MCID: CNG023
MIFTS: 34

Congenital Fibrosarcoma malady

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Congenital Fibrosarcoma

Aliases & Descriptions for Congenital Fibrosarcoma:

Name: Congenital Fibrosarcoma 12 14
Infantile Fibrosarcoma 12 69

Classifications:



External Ids:

Disease Ontology 12 DOID:8418
NCIt 47 C4244
SNOMED-CT 64 403996004 52040006
UMLS 69 C0334459

Summaries for Congenital Fibrosarcoma

MalaCards based summary : Congenital Fibrosarcoma, also known as infantile fibrosarcoma, is related to intestinal obstruction and fibrosarcoma. 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

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 95)
id Related Disease Score Top Affiliating Genes
1 intestinal obstruction 28.0 ACTC1 DES ETV6 NTF3 NTRK3 UBE2I
2 fibrosarcoma 10.5
3 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 10.2 ETV6 NTRK3
4 intracystic papillary adenoma 10.2 ETV6 NTRK3
5 cellular phase chronic idiopathic myelofibrosis 10.2 ETV6 NTRK3
6 brain stem infarction 10.2 ETV6 NTRK3
7 diffuse glomerulonephritis 10.2 ETV6 NTRK3
8 oral erosive lichen 10.2 ACTC1 DES
9 nasal cavity adenocarcinoma 10.1 ETV6 NTRK3
10 carbon monoxide-induced parkinsonism 10.1 ACTC1 DES
11 vagina leiomyosarcoma 10.1 ACTC1 DES
12 episodic ataxia 10.1 ACTC1 DES
13 pustulosis palmaris et plantaris 10.1 ACTC1 DES
14 inflammatory linear verrucous epidermal nevus 10.1 DES VIM
15 lymphomatous thyroiditis 10.1 DES VIM
16 marfanoid hypermobility syndrome 10.1 DES VIM
17 house allergic alveolitis 10.1 ACTC1 DES
18 adult endodermal sinus tumor 10.1 DES VIM
19 biliary papillomatosis 10.1 DES VIM
20 tanycytic ependymoma 10.1 DES VIM
21 liver angiosarcoma 10.1 DES VIM
22 cavernous sinus meningioma 10.1 DES VIM
23 lymphomatoid papulosis 10.1 ACTC1 VIM
24 male reproductive system disease 10.1 DES VIM
25 chest wall parachordoma 10.1 ACTC1 VIM
26 petrous apex meningioma 10.1 DES VIM
27 tinea favosa 10.1 ACTC1 DES
28 vulvar squamous papilloma 10.1 DES VIM
29 isolated anterior cervical hypertrichosis 10.1 ACTC1 VIM
30 conjunctival cancer 10.1 ACTC1 VIM
31 anal gland neoplasm 10.1 DES VIM
32 testicular granulosa cell tumor 10.1 ACTC1 VIM
33 skin glomus tumor 10.1 DES VIM
34 lymphangiosarcoma 10.1 ACTC1 VIM
35 congenital muscular dystrophy with hyperlaxity 10.1 DES VIM
36 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 10.0 ACTC1 VIM
37 pediatric osteosarcoma 10.0 DES ETV6 NTRK3
38 cauda equina intradural extramedullary astrocytoma 10.0 ACTC1 VIM
39 gangliosidosis gm1 10.0 ACTC1 DES
40 enchondromatosis dwarfism deafness 10.0 DES VIM
41 spindle cell rhabdomyosarcoma 10.0 ACTC1 DES
42 growth retardation hydrocephaly lung hypoplasia 10.0 ACTC1 VIM
43 jewett-marshall bladder cancer 10.0 DES VIM
44 ostertagiasis 10.0 ACTC1 DES
45 desmoid tumor 10.0 ACTC1 VIM
46 sengers syndrome 9.9 DES VIM
47 popliteal pterygium syndrome, bartsocas-papas type 9.9 ACTC1 NTRK3 VIM
48 13q12.3 microdeletion syndrome 9.9 ACTC1 DES VIM
49 osteomyelitis 9.9 ACTC1 DES VIM
50 myoma 9.9 ACTC1 DES VIM

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



Diseases related to Congenital Fibrosarcoma

Symptoms & Phenotypes for Congenital Fibrosarcoma

MGI Mouse Phenotypes related to Congenital Fibrosarcoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 NTF3 NTRK3 VIM ACTC1 DES ETV6
2 mortality/aging MP:0010768 9.17 ETV6 NTF3 NTRK3 UBE2I VIM ACTC1

Drugs & Therapeutics for Congenital Fibrosarcoma

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

(show all 24)
id 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 Phase 2 51-75-2 4033
6
Mesna Approved Phase 2 3375-50-6 598
7
Lenograstim Approved Phase 2 135968-09-1
8
Dactinomycin Approved Phase 2 50-76-0 2019 457193
9 Alkylating Agents Phase 2
10 Adjuvants, Immunologic Phase 2
11 Topoisomerase Inhibitors Phase 2
12 Nucleic Acid Synthesis Inhibitors Phase 2
13 Anti-Bacterial Agents Phase 2
14 Etoposide phosphate Phase 2
15 Anti-Infective Agents Phase 2
16 Immunosuppressive Agents Phase 2
17 Protective Agents Phase 2
18 Isophosphamide mustard Phase 2
19 Antibiotics, Antitubercular Phase 2
20 Antimitotic Agents Phase 2
21 Antirheumatic Agents Phase 2
22 Antineoplastic Agents, Alkylating Phase 2
23 Antineoplastic Agents, Phytogenic Phase 2
24 tyrosine Nutraceutical Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Oral TRK Inhibitor LOXO-101 (Larotrectinib) for Treatment of Advanced Pediatric Solid or Primary Central Nervous System Tumors Recruiting NCT02637687 Phase 1, Phase 2
2 Surgery and/or Chemotherapy in Treating Children With Infantile, Congenital, or Childhood Fibrosarcoma Terminated NCT00072280 Phase 2
3 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

Search NIH Clinical Center for Congenital Fibrosarcoma

Genetic Tests for Congenital Fibrosarcoma

Anatomical Context for Congenital Fibrosarcoma

MalaCards organs/tissues related to Congenital Fibrosarcoma:

39
Tongue, Heart

Publications for Congenital Fibrosarcoma

Articles related to Congenital Fibrosarcoma:

(show top 50) (show all 63)
id Title Authors Year
1
Fetal paravertebral congenital fibrosarcoma: MR imaging findings. ( 26711551 )
2016
2
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
3
Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma. ( 27148571 )
2015
4
Fetal presentation of congenital fibrosarcoma of the meninges: case report and literature review. ( 25492889 )
2015
5
Congenital fibrosarcoma of the bowel: Sonographic description of a rare case of neonatal intestinal obstruction. ( 24281989 )
2013
6
Recurrent congenital fibrosarcoma with heart metastases. ( 22217490 )
2012
7
Congenital fibrosarcoma and history of prenatal exposure to petroleum derivatives. ( 22945410 )
2012
8
Congenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review. ( 21355680 )
2011
9
A giant congenital fibrosarcoma of the leg. ( 20442675 )
2010
10
Congenital fibrosarcoma of the chest wall: report of a case. ( 21430833 )
2010
11
Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features. ( 18657299 )
2008
12
Congenital fibrosarcoma as cause for fetal anemia: prenatal diagnosis and in utero treatment. ( 19018145 )
2008
13
Congenital fibrosarcoma simulating congenital hemangioma. ( 18304187 )
2008
14
Unilateral mosaic cutaneous vascular lesions, enchondroma, multiple soft tissue chondromas and congenital fibrosarcoma--a variant of Maffucci syndrome? ( 18429781 )
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
Differential diagnosis of congenital fibrosarcoma. ( 15262440 )
2004
19
Management of extensive congenital fibrosarcoma with preoperative chemotherapy. ( 15456453 )
2004
20
Chemotherapy alone for the treatment of congenital fibrosarcoma: is surgery always needed? ( 12555264 )
2003
21
Cellular mesoblastic nephroma: morphologic, cytogenetic and molecular links with congenital fibrosarcoma. ( 12650516 )
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
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
26
ETV6-NTRK3 gene fusion in metastasizing congenital fibrosarcoma. ( 10918240 )
2000
27
Molecular detection of the ETV6-NTRK3 gene fusion differentiates congenital fibrosarcoma from other childhood spindle cell tumors. ( 10895816 )
2000
28
ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma. ( 9823307 )
1998
29
A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma. ( 9462753 )
1998
30
Congenital fibrosarcoma of the upper extremity. ( 9734437 )
1998
31
Prenatal sonographic appearance of congenital fibrosarcoma. ( 9608374 )
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
Intrathoracic congenital fibrosarcoma. A case report. ( 7608883 )
1995
36
Congenital fibrosarcoma. Report of three cases. ( 8772821 )
1995
37
Congenital fibrosarcoma masquerading as congenital hemangioma: report of two cases. ( 8523253 )
1995
38
Pediatric case of the day. Congenital fibrosarcoma (CFS). ( 7899610 )
1995
39
Trisomy 11 and other nonrandom trisomies in congenital fibrosarcoma. ( 7987812 )
1994
40
Limb congenital fibrosarcoma: report of two cases and review of the literature. ( 8292522 )
1993
41
Consistent numerical chromosome aberrations in congenital fibrosarcoma. ( 8453601 )
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
Congenital fibrosarcoma. Preoperative chemotherapy and conservative surgery. ( 3755646 )
1986
48
Congenital fibrosarcoma of the forearm. A case report. ( 3957990 )
1986
49
Congenital fibrosarcoma: a congenital fibrous histiocytoma. ( 3035524 )
1986
50
Complete response of congenital fibrosarcoma to chemotherapy. ( 2878294 )
1986

Variations for Congenital Fibrosarcoma

Expression for Congenital Fibrosarcoma

Search GEO for disease gene expression data for Congenital Fibrosarcoma.

Pathways for Congenital Fibrosarcoma

GO Terms for Congenital Fibrosarcoma

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

id 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 intermediate filament organization GO:0045109 9.16 DES VIM
5 positive regulation of actin cytoskeleton reorganization GO:2000251 8.96 NTF3 NTRK3
6 muscle filament sliding GO:0030049 8.8 ACTC1 DES VIM

Sources for Congenital Fibrosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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