MCID: LPF001
MIFTS: 31

Lipofibromatosis-Like Neural Tumor

Categories: Cancer diseases
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Aliases & Classifications for Lipofibromatosis-Like Neural Tumor

MalaCards integrated aliases for Lipofibromatosis-Like Neural Tumor:

Name: Lipofibromatosis-Like Neural Tumor 11 14 75

Classifications:



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Disease Ontology 11 DOID:0080894

Summaries for Lipofibromatosis-Like Neural Tumor

Disease Ontology: 11 A connective tissue cancer that has material basis in LMNA-NTRK1 gene fusion.

MalaCards based summary: Lipofibromatosis-Like Neural Tumor is related to fibrosarcoma and malignant spindle cell melanoma. An important gene associated with Lipofibromatosis-Like Neural Tumor is NTRK1 (Neurotrophic Receptor Tyrosine Kinase 1), and among its related pathways/superpathways are NF-kappaB Pathway and MAPK Signaling: Mitogens. Related phenotypes are normal and nervous system

Wikipedia: 75 Lipofibromatosis-like neural tumor (LPF-NT) is an extremely rare soft tissue tumor first described by... more...

Related Diseases for Lipofibromatosis-Like Neural Tumor

Diseases related to Lipofibromatosis-Like Neural Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 fibrosarcoma 30.6 NTRK3 NTRK1 ETV6
2 malignant spindle cell melanoma 30.3 SOX10 CD34
3 mesenchymal cell neoplasm 30.0 TPM3 NTRK3 NTRK1 ETV6 CD34
4 adult fibrosarcoma 29.8 NTRK3 MAML3 ETV6 CD34
5 infantile myofibromatosis 29.4 TPM3 SPECC1L SOX10 NTRK3 NTRK2 NTRK1
6 congenital fibrosarcoma 28.4 VGLL2 TPM3 SPECC1L NTRK3 NTRK2 NTRK1
7 malignant peripheral nerve sheath tumor 10.4
8 dermatofibrosarcoma protuberans 10.3
9 nephroma 10.2 NTRK3 ETV6
10 pulmonary plasma cell granuloma 10.2 TPM3 LMNA
11 pregnancy adenoma 10.2 NTRK3 ETV6
12 parotid gland cancer 10.2 NTRK3 ETV6
13 lipid-rich carcinoma 10.2 NTRK3 ETV6
14 breast secretory carcinoma 10.2 NTRK3 ETV6
15 breast adenoid cystic carcinoma 10.2 NTRK3 ETV6
16 pleomorphic adenoma carcinoma 10.2 NTRK3 ETV6
17 kidney fibrosarcoma 10.2 NTRK3 ETV6
18 breast juvenile papillomatosis 10.2 NTRK3 ETV6
19 spiradenoma 10.2 SOX10 NTRK3
20 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 10.1
21 bednar tumor 10.1
22 spitzoid melanoma 10.1 TPM3 NTRK3 NTRK1
23 kidney benign neoplasm 10.1 NTRK3 ETV6
24 central nervous system leukemia 10.1 ETV6 CD34
25 neurofibroma of the esophagus 10.1 SOX10 CD34
26 salivary gland adenoid cystic carcinoma 10.1 SOX10 NTRK3
27 plexiform schwannoma 10.1 SOX10 CD34
28 fallopian tube clear cell adenocarcinoma 10.1 NTRK2 NTRK1
29 differentiated thyroid carcinoma 10.1 NTRK3 NTRK1 ETV6
30 anhidrosis 10.1 NTRK3 NTRK1
31 intraneural perineurioma 10.1 SOX10 CD34
32 cellular schwannoma 10.1 SOX10 CD34
33 epithelioid malignant peripheral nerve sheath tumor 10.1 SOX10 CD34
34 acinar cell carcinoma 10.1 NTRK3 ETV6
35 monophasic synovial sarcoma 10.1 SOX10 CD34
36 sarcomatoid squamous cell skin carcinoma 10.1 SOX10 CD34
37 acute basophilic leukemia 10.1 ETV6 CD34
38 congenital granular cell tumor 10.1 SOX10 CD34
39 intravascular fasciitis 10.1 SOX10 CD34
40 solitary fibrous tumor/hemangiopericytoma 10.1 SOX10 CD34
41 adult malignant schwannoma 10.1 SOX10 CD34
42 small intestine leiomyosarcoma 10.1 SOX10 CD34
43 neurofibrosarcoma 10.0 SOX10 CD34
44 sweat gland benign neoplasm 10.0 SOX10 CD34
45 epithelial-myoepithelial carcinoma 10.0 SOX10 NTRK3 ETV6
46 mixed lacrimal gland cancer 10.0 SOX10 NTRK3 ETV6
47 perivascular tumor 10.0 SOX10 CD34
48 myelodysplastic/myeloproliferative neoplasm 10.0 ETV6 CD34
49 tonsil cancer 10.0 SOX10 NTRK3 ETV6
50 salivary gland disease 10.0 SOX10 NTRK3 ETV6

Graphical network of the top 20 diseases related to Lipofibromatosis-Like Neural Tumor:



Diseases related to Lipofibromatosis-Like Neural Tumor

Symptoms & Phenotypes for Lipofibromatosis-Like Neural Tumor

MGI Mouse Phenotypes related to Lipofibromatosis-Like Neural Tumor:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.5 ETV6 LMNA MAML3 NTRK1 NTRK2 NTRK3
2 nervous system MP:0003631 9.23 LMNA MAML3 NTRK1 NTRK2 NTRK3 SOX10

Drugs & Therapeutics for Lipofibromatosis-Like Neural Tumor

Search Clinical Trials, NIH Clinical Center for Lipofibromatosis-Like Neural Tumor

Genetic Tests for Lipofibromatosis-Like Neural Tumor

Anatomical Context for Lipofibromatosis-Like Neural Tumor

Publications for Lipofibromatosis-Like Neural Tumor

Articles related to Lipofibromatosis-Like Neural Tumor:

(show all 16)
# Title Authors PMID Year
1
An NTRK-1-associated soft tissue tumor showing distinctive nodules with peripheral accentuation of cellularity. 62
36335562 2022
2
NTRK-rearranged spindle cell neoplasm of the lower extremity: radiologic-pathologic correlation. 62
35031835 2022
3
Dermal lipofibromatosis-like neural tumor. 62
35195930 2022
4
BRAF-rearranged spindle cell mesenchymal neoplasm with a predominant lipofibromatosis-like neural tumor pattern and co-expression of CD34, S100 protein, and markers associated with perineurial differentiation: A rare case with potential diagnostic pitfall. 62
34632612 2022
5
Case report: ALK-rearranged spindle and epithelioid cell neoplasms with S100 and CD34 co-expression: Additional evidence of kinase fusion-positive soft tissue tumors. 62
36387173 2022
6
[Lipofibromatosis-like neural tumor: report of a case]. 62
34496504 2021
7
Unusual Presentation of Lipofibromatosis-Like Neural Tumor in an Adult: A Case Report. 62
34667475 2021
8
Update on Superficial Spindle Cell Mesenchymal Tumors in Children. 62
34449590 2021
9
[Lipofibromatosis-like neural tumor: report of a case]. 62
33677895 2021
10
LMNA-NTRK1 rearranged mesenchymal tumor (lipofibromatosis-like neural tumor) mimicking pigmented dermatofibrosarcoma protuberans. 62
32519338 2021
11
[Clinicopathological and molecular genetic features of lipofibromatosis-like neural tumor]. 62
33287512 2020
12
Lipofibromatosis-Like Neural Tumor: A Case Report and Review of the Literature. 62
32618702 2020
13
Soft tissue tumors characterized by a wide spectrum of kinase fusions share a lipofibromatosis-like neural tumor pattern. 62
32506523 2020
14
An addition to the evolving spectrum of lipofibromatosis and lipofibromatosis-like neural tumor: Molecular findings in an unusual phenotype aid in accurate classification. 62
32299759 2020
15
Successful treatment of lipofibromatosis-like neural tumor of the lumbar spine with an NTRK-fusion inhibitor. 62
32782782 2020
16
Lipofibromatosis-like neural tumor: Case report of a unique infantile presentation. 62
29892662 2018

Variations for Lipofibromatosis-Like Neural Tumor

Cosmic variations for Lipofibromatosis-Like Neural Tumor:

8 (show top 50) (show all 337)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM143156898 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.376G>A p.E126K 17:7673767-7673767 2
2 COSM111758616 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.713G>A p.C238Y 17:7674250-7674250 2
3 COSM143384267 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.656A>C p.E219A 17:7674190-7674190 2
4 COSM105621014 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.96+1G>A p.? 17:7676381-7676381 2
5 COSM142581311 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.704T>C p.V235A 17:7673799-7673799 2
6 COSM142560073 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.542A>G p.Y181C 17:7674872-7674872 2
7 COSM106053265 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.853G>A p.E285K 17:7673767-7673767 2
8 COSM144316114 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.400G>A p.V134M 17:7675095-7675095 2
9 COSM143370705 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.542A>G p.Y181C 17:7674872-7674872 2
10 COSM121876031 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.317G>A p.C106Y 17:7674250-7674250 2
11 COSM93183674 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.713G>A p.C238Y 17:7674250-7674250 2
12 COSM144651221 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.736G>A p.E246K 17:7673767-7673767 2
13 COSM143156869 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.236G>A p.C79Y 17:7674250-7674250 2
14 COSM111780488 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.821T>C p.V274A 17:7673799-7673799 2
15 COSM105620321 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.713G>A p.C238Y 17:7674250-7674250 2
16 COSM142838860 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.833C>A p.P278H 17:7673787-7673787 2
17 COSM93185679 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.833C>A p.P278H 17:7673787-7673787 2
18 COSM112254242 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.96+1G>A p.? 17:7676381-7676381 2
19 COSM144013959 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.502C>T p.H168Y 17:7675077-7675077 2
20 COSM144033042 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.788T>C p.V263A 17:7673799-7673799 2
21 COSM122278673 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.121G>A p.V41M 17:7675095-7675095 2
22 COSM122271391 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.263A>G p.Y88C 17:7674872-7674872 2
23 COSM111762096 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.832C>G p.P278A 17:7673788-7673788 2
24 COSM143370962 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.736G>A p.E246K 17:7673767-7673767 2
25 COSM145029562 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.656A>C p.E219A 17:7674190-7674190 2
26 COSM143162941 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.40G>A p.V14M 17:7675095-7675095 2
27 COSM106053184 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.829T>G p.C277G 17:7673791-7673791 2
28 COSM143943833 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.236G>A p.C79Y 17:7674250-7674250 2
29 COSM105622587 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.782+394C>A p.? 17:7673787-7673787 2
30 COSM143159469 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.355C>G p.P119A 17:7673788-7673788 2
31 COSM143373039 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.716C>A p.P239H 17:7673787-7673787 2
32 COSM122744599 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.565A>T p.K189* 17:7673567-7673567 2
33 COSM87898343 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.829T>G p.C277G 17:7673791-7673791 2
34 COSM143370860 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.712T>G p.C238G 17:7673791-7673791 2
35 COSM87900710 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.833C>A p.P278H 17:7673787-7673787 2
36 COSM143944441 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.58C>T p.H20Y 17:7675077-7675077 2
37 COSM106053221 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.713G>A p.C238Y 17:7674250-7674250 2
38 COSM144651747 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.418C>T p.H140Y 17:7675077-7675077 2
39 COSM144013358 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.796T>G p.C266G 17:7673791-7673791 2
40 COSM143156731 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.182A>G p.Y61C 17:7674872-7674872 2
41 COSM112264430 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.961A>T p.K321* 17:7673567-7673567 2
42 COSM143963152 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.344T>C p.V115A 17:7673799-7673799 2
43 COSM145028698 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.844A>T p.K282* 17:7673567-7673567 2
44 COSM144327798 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.704T>C p.V235A 17:7673799-7673799 2
45 COSM142570943 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.844A>T p.K282* 17:7673567-7673567 2
46 COSM112256366 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.832C>G p.P278A 17:7673788-7673788 2
47 COSM112254176 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.535C>T p.H179Y 17:7675077-7675077 2
48 COSM93195964 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.773A>C p.E258A 17:7674190-7674190 2
49 COSM111771883 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.773A>C p.E258A 17:7674190-7674190 2
50 COSM145025304 TP53 soft tissue,nerve sheath,malignant peripheral nerve sheath tumour,NS c.400G>A p.V134M 17:7675095-7675095 2

Expression for Lipofibromatosis-Like Neural Tumor

Search GEO for disease gene expression data for Lipofibromatosis-Like Neural Tumor.

Pathways for Lipofibromatosis-Like Neural Tumor

Pathways related to Lipofibromatosis-Like Neural Tumor according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.99 NTRK3 NTRK2 NTRK1
2
Show member pathways
11.81 NTRK3 NTRK2 NTRK1 LMNA
3 11.61 NTRK3 NTRK2 NTRK1
4 11.19 NTRK3 NTRK2 NTRK1
5 11.06 NTRK3 NTRK2 NTRK1
6
Show member pathways
10.86 NTRK3 NTRK2 NTRK1
7 10.45 NTRK3 NTRK2 NTRK1

GO Terms for Lipofibromatosis-Like Neural Tumor

Biological processes related to Lipofibromatosis-Like Neural Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.1 SOX10 NTRK3 NTRK2 LMNA CD34
2 positive regulation of neuron projection development GO:0010976 9.93 NTRK3 NTRK2 NTRK1
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.91 NTRK3 NTRK2 NTRK1
4 positive regulation of kinase activity GO:0033674 9.85 NTRK1 NTRK2 NTRK3
5 cellular response to nerve growth factor stimulus GO:1990090 9.63 NTRK3 NTRK2 NTRK1
6 mechanoreceptor differentiation GO:0042490 9.56 NTRK2 NTRK1
7 multicellular organism development GO:0007275 9.5 NTRK3 NTRK2 NTRK1
8 regulation of protein kinase B signaling GO:0051896 9.43 NTRK3 NTRK2 NTRK1
9 neurotrophin signaling pathway GO:0038179 9.02 NTRK3 NTRK2 NTRK1

Molecular functions related to Lipofibromatosis-Like Neural Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.63 NTRK3 NTRK2 NTRK1
2 protein tyrosine kinase activity GO:0004713 9.62 NTRK3 NTRK2 NTRK1
3 GPI-linked ephrin receptor activity GO:0005004 9.56 NTRK3 NTRK1
4 neurotrophin binding GO:0043121 9.43 NTRK3 NTRK2 NTRK1
5 neurotrophin receptor activity GO:0005030 9.1 NTRK3 NTRK2 NTRK1

Sources for Lipofibromatosis-Like Neural Tumor

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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