MCID: CNG023
MIFTS: 42

Congenital Fibrosarcoma

Categories: Bone diseases, Cancer diseases, Rare diseases

Aliases & Classifications for Congenital Fibrosarcoma

MalaCards integrated aliases for Congenital Fibrosarcoma:

Name: Congenital Fibrosarcoma 12 15
Infantile Fibrosarcoma 12 6 71

Classifications:



External Ids:

Disease Ontology 12 DOID:8418
NCIt 49 C4244
SNOMED-CT 67 403996004 52040006
UMLS 71 C0334459

Summaries for Congenital Fibrosarcoma

MalaCards based summary : Congenital Fibrosarcoma, also known as infantile fibrosarcoma, is related to fibromatosis and infantile digital fibromatosis. An important gene associated with Congenital Fibrosarcoma is ETV6 (ETS Variant Transcription Factor 6), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Actin Nucleation by ARP-WASP Complex. The drugs Entrectinib and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and tongue, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Congenital Fibrosarcoma

Diseases in the Fibrosarcoma family:

Adult Fibrosarcoma Congenital Fibrosarcoma

Diseases related to Congenital Fibrosarcoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 234)
# Related Disease Score Top Affiliating Genes
1 fibromatosis 30.8 VIM DES ACTC1
2 infantile digital fibromatosis 30.6 VIM DES
3 nephroma 30.5 NTRK3 ETV6 DES ACTC1
4 infantile myofibromatosis 30.4 VIM NTRK3 ETV6 DES ACTC1
5 breast secretory carcinoma 30.4 SERPINA3 NTRK3 ETV6
6 rhabdoid tumor predisposition syndrome 1 30.4 VIM DES ACTC1
7 fasciitis 30.3 VIM ETV6 ACTC1
8 fibrosarcoma 30.3 VIM NTRK3 NTRK1 EWSR1 ETV6 DES
9 malignant mesenchymoma 30.3 SERPINA3 MYOG DES
10 lymphangioma 30.2 VIM SERPINA3 ACTC1
11 rare tumor 30.2 EWSR1 DES ACTC1
12 lipomatosis, multiple 30.2 SERPINA3 EWSR1 DES
13 cellular congenital mesoblastic nephroma 30.1 VGLL2 NTRK3 ETV6 CCNB3
14 adult fibrosarcoma 30.1 NTRK3 MYOG ETV6
15 fibroma 29.9 VIM SERPINA3 S100A1 DES ACTC1
16 dermatofibrosarcoma protuberans 29.9 VIM SERPINA3 S100A1 DES ACTC1
17 hemangiopericytoma, malignant 29.8 VIM SERPINA3 MYOG DES ACTC1
18 kidney sarcoma 29.7 VGLL2 EWSR1 CCNB3
19 myofibroma 29.6 SERPINA3 S100A1 MYOG ETV6 DES
20 kidney clear cell sarcoma 29.5 VGLL2 NTRK3 EWSR1 CCNB3
21 spindle cell rhabdomyosarcoma 29.4 VGLL2 MYOG DES CCNB3
22 rhabdomyosarcoma 29.4 VIM VGLL2 MYOG EWSR1 DES ALK
23 malignant fibrous histiocytoma 29.3 VIM SERPINA3 MYOG EWSR1 DES ACTC1
24 spindle cell sarcoma 29.2 VIM SERPINA3 NTRK3 MYOG DES CCNB3
25 pseudosarcomatous fibromatosis 29.2 VIM SERPINA3 MYOG DES ALK ACTC1
26 congenital mesoblastic nephroma 28.9 VGLL2 NTRK3 NTRK2 NTRK1 ETV6 CCNB3
27 fibrous histiocytoma 28.8 VIM SERPINA3 MYOG EWSR1 DES ALK
28 sarcoma, synovial 28.8 VIM SERPINA3 MYOG EWSR1 DES CCNB3
29 sarcoma 28.5 VIM SERPINA3 S100A1 ROS1 MYOG EWSR1
30 mesenchymal cell neoplasm 28.1 TPM3 SERPINA3 ROS1 NTRK3 MYOG EWSR1
31 inflammatory myofibroblastic tumor 27.0 VIM TPM3 TFG ROS1 NTRK3 NTRK1
32 fibroblastic rheumatism 10.5 DES ACTC1
33 lymphangiectasis 10.5 VIM ACTC1
34 ovarian fibrothecoma 10.5 DES ACTC1
35 pregnancy adenoma 10.5 NTRK3 ETV6
36 glomangiomyoma 10.5 VIM ACTC1
37 primitive neuroectodermal tumor of the cervix uteri 10.5 VIM DES
38 lymphangiomatosis 10.5 VIM DES
39 adult cystic nephroma 10.5 DES ACTC1
40 papillary tumor of the pineal region 10.5 VIM S100A1
41 pulmonary vein stenosis 10.5 DES ACTC1
42 angiocentric glioma 10.5 VIM ACTC1
43 malignant fibrous histiocytoma of bone 10.4 SERPINA3 DES
44 lipid-rich carcinoma 10.4 NTRK3 ETV6
45 breast adenoid cystic carcinoma 10.4 NTRK3 ETV6
46 ischemic fasciitis 10.4 S100A1 DES ACTC1
47 benign metastasizing leiomyoma 10.4 VIM DES ACTC1
48 breast myoepithelial carcinoma 10.4 VIM ACTC1
49 vulvar sarcoma 10.4 EWSR1 ACTC1
50 perivascular epithelioid cell tumor 10.4 NTRK3 DES ACTC1

Graphical network of the top 20 diseases related to Congenital Fibrosarcoma:



Diseases related to Congenital Fibrosarcoma

Symptoms & Phenotypes for Congenital Fibrosarcoma

GenomeRNAi Phenotypes related to Congenital Fibrosarcoma according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.89 CCNB3
2 Decreased viability GR00221-A-1 9.89 ALK NTRK2 ROS1
3 Decreased viability GR00221-A-2 9.89 CCNB3 NTRK2 NTRK3 ROS1
4 Decreased viability GR00221-A-3 9.89 NTRK1
5 Decreased viability GR00221-A-4 9.89 ALK NTRK2 NTRK3
6 Decreased viability GR00240-S-1 9.89 LMNA TFG
7 Decreased viability GR00249-S 9.89 ALK BTBD1 EWSR1 LMNA NTF3 NTRK1
8 Decreased viability GR00301-A 9.89 NTRK1
9 Decreased viability GR00342-S-1 9.89 ROS1
10 Decreased viability GR00386-A-1 9.89 EWSR1 LMNA MYOG NTF3 S100A1 TFG
11 Decreased viability GR00402-S-2 9.89 CCNB3 VGLL2 VIM

MGI Mouse Phenotypes related to Congenital Fibrosarcoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ALK DES LMNA MYOG NTF3 NTRK1
2 muscle MP:0005369 9.85 ACTC1 DES LMNA MYOG NTF3 NTRK1
3 normal MP:0002873 9.61 ACTC1 ETV6 LMNA MYOG NTF3 NTRK1
4 respiratory system MP:0005388 9.23 ALK LMNA MYOG NTF3 NTRK2 NTRK3

Drugs & Therapeutics for Congenital Fibrosarcoma

Drugs for Congenital Fibrosarcoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Entrectinib Approved, Investigational Phase 1, Phase 2 1108743-60-7 25141092
2
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
3
Mesna Approved, Investigational Phase 2 3375-50-6 598
4
Dactinomycin Approved, Investigational Phase 2 50-76-0 457193 2019
5
Lenograstim Approved, Investigational Phase 2 135968-09-1
6
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
7
Ifosfamide Approved Phase 2 3778-73-2 3690
8
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
9
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
10
Etoposide Approved Phase 2 33419-42-0 36462
11
Tyrosine Approved, Investigational, Nutraceutical Phase 1, Phase 2 60-18-4 6057
12 Molgramostim Investigational Phase 2 99283-10-0
13 Protein Kinase Inhibitors Phase 1, Phase 2
14 Cola Phase 1, Phase 2
15 Etoposide phosphate Phase 2
16 Antibiotics, Antitubercular Phase 2
17 Immunologic Factors Phase 2
18 Adjuvants, Immunologic Phase 2
19 Immunosuppressive Agents Phase 2
20 Alkylating Agents Phase 2
21 Anti-Infective Agents Phase 2
22 Anti-Bacterial Agents Phase 2
23
Isophosphamide mustard Phase 2 0
24 Tubulin Modulators Phase 2
25 Protective Agents Phase 2
26 Antirheumatic Agents Phase 2
27 Antimitotic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1/2, Open-Label, Dose-Escalation And Expansion Study Of Entrectinib (Rxdx-101) In Pediatrics With Locally Advanced Or Metastatic Solid Or Primary CNS Tumors And/Or Who Have No Satisfactory Treatment Options Recruiting NCT02650401 Phase 1, Phase 2 Entrectinib
2 A Phase 1/2 Study of the Oral TRK Inhibitor LOXO-101 in Pediatric Patients With Advanced Solid or Primary Central Nervous System Tumors Recruiting NCT02637687 Phase 1, Phase 2 Larotrectinib (Vitravki, BAY2757556)
3 A Phase 1/2, Open-Label, Safety, Tolerability, Pharmacokinetics, and Anti-Tumor Activity Study of Repotrectinib in Pediatric and Young Adult Subjects With Advanced or Metastatic Malignancies Harboring ALK, ROS1, NTRK1-3 Alterations Recruiting NCT04094610 Phase 1, Phase 2 Oral repotrectinib (TPX-0005)
4 A Phase 1/2 Study of the Oral RET Inhibitor LOXO 292 in Pediatric Patients With Advanced RET-Altered Solid or Primary Central Nervous System Tumors Recruiting NCT03899792 Phase 1, Phase 2 LOXO-292
5 Larotrectinib (LOXO-101, NSC# 788607) for Previously Untreated TRK Fusion Pediatric Solid Tumors and TRK Fusion Relapsed Pediatric Acute Leukemias Recruiting NCT03834961 Phase 2 Larotrectinib Sulfate
6 A Pilot Phase II Study for Children With Infantile Fibrosarcoma Terminated NCT00072280 Phase 2 cyclophosphamide;etoposide;ifosfamide;vincristine sulfate

Search NIH Clinical Center for Congenital Fibrosarcoma

Genetic Tests for Congenital Fibrosarcoma

Anatomical Context for Congenital Fibrosarcoma

MalaCards organs/tissues related to Congenital Fibrosarcoma:

40
Colon, Testes, Tongue, Bone, Heart, Lung, Breast

Publications for Congenital Fibrosarcoma

Articles related to Congenital Fibrosarcoma:

(show top 50) (show all 391)
# Title Authors PMID Year
1
NTRK-rearranged mesenchymal tumours: diagnostic challenges, morphological patterns and proposed testing algorithm. 61
32278476 2020
2
Recurrent RET gene fusions in paediatric spindle mesenchymal neoplasms. 61
31994201 2020
3
A newborn with a large NTRK fusion positive infantile fibrosarcoma successfully treated with larotrectinib. 61
32452122 2020
4
The Evolving Diagnostic and Treatment Landscape of NTRK-Fusion-Driven Pediatric Cancers. 61
31965543 2020
5
Soft Tissue Special Issue: Fibroblastic and Myofibroblastic Neoplasms of the Head and Neck. 61
31950474 2020
6
Novel Aspects of Genetics, Molecular Biology and Clinical Oncology of Sarcomas. 61
32075391 2020
7
Is TLE1 Expression Limited to Synovial Sarcoma? Our Experience at Shifa International Hospital, Pakistan. 61
31893185 2019
8
Identifying patients with NTRK fusion cancer. 61
32223934 2019
9
Identifying patients with NTRK fusion cancer. 61
31738428 2019
10
Ewing-like sarcoma/undifferentiated round cell sarcoma in an infant with APC and MSH6 variation: A case report. 61
31702654 2019
11
Unusual localization and aggressive progression of large infantile fibrosarcoma. 61
31521455 2019
12
Rapid, complete and sustained tumour response to the TRK inhibitor larotrectinib in an infant with recurrent, chemotherapy-refractory infantile fibrosarcoma carrying the characteristic ETV6-NTRK3 gene fusion. 61
32223937 2019
13
Rapid, complete and sustained tumour response to the TRK inhibitor larotrectinib in an infant with recurrent, chemotherapy-refractory infantile fibrosarcoma carrying the characteristic ETV6-NTRK3 gene fusion. 61
31738425 2019
14
NTRK-Fusions - A new kid on the block. 61
31400924 2019
15
Massive Fetal Transfusion During an Emergency Ex Utero Intrapartum Treatment for a Congenital Infantile Fibrosarcoma: A Case Report. 61
31206387 2019
16
Spindle Cell Tumors With RET Gene Fusions Exhibit a Morphologic Spectrum Akin to Tumors With NTRK Gene Fusions. 61
31219820 2019
17
Overview of the clinical and imaging features of the most common non-rhabdomyosarcoma soft-tissue sarcomas. 61
31620852 2019
18
[Clinicopathological analysis of infantile/congenital fibrosarcomas with rare histological features]. 61
31495090 2019
19
Paraneoplastic disorders associated with miscellaneous neoplasms with focus on selected soft tissue and Undifferentiated/ rhabdoid malignancies. 61
30819530 2019
20
Unusual Case of Concurrent Retroperitoneal Congenital Infantile Fibrosarcoma and Cellular Type Congenital Mesoblastic Nephroma. 61
31343481 2019
21
Detection of NTRK Fusions: Merits and Limitations of Current Diagnostic Platforms. 61
31196931 2019
22
New fusion sarcomas: histopathology and clinical significance of selected entities. 61
30633925 2019
23
Expanding the Spectrum of Pediatric NTRK-rearranged Mesenchymal Tumors. 61
30585824 2019
24
Caval replacement strategy in pediatric retroperitoneal tumors encasing the vena cava: a single-center experience and review of literature. 61
29980348 2019
25
Neurotrophic tropomyosin or tyrosine receptor kinase (NTRK) genes. 61
30636697 2019
26
TRK Fusion Cancers in Children: A Clinical Review and Recommendations for Screening. 61
30592640 2019
27
Cervical congenital infantile fibrosarcoma: a case report. 61
30797242 2019
28
Refractory and metastatic infantile fibrosarcoma harboring LMNA-NTRK1 fusion shows complete and durable response to crizotinib. 61
30709876 2019
29
Congenital infantile fibrosarcoma of the glabella: Nuances of achieving surgical cure without cosmetic or functional deformity. 61
30579063 2019
30
Pediatric head and neck fibrosarcomas: A demographical, treatment, and survival analysis and review of a rare case. 61
30554717 2019
31
A large calvarial bone defect in a child: osteointegration of an implant. 61
30684720 2019
32
Fatal Course of Abdominal Neonatal Intestinal Fibrosarcoma. 61
31192106 2019
33
Preliminary Report of a True NasoMaxillary Infantile Fibrosarcoma: Single-Modality Management and 2-Year Follow-Up. 61
31293956 2019
34
Early Surgery Is Feasible for a Very Large Congenital Infantile Fibrosarcoma Associated With Life Threatening Coagulopathy: A Case Report and Literature Review. 61
31956645 2019
35
Novel KHDRBS1-NTRK3 rearrangement in a congenital pediatric CD34-positive skin tumor: a case report. 61
30187166 2019
36
Molecular characterization of cancers with NTRK gene fusions. 61
30171197 2019
37
How I treat NTRK gene fusion-positive cancers. 61
31803506 2019
38
Primary Lung Tumors in Children: Radiologic-Pathologic Correlation From the Radiologic Pathology Archives. 61
30422774 2018
39
The use of neoadjuvant larotrectinib in the management of children with locally advanced TRK fusion sarcomas. 61
30204247 2018
40
Successful treatment of ETV6-NTRK3 fusion gene-negative infantile fibrosarcoma with metastatic lesion resistant to VAC chemotherapy. 61
30536487 2018
41
Successful First Gait of a Child With Hip-Disarticulation Prosthesis. 61
29324457 2018
42
Evaluation of pan-TRK immunohistochemistry in infantile fibrosarcoma, lipofibromatosis-like neural tumour and histological mimics. 61
29863809 2018
43
[Umbilical fibrous hamartoma of infancy: A case report]. 61
30571810 2018
44
Brief Report: Potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma. 61
30220707 2018
45
Translocation Renal Cell Carcinoma in a Child Previously Treated for Infantile Fibrosarcoma. 61
28478739 2018
46
Pan-Trk Immunohistochemistry Identifies NTRK Rearrangements in Pediatric Mesenchymal Tumors. 61
29683818 2018
47
Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants. 61
29915264 2018
48
Spontaneous Regression in a Patient With Infantile Fibrosarcoma. 61
29200168 2018
49
Larotrectinib for paediatric solid tumours harbouring NTRK gene fusions: phase 1 results from a multicentre, open-label, phase 1/2 study. 61
29606586 2018
50
Unusual Presentation of Fibrosarcoma in a Child. 61
29615178 2018

Variations for Congenital Fibrosarcoma

ClinVar genetic disease variations for Congenital Fibrosarcoma:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 33 genes: LMNA LMNA-NTRK1 fusionfusion Pathogenic 617477 1:156100565-156844697

Expression for Congenital Fibrosarcoma

Search GEO for disease gene expression data for Congenital Fibrosarcoma.

Pathways for Congenital Fibrosarcoma

Pathways related to Congenital Fibrosarcoma according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 VIM ROS1 NTRK3 NTRK2 NTRK1 NTF3
2
Show member pathways
12.74 ROS1 NTRK3 NTRK2 NTRK1 ALK
3 12.33 VIM LMNA DES ACTC1
4
Show member pathways
12.28 NTRK3 NTRK2 NTRK1 NTF3 ACTC1
5
Show member pathways
12.27 NTRK3 NTRK2 NTRK1 NTF3
6
Show member pathways
12.03 TPM3 LMNA DES ACTC1
7
Show member pathways
12.03 ROS1 NTRK3 NTRK2 NTRK1 NTF3 ALK
8 11.88 ROS1 NTRK2 NTRK1 ALK
9 11.83 NTRK3 NTRK2 NTRK1 NTF3
10 11.31 VIM TPM3 DES ACTC1
11 11.26 NTRK3 NTRK2 NTRK1
12
Show member pathways
11.04 NTRK3 NTRK2 NTRK1 NTF3
13
Show member pathways
10.54 NTRK2 NTRK1
14 10.13 VIM ROS1 NTRK3 NTRK2 NTRK1 NTF3

GO Terms for Congenital Fibrosarcoma

Cellular components related to Congenital Fibrosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.02 ROS1 NTRK3 NTRK2 NTRK1 ALK

Biological processes related to Congenital Fibrosarcoma according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.05 ROS1 NTRK3 NTRK2 NTRK1 MYOG ETV6
2 nervous system development GO:0007399 10 NTRK3 NTRK2 NTRK1 NTF3 ALK
3 protein phosphorylation GO:0006468 9.97 ROS1 NTRK3 NTRK2 NTRK1 CCNB3 ALK
4 positive regulation of gene expression GO:0010628 9.96 VIM NTRK3 NTRK2 LMNA ACTC1
5 circadian rhythm GO:0007623 9.77 NTRK3 NTRK2 NTRK1
6 peptidyl-tyrosine phosphorylation GO:0018108 9.77 ROS1 NTRK3 NTRK2 NTRK1 ALK
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.74 NTRK3 NTRK2 NTF3
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 NTRK3 NTRK2 NTRK1 NTF3
9 positive regulation of synapse assembly GO:0051965 9.71 NTRK3 NTRK2 NTRK1
10 cellular response to nerve growth factor stimulus GO:1990090 9.65 NTRK3 NTRK2 NTRK1
11 regulation of MAPK cascade GO:0043408 9.63 NTRK3 NTRK2 NTRK1
12 muscle filament sliding GO:0030049 9.62 VIM TPM3 DES ACTC1
13 nerve growth factor signaling pathway GO:0038180 9.58 NTRK1 NTF3
14 positive regulation of phospholipase C activity GO:0010863 9.58 NTRK3 NTF3
15 regulation of protein kinase B signaling GO:0051896 9.58 NTRK3 NTRK2 NTRK1
16 neuronal action potential propagation GO:0019227 9.55 NTRK3 NTRK2
17 positive regulation of kinase activity GO:0033674 9.55 ROS1 NTRK3 NTRK2 NTRK1 ALK
18 positive regulation of neurotrophin TRK receptor signaling pathway GO:0051388 9.52 NTRK3 NTF3
19 mechanoreceptor differentiation GO:0042490 9.43 NTRK3 NTRK2 NTRK1
20 neurotrophin signaling pathway GO:0038179 9.13 NTRK3 NTRK2 NTRK1
21 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.1 ROS1 NTRK3 NTRK2 NTRK1 NTF3 ALK

Molecular functions related to Congenital Fibrosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 VIM VGLL2 TPM3 TFG SERPINA3 S100A1
2 identical protein binding GO:0042802 9.98 VIM TFG S100A1 NTRK1 EWSR1 DES
3 protein kinase activity GO:0004672 9.85 ROS1 NTRK3 NTRK2 NTRK1 CCNB3 ALK
4 protein tyrosine kinase activity GO:0004713 9.65 ROS1 NTRK3 NTRK2 NTRK1 ALK
5 GPI-linked ephrin receptor activity GO:0005004 9.4 NTRK3 NTRK1
6 neurotrophin binding GO:0043121 9.33 NTRK3 NTRK2 NTRK1
7 neurotrophin receptor activity GO:0005030 9.13 NTRK3 NTRK2 NTRK1
8 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.02 ROS1 NTRK3 NTRK2 NTRK1 ALK

Sources for Congenital Fibrosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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