2022
10
Post-operative Stereotactic Radiosurgery of Malignant Melanotic Schwannoma. 62
35399431 2022
11
Malignant psammomatous melanotic schwannoma mimicking adrenal cyst: case report. 62
35818469 2022
12
Retroperitoneal Recurrence of Melanotic Schwannoma on 18F-FDG PET/CT. 62
34560691 2021
13
Cutaneous Melanotic Schwannoma in a Pediatric Patient. 62
34743119 2021
14
Dermatological and endocrine elements in Carney complex (Review). 62
34630667 2021
15
Asymptomatic Left Ventricular Malignant Psammomatous Melanotic Schwannoma. 62
34401703 2021
16
L3 rootlet recurrent melanocytic schwannoma - case report and literature review. 62
34196157 2021
17
Can Discord Domain-Containing Receptor 2 Mutation Act as a Disease Modifier for PRKAR1A Associated Melanotic Schwannoma? 62
34248546 2021
18
Psammomatous melanotic schwannoma - a rare neck lump. 62
33682474 2021
19
MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene. 62
33444222 2021
20
Diagnostic Pathology of Tumors of Peripheral Nerve. 62
33588442 2021
21
Novel response to neoadjuvant anti-PD1 therapy for a patient with retrocaval melanotic schwannoma. 62
33323721 2021
22
18F-FDG PET/CT imaging for aggressive melanotic schwannoma of the L3 spinal root: A case report. 62
33663098 2021
23
Hemorrhagic spinal melanotic schwannoma presenting as acute chest pain: A case report and literature review. 62
33948334 2021
24
Fine-needle aspiration cytology of melanotic schwannoma in the submandibular gland. 62
32583622 2021
25
Melanotic Schwannoma, a Deceptive Misnomer for a Tumor With Relative Aggressive Behavior: A Series of 7 Cranial and Spinal Cases. 62
32456496 2020
26
Extramedullary malignant melanotic schwannoma of the spine: Case report and an up to date systematic review of the literature. 62
33088497 2020
27
Peripheral Nerve Sheath Tumors of Head and Neck: Imaging-Based Review of World Health Organization Classification. 62
33196600 2020
28
Clinical characteristics and treatment outcomes of pigmented tumors in central nervous system: Focusing on melanocytic tumors. 62
33222976 2020
29
Primary melanotic tumors of the nervous system: a consecutive case series. 62
32654331 2020
30
Dark as night: Spelunking for spinal solitary fibrous tumors/hemangiopericytomas in the differential of T2 hypointensity. 62
32507710 2020
31
Extramedullary melanotic schwannoma recurrence in the cervical vertebral arch: a case report and review of the literature. 62
32809891 2020
32
Intraosseous Melanotic Schwannoma in the Sacrum Mimicking Primary Bone Tumor. 62
32695557 2020
33
A Rare Case of Hemorrhagic Melanotic Schwannoma in a 38-year-old Female. 62
33145235 2020
34
Melanotic Schwannoma of the Vulva: A Case Report and Review of the Literature. 62
31268928 2020
35
A Rare Case of Intraspinal Psammomatous Melanotic Schwannoma: A Case Report. 62
32039305 2020
36
Malign melanotic schwannoma of pancreatic metastasis. 62
33425307 2020
37
Brain and spine melanotic schwannoma: A rare occurrence and diagnostic dilemma. 62
31094649 2019
38
Melanotic Schwannoma: Two Cases of Rare Lesions. 62
29740763 2019
39
Intradural Extramedullary Spinal Neoplasms: Radiologic-Pathologic Correlation. 62
30844353 2019
40
Cutaneous myxomas and a psammomatous melanotic schwannoma in a patient with Carney complex. 62
30632654 2019
41
Pigmented Melanotic Schwannoma of the Neck: Report of 2 Cases and Review of the Literature. 62
30884998 2019
42
Melanotic Schwannoma of the Vagina: A Report of a Very Rare Tumor and Review of the Literature. 62
31316847 2019
43
Pathology of Melanotic Schwannoma. 62
29372846 2018
44
Malignant intercostal psammomatous melanotic schwannoma in a patient with Carney complex. 62
29132201 2018
45
What Tactics Should a Surgeon Choose to Treat a Black Extracerebral Tumor? A Case Report of Psammomatous Melanotic Schwannoma of the Meckel Cave and Literature Review. 62
29715570 2018
46
Melanotic Schwannoma of Spine: Illustration of Two Cases with Diverse Clinical Presentation and Outcome. 62
30283573 2018
47
A Rare Case of Melanotic Schwannoma: Utility of Susceptibility Weighted Sequences in Preoperative Imaging. 62
30280064 2018
48
Invasive intramedullary melanotic schwannoma: case report and review of the literature. 62
28695275 2018
49
Intramedullary melanotic schwannoma of the cervical spine: A case report and literature review. 62
29564131 2018
50
Laparoscopic resection of a giant retroperitoneal melanotic schwannoma. 62
29599963 2018

Variations for Melanotic Neurilemmoma

ClinVar genetic disease variations for Melanotic Neurilemmoma:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCB1 NM_003073.5(SMARCB1):c.*82C>T SNV Pathogenic
239481 rs878854600 GRCh37: 22:24176449-24176449
GRCh38: 22:23834262-23834262

Expression for Melanotic Neurilemmoma

Search GEO for disease gene expression data for Melanotic Neurilemmoma.

Pathways for Melanotic Neurilemmoma

Pathways related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1 13.63 PRKAR1B PRKAR1A PRKACB POMC PDE8B PDE11A
2
Show member pathways
13.48 PRKAR1B PRKAR1A PRKACB POMC PDE8B PDE11A
3
Show member pathways
13.38 GNA11 GNAQ NF2 PRKACB PRKAR1A PRKAR1B
4
Show member pathways
13.19 PRKAR1B PRKAR1A PRKACB PDE11A GNAQ GNA11
5
Show member pathways
13.17 PRKAR1B PRKAR1A PRKACB PDE8B GNAQ GNA11
6
Show member pathways
12.59 PRKAR1B PRKAR1A PRKACB POMC GNA11
7
Show member pathways
12.57 PRKAR1B PRKAR1A PRKACB GNA11
8
Show member pathways
12.57 PRKAR1B PRKAR1A PRKACB POMC GNAQ GNA11
9
Show member pathways
12.56 PRKAR1B PRKAR1A PRKACB GNAQ GNA11
10
Show member pathways
12.53 GNA11 GNAQ PRKACB PRKAR1A PRKAR1B
11
Show member pathways
12.42 PRKAR1B PRKAR1A PRKACB GNAQ GNA11
12
Show member pathways
12.39 PRKAR1B PRKAR1A PRKACB GNAQ GNA11
13 12.38 PRKAR1B PRKAR1A POMC NF2 GNAQ GNA11
14
Show member pathways
12.18 GNA11 GNAQ PRKACB PRKAR1A PRKAR1B
15
Show member pathways
12.12 GNA11 PRKACB PRKAR1A PRKAR1B
16
Show member pathways
12.08 PRKAR1B PRKAR1A PRKACB
17 12.08 PRKAR1B PRKAR1A PRKACB
18 12.06 PRKAR1B PRKAR1A PRKACB
19
Show member pathways
12.02 SMARCB1 PRKAR1B PRKAR1A PRKACB GNA11
20 11.96 PRKAR1B PRKAR1A GNAQ GNA11
21
Show member pathways
11.88 PRKAR1B PRKAR1A PRKACB
22
Show member pathways
11.84 PRKAR1B PRKAR1A PRKACB POMC PDE8B PDE11A
23
Show member pathways
11.81 GNA11 GNAQ PRKACB PRKAR1A PRKAR1B
24 11.8 GNA11 GNAQ POMC
25 11.77 PRKAR1B PRKAR1A PRKACB
26
Show member pathways
11.73 PRKAR1B PRKAR1A PRKACB GNAQ
27 11.69 PRKAR1B PRKAR1A PRKACB
28 11.64 GNA11 GNAQ PRKACB PRKAR1A PRKAR1B
29 11.53 PRKAR1B PRKAR1A PRKACB
30 11.5 PRKAR1B PRKAR1A PRKACB
31 11.47 PRKAR1B PRKAR1A PRKACB
32 11.31 PRKAR1B PRKAR1A PRKACB
33 11.3 PRKAR1B PRKAR1A PRKACB
34 11.26 PRKAR1B PRKAR1A PRKACB
35 11.05 PRKAR1B PRKAR1A PRKACB
36 11 GNAQ GNA11
37 11 PRKACB POMC MLANA GNAQ
38
Show member pathways
10.99 PRKAR1B PRKAR1A PRKACB
39 10.97 PRL POMC
40 10.97 SOX10 PRKAR1B PRKAR1A PRKACB POMC
41 10.61 PRKAR1B PRKAR1A PRKACB GNAQ GNA11

GO Terms for Melanotic Neurilemmoma

Cellular components related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary base GO:0097546 9.43 PRKAR1B PRKAR1A PRKACB
2 cAMP-dependent protein kinase complex GO:0005952 9.1 PRKAR1B PRKAR1A PRKACB

Biological processes related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.18 PRL PRKACB POMC PDE8B PDE11A GPR101
2 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.73 GNAQ GNA11
3 negative regulation of protein kinase activity GO:0006469 9.72 GNAQ NF2 PRKAR1A
4 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.71 PRKAR1B PRKAR1A
5 phototransduction, visible light GO:0007603 9.56 GNAQ GNA11
6 negative regulation of Schwann cell proliferation GO:0010626 9.46 SOX10 NF2
7 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.43 PRKACB GNAQ GNA11
8 entrainment of circadian clock GO:0009649 8.92 GNAQ GNA11

Molecular functions related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 9.73 POMC GNAQ GNA11
2 protein kinase A catalytic subunit binding GO:0034236 9.62 PRKAR1B PRKAR1A
3 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.46 PRKAR1B PRKAR1A
4 guanyl nucleotide binding GO:0019001 8.96 GNAQ GNA11
5 cAMP-dependent protein kinase regulator activity GO:0008603 8.92 PRKAR1B PRKAR1A

Sources for Melanotic Neurilemmoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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