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MCID: CNG023
MIFTS: 37

Congenital Fibrosarcoma

Categories: Rare diseases, Bone diseases, Cancer diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Congenital Fibrosarcoma

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MalaCards integrated aliases for Congenital Fibrosarcoma:

Name: Congenital Fibrosarcoma 12 14
Infantile Fibrosarcoma 12 69

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:8418
NCIt 46 C4244
SNOMED-CT 64 403996004 52040006
UMLS 69 C0334459
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Summaries for Congenital Fibrosarcoma

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MalaCards based summary : Congenital Fibrosarcoma, also known as infantile fibrosarcoma, is related to fibrosarcoma and infantile myofibromatosis. An important gene associated with Congenital Fibrosarcoma is ETV6 (ETS Variant 6), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Cytoskeletal Signaling. The drugs Vincristine and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include tongue and heart, and related phenotypes are cardiovascular system and mortality/aging

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Related Diseases for Congenital Fibrosarcoma

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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 96)
# Related Disease Score Top Affiliating Genes
1 fibrosarcoma 30.2 DES ETV6 NTRK3 VIM
2 infantile myofibromatosis 29.2 ACTC1 DES VIM
3 fibrous histiocytoma 29.1 ACTC1 DES VIM
4 adult mesoblastic nephroma 10.3 ETV6 NTRK3
5 cellular congenital mesoblastic nephroma 10.3 ETV6 NTRK3
6 adult fibrosarcoma 10.3 ETV6 NTRK3
7 congenital mesoblastic nephroma 10.3 ETV6 NTRK3
8 breast secretory carcinoma 10.3 ETV6 NTRK3
9 ovarian fibrothecoma 10.2 ACTC1 DES
10 fibroblastic rheumatism 10.2 ACTC1 DES
11 pulmonary vein stenosis 10.2 ACTC1 DES
12 cystic nephroma 10.2 ACTC1 DES
13 ischemic fasciitis 10.1 ACTC1 DES
14 dedifferentiated liposarcoma 10.1 ACTC1 DES
15 non-langerhans-cell histiocytosis 10.1 ACTC1 DES
16 skin glomus tumor 10.1 DES VIM
17 infantile digital fibromatosis 10.1 DES VIM
18 lymphangiomatosis 10.1 DES VIM
19 primitive neuroectodermal tumor of the cervix uteri 10.1 DES VIM
20 epulis 10.1 DES VIM
21 biphasic synovial sarcoma 10.1 DES VIM
22 syringoma 10.1 DES VIM
23 botryoid rhabdomyosarcoma 10.1 ACTC1 DES
24 juvenile xanthogranuloma 10.1 DES VIM
25 lymphangiectasis 10.1 ACTC1 VIM
26 mesenchymal chondrosarcoma 10.1 DES VIM
27 angiomyolipoma 10.1 ACTC1 DES
28 extraskeletal ewing sarcoma 10.1 DES VIM
29 glomangiomyoma 10.1 ACTC1 VIM
30 familial isolated dilated cardiomyopathy 10.1 ACTC1 DES
31 intravascular papillary endothelial hyperplasia 10.1 ACTC1 VIM
32 granular cell tumor 10.1 DES VIM
33 adenofibroma 10.0 ACTC1 VIM
34 congenital epulis 10.0 DES VIM
35 angiocentric glioma 10.0 ACTC1 VIM
36 embryonal sarcoma 10.0 DES VIM
37 benign mesothelioma 10.0 DES VIM
38 malignant mesenchymoma 10.0 DES ETV6 NTRK3
39 spiradenoma 10.0 ACTC1 VIM
40 restrictive cardiomyopathy 10.0 ACTC1 DES
41 differentiated thyroid carcinoma 10.0 ETV6 NTRK3
42 dendritic cell tumor 10.0 ACTC1 VIM
43 granulosa cell tumor of the ovary 10.0 ACTC1 VIM
44 chordoma 10.0 DES VIM
45 neurilemmoma 10.0 DES VIM
46 myoepithelioma 10.0 ACTC1 VIM
47 alveolar soft part sarcoma 9.9 DES VIM
48 giant cell tumor 9.9 DES VIM
49 sarcoma, synovial 9.9 DES VIM
50 pleomorphic adenoma 9.9 ACTC1 VIM

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



Diseases related to Congenital Fibrosarcoma
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Symptoms & Phenotypes for Congenital Fibrosarcoma

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MGI Mouse Phenotypes related to Congenital Fibrosarcoma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 DES ETV6 NTF3 NTRK3 VIM ACTC1
2 mortality/aging MP:0010768 9.17 DES ETV6 NTF3 NTRK3 UBE2I VIM
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Drugs & Therapeutics for Congenital Fibrosarcoma

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
2
Etoposide Approved Phase 2 33419-42-0 36462
3
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
4
Ifosfamide Approved Phase 2 3778-73-2 3690
5
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
6
Mesna Approved, Investigational Phase 2 3375-50-6 598
7
Lenograstim Approved, Investigational Phase 2 135968-09-1
8
Dactinomycin Approved, Investigational Phase 2 50-76-0 457193 2019
9 Isophosphamide mustard Phase 2 0
10 Alkylating Agents Phase 2
11 Adjuvants, Immunologic Phase 2
12 Topoisomerase Inhibitors Phase 2
13 Nucleic Acid Synthesis Inhibitors Phase 2
14 Anti-Bacterial Agents Phase 2
15 Anti-Infective Agents Phase 2
16 Etoposide phosphate Phase 2
17 Immunosuppressive Agents Phase 2
18 Protective Agents Phase 2
19 Antimitotic Agents Phase 2
20 Antibiotics, Antitubercular Phase 2
21 Antineoplastic Agents, Phytogenic Phase 2
22 Antirheumatic Agents Phase 2
23 tyrosine Nutraceutical Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 1/2 Study of LOXO-195 in Patients With Previously Treated NTRK Fusion Cancers Recruiting NCT03215511 Phase 1, Phase 2 LOXO-195
2 Oral TRK Inhibitor LOXO-101 (Larotrectinib) for Treatment of Advanced Pediatric Solid or Primary Central Nervous System Tumors Recruiting NCT02637687 Phase 1, Phase 2 LOXO-101 (larotrectinib)
3 Surgery and/or Chemotherapy in Treating Children With Infantile, Congenital, or Childhood Fibrosarcoma Terminated NCT00072280 Phase 2 cyclophosphamide;etoposide;ifosfamide;vincristine sulfate
4 Study of RXDX-101 in Children With Recurrent or Refractory Solid Tumors and Primary CNS Tumors, With or Without TRK, ROS1, or ALK Fusions Recruiting NCT02650401 Phase 1 Entrectinib

Search NIH Clinical Center for Congenital Fibrosarcoma

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Genetic Tests for Congenital Fibrosarcoma

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Anatomical Context for Congenital Fibrosarcoma

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MalaCards organs/tissues related to Congenital Fibrosarcoma:

38
Tongue, Heart
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Publications for Congenital Fibrosarcoma

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Articles related to Congenital Fibrosarcoma:

(show top 50) (show all 63)
# Title Authors Year
1
Fetal paravertebral congenital fibrosarcoma: MR imaging findings. ( 26711551 )
2016
2
Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma. ( 27148571 )
2015
3
Fetal presentation of congenital fibrosarcoma of the meninges: case report and literature review. ( 25492889 )
2015
4
Congenital fibrosarcoma in complete remission with Somatostatin, Bromocriptine, Retinoids, Vitamin D3, Vitamin E, Vitamin C, Melatonin, Calcium, Chondroitin sulfate associated with low doses of Cyclophosphamide in a 14-year Follow up. ( 26921571 )
2015
5
Congenital fibrosarcoma of the bowel: Sonographic description of a rare case of neonatal intestinal obstruction. ( 24281989 )
2013
6
Congenital fibrosarcoma and history of prenatal exposure to petroleum derivatives. ( 22945410 )
2012
7
Recurrent congenital fibrosarcoma with heart metastases. ( 22217490 )
2012
8
Congenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review. ( 21355680 )
2011
9
Congenital fibrosarcoma of the chest wall: report of a case. ( 21430833 )
2010
10
A giant congenital fibrosarcoma of the leg. ( 20442675 )
2010
11
Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features. ( 18657299 )
2008
12
Congenital fibrosarcoma simulating congenital hemangioma. ( 18304187 )
2008
13
Unilateral mosaic cutaneous vascular lesions, enchondroma, multiple soft tissue chondromas and congenital fibrosarcoma--a variant of Maffucci syndrome? ( 18429781 )
2008
14
Congenital fibrosarcoma as cause for fetal anemia: prenatal diagnosis and in utero treatment. ( 19018145 )
2008
15
Combined prenatal ultrasound and magnetic resonance imaging in an extensive congenital fibrosarcoma: a case report and review of the literature. ( 15980638 )
2005
16
Congenital fibrosarcoma of the upper extremity--a case report and review of literature. ( 16366098 )
2005
17
Congenital fibrosarcoma with metastasis in a fetus. ( 15022058 )
2004
18
Management of extensive congenital fibrosarcoma with preoperative chemotherapy. ( 15456453 )
2004
19
Differential diagnosis of congenital fibrosarcoma. ( 15262440 )
2004
20
Cellular mesoblastic nephroma: morphologic, cytogenetic and molecular links with congenital fibrosarcoma. ( 12650516 )
2003
21
Chemotherapy alone for the treatment of congenital fibrosarcoma: is surgery always needed? ( 12555264 )
2003
22
Congenital fibrosarcoma of the jejunum in a premature infant with meconium peritonitis. ( 12776248 )
2003
23
Regression of congenital fibrosarcoma to hemangiomatous remnant with histological and genetic findings. ( 12406191 )
2002
24
The detection of Tel-TrkC chimeric transcripts is more specific than TrkC immunoreactivity for the diagnosis of congenital fibrosarcoma. ( 11169520 )
2001
25
ETV6-NTRK3 gene fusion in metastasizing congenital fibrosarcoma. ( 10918240 )
2000
26
Molecular detection of the ETV6-NTRK3 gene fusion differentiates congenital fibrosarcoma from other childhood spindle cell tumors. ( 10895816 )
2000
27
Signal transduction and transforming properties of the TEL-TRKC fusions associated with t(12;15)(p13;q25) in congenital fibrosarcoma and acute myelogenous leukemia. ( 10775267 )
2000
28
A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma. ( 9462753 )
1998
29
Prenatal sonographic appearance of congenital fibrosarcoma. ( 9608374 )
1998
30
ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma. ( 9823307 )
1998
31
Congenital fibrosarcoma of the upper extremity. ( 9734437 )
1998
32
Congenital palmar nodule in an infant. Congenital fibrosarcoma. ( 9192424 )
1997
33
Are infantile myofibromatosis, congenital fibrosarcoma and congenital haemangiopericytoma histogenetically related? ( 7713484 )
1995
34
Congenital fibrosarcoma masquerading as lymphatic malformation: report of two cases. ( 7722837 )
1995
35
Congenital fibrosarcoma. Report of three cases. ( 8772821 )
1995
36
Pediatric case of the day. Congenital fibrosarcoma (CFS). ( 7899610 )
1995
37
Intrathoracic congenital fibrosarcoma. A case report. ( 7608883 )
1995
38
Congenital fibrosarcoma masquerading as congenital hemangioma: report of two cases. ( 8523253 )
1995
39
Trisomy 11 and other nonrandom trisomies in congenital fibrosarcoma. ( 7987812 )
1994
40
Consistent numerical chromosome aberrations in congenital fibrosarcoma. ( 8453601 )
1993
41
Limb congenital fibrosarcoma: report of two cases and review of the literature. ( 8292522 )
1993
42
Ultrastructural, immunocytochemical, and cytogenetic characterization of a large congenital fibrosarcoma. ( 1524466 )
1992
43
Cytogenetic analysis of a congenital fibrosarcoma. ( 2009510 )
1991
44
Deletion of part of the short arm of chromosome 17 in a congenital fibrosarcoma. ( 2204476 )
1990
45
Cytogenetic investigation of a case of congenital fibrosarcoma. ( 2731143 )
1989
46
Congenital fibrosarcoma. ( 3612464 )
1987
47
Complete response of congenital fibrosarcoma to chemotherapy. ( 2878294 )
1986
48
Congenital fibrosarcoma: a congenital fibrous histiocytoma. ( 3035524 )
1986
49
Congenital fibrosarcoma. Preoperative chemotherapy and conservative surgery. ( 3755646 )
1986
50
Congenital fibrosarcoma of the forearm. A case report. ( 3957990 )
1986
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Variations for Congenital Fibrosarcoma

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Expression for Congenital Fibrosarcoma

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Search GEO for disease gene expression data for Congenital Fibrosarcoma.
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Pathways for Congenital Fibrosarcoma

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

# Super pathways Score Top Affiliating Genes
1
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 21
Show member pathways
 12.1 ACTC1 NTF3 NTRK3
2
Cytoskeletal Signaling 4
11.82 ACTC1 DES VIM
3
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 61
11.3 NTF3 VIM
4
Neurotrophic factor-mediated Trk receptor signaling 1
Show member pathways
 11.11 NTF3 NTRK3
5
Aurora B signaling 1
Show member pathways
 10.91 DES VIM
6
Striated Muscle Contraction 1 62
10.66 ACTC1 DES VIM
7
G-protein signaling_Rap2B regulation pathway 21
10.16 DES NTF3 NTRK3 VIM
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GO Terms for Congenital Fibrosarcoma

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.5 ACTC1 NTRK3 VIM
2 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.37 NTF3 NTRK3
3 activation of protein kinase B activity GO:0032148 9.26 NTF3 NTRK3
4 positive regulation of actin cytoskeleton reorganization GO:2000251 9.16 NTF3 NTRK3
5 intermediate filament organization GO:0045109 8.96 DES VIM
6 muscle filament sliding GO:0030049 8.8 ACTC1 DES VIM
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Sources for Congenital Fibrosarcoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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