MCID: CNG023
MIFTS: 34

Congenital Fibrosarcoma

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Congenital Fibrosarcoma

MalaCards integrated aliases 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 histiocytoma and ceroid lipofuscinosis, neuronal, 9. 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 Cyclophosphamide and Dactinomycin 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 105)
id Related Disease Score Top Affiliating Genes
1 histiocytoma 29.0 ACTC1 DES VIM
2 ceroid lipofuscinosis, neuronal, 9 10.6 ETV6 NTRK3
3 intracystic papillary adenoma 10.5 ETV6 NTRK3
4 maxillary sinus schneiderian papilloma 10.5 ETV6 NTRK3
5 fibrosarcoma 10.5
6 lateral medullary syndrome 10.5 ETV6 NTRK3
7 proliferative glomerulonephritis 10.4 ETV6 NTRK3
8 klatskin's tumor 10.4 ETV6 NTRK3
9 marfanoid habitus-inguinal hernia-advanced bone age syndrome 10.3 ACTC1 DES
10 telo2-related intellectual disability-neurodevelopmental disorder 10.3 ACTC1 DES
11 punctate palmoplantar keratoderma type 2 10.3 ACTC1 DES
12 liver angiosarcoma 10.3 ACTC1 DES
13 neurofibroma of the esophagus 10.3 ACTC1 DES
14 secondary pulmonary hemosiderosis 10.3 ACTC1 DES
15 infantile scoliosis 10.2 DES VIM
16 splenic manifestation of prolymphocytic leukemia 10.2 ACTC1 DES
17 lymphocytic infiltrate of jessner 10.2 DES VIM
18 intellectual disability-polydactyly-uncombable hair syndrome 10.2 DES VIM
19 pineal region yolk sac tumor 10.2 DES VIM
20 mannose-binding lectin protein deficiency 10.2 DES VIM
21 cellular ependymoma 10.2 DES VIM
22 small intestine neuroendocrine neoplasm 10.2 DES VIM
23 space motion sickness 10.2 DES VIM
24 lymphocytic hypophysitis 10.2 ACTC1 VIM
25 childhood pleomorphic rhabdomyosarcoma 10.2 DES VIM
26 vulvar squamous papilloma 10.2 DES VIM
27 gastric signet ring cell adenocarcinoma 10.2 ACTC1 VIM
28 rectal neoplasm 10.2 DES VIM
29 iridogoniodysgenesis and skeletal anomalies 10.2 ACTC1 VIM
30 extraskeletal mesenchymal chondrosarcoma 10.2 DES VIM
31 spondyloepimetaphyseal dysplasia, isidor type 10.2 DES VIM
32 lymphangiosarcoma 10.1 ACTC1 VIM
33 ischemia 10.1 ACTC1 DES
34 fallopian tube germ cell cancer 10.1 ACTC1 VIM
35 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.1 ACTC1 DES
36 myoepithelial carcinoma 10.1 DES VIM
37 papillary glioneuronal tumor 10.1 ACTC1 VIM
38 skin glomus tumor 10.1 DES VIM
39 lung clear cell-sugar-tumor 10.1 DES ETV6 NTRK3
40 gangliosidosis gm2 10.1 ACTC1 DES
41 subependymal glioma 10.1 ACTC1 VIM
42 mucin-rich endometrial endometrioid adenocarcinoma 10.1 DES VIM
43 pulmonary venoocclusive disease 10.1 ACTC1 VIM
44 enamel hypoplasia cataract hydrocephaly 10.1 DES VIM
45 multifocal osteogenic sarcoma 10.1 DES ETV6 NTRK3
46 oesophagostomiasis 10.1 ACTC1 DES
47 group b strep disease in newborns 10.1 ACTC1 VIM
48 chondroblastoma 10.0 DES VIM
49 dense deposit disease 10.0 ACTC1 VIM
50 benign familial neonatal epilepsy 10.0 ACTC1 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 ACTC1 DES ETV6 NTF3 NTRK3 VIM
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 23)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
2
Dactinomycin Approved Phase 2 50-76-0 2019 457193
3
Etoposide Approved Phase 2 33419-42-0 36462
4
Ifosfamide Approved Phase 2 3778-73-2 3690
5
Lenograstim Approved Phase 2 135968-09-1
6
Mechlorethamine Approved Phase 2 51-75-2 4033
7
Mesna Approved Phase 2 3375-50-6 598
8
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
9 Adjuvants, Immunologic Phase 2
10 Alkylating Agents Phase 2
11 Anti-Bacterial Agents Phase 2
12 Antibiotics, Antitubercular Phase 2
13 Anti-Infective Agents Phase 2
14 Antimitotic Agents Phase 2
15 Antineoplastic Agents, Phytogenic Phase 2
16 Antirheumatic Agents Phase 2
17 Etoposide phosphate Phase 2
18 Immunosuppressive Agents Phase 2
19 Isophosphamide mustard Phase 2
20 Nucleic Acid Synthesis Inhibitors Phase 2
21 Protective Agents Phase 2
22 Topoisomerase Inhibitors Phase 2
23 tyrosine Nutraceutical Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
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 LOXO-101 (larotrectinib)
2 Surgery and/or Chemotherapy in Treating Children With Infantile, Congenital, or Childhood Fibrosarcoma Terminated NCT00072280 Phase 2 cyclophosphamide;etoposide;ifosfamide;vincristine sulfate
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 Entrectinib

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
Fetal presentation of congenital fibrosarcoma of the meninges: case report and literature review. ( 25492889 )
2015
3
Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma. ( 27148571 )
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
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 as cause for fetal anemia: prenatal diagnosis and in utero treatment. ( 19018145 )
2008
12
Congenital fibrosarcoma simulating congenital hemangioma. ( 18304187 )
2008
13
Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features. ( 18657299 )
2008
14
Unilateral mosaic cutaneous vascular lesions, enchondroma, multiple soft tissue chondromas and congenital fibrosarcoma--a variant of Maffucci syndrome? ( 18429781 )
2008
15
Congenital fibrosarcoma of the upper extremity--a case report and review of literature. ( 16366098 )
2005
16
Combined prenatal ultrasound and magnetic resonance imaging in an extensive congenital fibrosarcoma: a case report and review of the literature. ( 15980638 )
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
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
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
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
Congenital fibrosarcoma masquerading as congenital hemangioma: report of two cases. ( 8523253 )
1995
34
Are infantile myofibromatosis, congenital fibrosarcoma and congenital haemangiopericytoma histogenetically related? ( 7713484 )
1995
35
Congenital fibrosarcoma. Report of three cases. ( 8772821 )
1995
36
Congenital fibrosarcoma masquerading as lymphatic malformation: report of two cases. ( 7722837 )
1995
37
Pediatric case of the day. Congenital fibrosarcoma (CFS). ( 7899610 )
1995
38
Intrathoracic congenital fibrosarcoma. A case report. ( 7608883 )
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
Congenital fibrosarcoma. Preoperative chemotherapy and conservative surgery. ( 3755646 )
1986
48
Congenital fibrosarcoma of the forearm. A case report. ( 3957990 )
1986
49
Complete response of congenital fibrosarcoma to chemotherapy. ( 2878294 )
1986
50
Congenital fibrosarcoma: a congenital fibrous histiocytoma. ( 3035524 )
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 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

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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