MCID: CNG023
MIFTS: 43

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 73

Classifications:



External Ids:

Disease Ontology 12 DOID:8418
NCIt 50 C4244
SNOMED-CT 68 52040006
UMLS 73 C0334459

Summaries for Congenital Fibrosarcoma

MalaCards based summary : Congenital Fibrosarcoma, also known as infantile fibrosarcoma, is related to fibrosarcoma and congenital mesoblastic nephroma. 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 Dactinomycin and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and ovary, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 102)
# Related Disease Score Top Affiliating Genes
1 fibrosarcoma 31.0 DES ETV6 NTRK3 VIM
2 congenital mesoblastic nephroma 30.5 ETV6 NTRK3
3 myofibroma 30.1 DES ETV6
4 cellular congenital mesoblastic nephroma 30.1 ETV6 NTRK3
5 malignant fibroxanthoma 29.8 ACTC1 DES VIM
6 rhabdomyosarcoma 29.8 ACTC1 DES VIM
7 fibrous histiocytoma 29.7 ACTC1 DES VIM
8 fibromatosis 29.7 ACTC1 DES VIM
9 infantile myofibromatosis 29.7 ACTC1 DES VIM
10 fasciitis 29.7 ACTC1 DES ETV6 VIM
11 adult mesoblastic nephroma 10.2 ETV6 NTRK3
12 adult fibrosarcoma 10.2 ETV6 NTRK3
13 ovarian fibrothecoma 10.2 ACTC1 DES
14 fibroblastic rheumatism 10.2 ACTC1 DES
15 botryoid rhabdomyosarcoma 10.2 ACTC1 DES
16 glomangioma 10.2 ACTC1 DES
17 lymphangiectasis 10.2 ACTC1 VIM
18 glomangiomyoma 10.1 ACTC1 VIM
19 lymphangioma 10.1 ACTC1 VIM
20 non-langerhans-cell histiocytosis 10.1 ACTC1 DES
21 intravascular papillary endothelial hyperplasia 10.1 ACTC1 VIM
22 pulmonary vein stenosis 10.1 ACTC1 DES
23 breast secretory carcinoma 10.1 ETV6 NTRK3
24 infantile digital fibromatosis 10.1 DES VIM
25 lymphangiomatosis 10.1 DES VIM
26 adenofibroma 10.1 ACTC1 VIM
27 primitive neuroectodermal tumor of the cervix uteri 10.1 DES VIM
28 spiradenoma 10.1 ACTC1 VIM
29 epulis 10.1 DES VIM
30 syringocystadenoma papilliferum 10.1 DES VIM
31 ischemic fasciitis 10.1 ACTC1 DES
32 angiocentric glioma 10.1 ACTC1 VIM
33 biphasic synovial sarcoma 10.1 DES VIM
34 syringoma 10.1 DES VIM
35 dedifferentiated liposarcoma 10.1 ACTC1 DES
36 cystic nephroma 10.1 DES VIM
37 juvenile xanthogranuloma 10.1 DES VIM
38 pleomorphic liposarcoma 10.1 DES VIM
39 desmoplastic small round cell tumor 10.1 DES VIM
40 mesenchymal chondrosarcoma 10.1 DES VIM
41 extraskeletal ewing sarcoma 10.1 DES VIM
42 dendritic cell tumor 10.1 ACTC1 VIM
43 granular cell tumor 10.1 DES VIM
44 malignant mesenchymoma 10.1 DES ETV6 NTRK3
45 angiomyolipoma 10.1 ACTC1 DES
46 embryonal sarcoma 10.1 DES VIM
47 granulosa cell tumor of the ovary 10.0 ACTC1 VIM
48 sacrococcygeal teratoma 10.0
49 sarcoma 10.0
50 teratoma 10.0

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 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.43 ETV6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.43 VIM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-108 10.43 TPM3 NTF3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.43 TPM3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.43 NTF3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.43 NTF3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.43 TPM3 NTRK3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.43 TPM3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.43 ETV6 NTRK3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.43 VIM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.43 ETV6 NTF3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.43 NTRK3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.43 ETV6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.43 NTRK1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.43 ETV6 TPM3 VIM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.43 VIM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-182 10.43 TPM3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.43 VIM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.43 VIM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.43 ETV6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.43 ETV6 NTF3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.43 TPM3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.43 VIM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.43 VIM NTRK3
25 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.43 NTRK3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.43 NTRK3
27 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.43 NTRK1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.43 ETV6 NTRK1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.43 TPM3
30 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.43 TPM3
31 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.43 VIM NTF3 NTRK1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.43 ETV6
33 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.43 TPM3
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.43 VIM NTF3 NTRK1 NTRK3
35 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.43 TPM3
36 Reduced mammosphere formation GR00396-S 9.02 DES ETV6 NTF3 UBE2I VIM

MGI Mouse Phenotypes related to Congenital Fibrosarcoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.81 ACTC1 DES ETV6 NTF3 NTRK1 NTRK3
2 cardiovascular system MP:0005385 9.73 ACTC1 DES ETV6 NTF3 NTRK3 VIM
3 muscle MP:0005369 9.43 ACTC1 DES NTF3 NTRK1 TPM3 VIM
4 no phenotypic analysis MP:0003012 9.02 ETV6 NTRK1 NTRK3 TPM3 UBE2I

Drugs & Therapeutics for Congenital Fibrosarcoma

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dactinomycin Approved, Investigational Phase 2 50-76-0 457193 2019
2
Lenograstim Approved, Investigational Phase 2 135968-09-1
3
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
4
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
5
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
6
Ifosfamide Approved Phase 2 3778-73-2 3690
7
Mesna Approved, Investigational Phase 2 3375-50-6 598
8
Etoposide Approved Phase 2 33419-42-0 36462
9 Immunosuppressive Agents Phase 2
10
Isophosphamide mustard Phase 2 0
11 Adjuvants, Immunologic Phase 2
12 Topoisomerase Inhibitors Phase 2
13 Antineoplastic Agents, Alkylating Phase 2
14 Protective Agents Phase 2
15 Antineoplastic Agents, Phytogenic Phase 2
16 Alkylating Agents Phase 2
17 Immunologic Factors Phase 2
18 Antimitotic Agents Phase 2
19 Etoposide phosphate Phase 2
20 Antibiotics, Antitubercular Phase 2
21 Anti-Bacterial Agents Phase 2
22 Antirheumatic Agents Phase 2
23 Nucleic Acid Synthesis Inhibitors Phase 2
24 Anti-Infective Agents Phase 2
25 tyrosine 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

Genetic Tests for Congenital Fibrosarcoma

Anatomical Context for Congenital Fibrosarcoma

MalaCards organs/tissues related to Congenital Fibrosarcoma:

41
Bone, Breast, Ovary, Endothelial, Cervix, Thyroid, Smooth Muscle

Publications for Congenital Fibrosarcoma

Articles related to Congenital Fibrosarcoma:

(show top 50) (show all 124)
# Title Authors Year
1
Translocation Renal Cell Carcinoma in a Child Previously Treated for Infantile Fibrosarcoma. ( 28478739 )
2018
2
Successful treatment of ETV6-NTRK3 fusion gene-negative infantile fibrosarcoma with metastatic lesion resistant to VAC chemotherapy. ( 30536487 )
2018
3
Infantile fibrosarcoma treated with postoperative vincristine and dactinomycin. ( 28317309 )
2017
4
Two cases of humoral hypercalcemia of malignancy complicating infantile fibrosarcoma. ( 28371408 )
2017
5
Congenital Infantile Fibrosarcoma Associated With a Lipofibromatosis-Like Component: One Train May Be Hiding Another. ( 28525423 )
2017
6
Fetal paravertebral congenital fibrosarcoma: MR imaging findings. ( 26711551 )
2016
7
Fetal presentation of congenital fibrosarcoma of the meninges: case report and literature review. ( 25492889 )
2015
8
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
9
Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma. ( 27148571 )
2015
10
Infantile fibrosarcoma of ethmoid sinus, misdiagnosed as an adenoid in a 5-year-old child. ( 26604519 )
2015
11
Congenital-infantile fibrosarcoma presenting as a hemangioma: a case report. ( 25422982 )
2015
12
Congenital (infantile) fibrosarcoma of the scalp: a case series and review of literature. ( 26206116 )
2015
13
Congenital infantile fibrosarcoma. ( 24675019 )
2014
14
Congenital infantile fibrosarcoma: review of imaging features. ( 24706181 )
2014
15
Congenital-infantile fibrosarcoma of the foot--avoidance of amputation. ( 24908860 )
2014
16
Transumbilical laparoscopic treatment of Congenital Infantile Fibrosarcoma of the Ileum. ( 25573709 )
2014
17
Congenital fibrosarcoma of the bowel: Sonographic description of a rare case of neonatal intestinal obstruction. ( 24281989 )
2013
18
Successful treatment of infantile fibrosarcoma spinal metastasis by chemotherapy and stereotactic hypofractionated radiotherapy. ( 24527200 )
2013
19
Infantile fibrosarcoma in a child: a case report. ( 24575285 )
2013
20
Recurrent congenital fibrosarcoma with heart metastases. ( 22217490 )
2012
21
Congenital fibrosarcoma and history of prenatal exposure to petroleum derivatives. ( 22945410 )
2012
22
Congenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review. ( 21355680 )
2011
23
Primary congenital infantile fibrosarcoma of the heart: the first confirmed case. ( 21440163 )
2011
24
Infantile fibrosarcoma: retrospective analysis of eleven patients. ( 21617710 )
2011
25
Congenital fibrosarcoma of the chest wall: report of a case. ( 21430833 )
2010
26
A giant congenital fibrosarcoma of the leg. ( 20442675 )
2010
27
Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features. ( 18657299 )
2008
28
Unilateral mosaic cutaneous vascular lesions, enchondroma, multiple soft tissue chondromas and congenital fibrosarcoma--a variant of Maffucci syndrome? ( 18429781 )
2008
29
Congenital fibrosarcoma as cause for fetal anemia: prenatal diagnosis and in utero treatment. ( 19018145 )
2008
30
Congenital fibrosarcoma simulating congenital hemangioma. ( 18304187 )
2008
31
Primary colonic congenital infantile fibrosarcoma presenting as meconium peritonitis. ( 18247031 )
2008
32
Congenital fibrosarcoma of the upper extremity--a case report and review of literature. ( 16366098 )
2005
33
Combined prenatal ultrasound and magnetic resonance imaging in an extensive congenital fibrosarcoma: a case report and review of the literature. ( 15980638 )
2005
34
Congenital fibrosarcoma with metastasis in a fetus. ( 15022058 )
2004
35
Differential diagnosis of congenital fibrosarcoma. ( 15262440 )
2004
36
Management of extensive congenital fibrosarcoma with preoperative chemotherapy. ( 15456453 )
2004
37
Cellular mesoblastic nephroma: morphologic, cytogenetic and molecular links with congenital fibrosarcoma. ( 12650516 )
2003
38
Congenital fibrosarcoma of the jejunum in a premature infant with meconium peritonitis. ( 12776248 )
2003
39
Chemotherapy alone for the treatment of congenital fibrosarcoma: is surgery always needed? ( 12555264 )
2003
40
Advances in the adjuvant treatment of infantile fibrosarcoma. ( 12722878 )
2003
41
Retroperitoneal infantile fibrosarcoma: clinical, molecular, and therapeutic aspects of an unusual tumor. ( 14578034 )
2003
42
Regression of congenital fibrosarcoma to hemangiomatous remnant with histological and genetic findings. ( 12406191 )
2002
43
Treatment of infantile fibrosarcoma with chemotherapy and surgery: results from the Dana-Farber Cancer Institute and Children's Hospital, Boston. ( 12468912 )
2002
44
What is your diagnosis? Infantile fibrosarcoma. ( 12481771 )
2002
45
The detection of Tel-TrkC chimeric transcripts is more specific than TrkC immunoreactivity for the diagnosis of congenital fibrosarcoma. ( 11169520 )
2001
46
Reduced sensitivity of paraffin-based RT-PCR assays for ETV6-NTRK3 fusion transcripts in morphologically defined infantile fibrosarcoma. ( 11684968 )
2001
47
Congenital infantile fibrosarcoma of the thigh in a newborn. ( 11989601 )
2001
48
Congenital-infantile fibrosarcoma. A clinicopathologic study of 10 cases and molecular detection of the ETV6-NTRK3 fusion transcripts using paraffin-embedded tissues. ( 11242790 )
2001
49
[Congenital fibrosarcoma. Diagnostic-therapeutic implications]. ( 12601952 )
2000
50
ETV6-NTRK3 gene fusion in metastasizing congenital fibrosarcoma. ( 10918240 )
2000

Variations for Congenital Fibrosarcoma

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 ACTC1 NTF3 NTRK1 NTRK3
2 12.17 ACTC1 DES VIM
3
Show member pathways
12.05 NTF3 NTRK1 NTRK3
4
Show member pathways
11.91 NTF3 NTRK1 NTRK3
5
Show member pathways
11.82 ACTC1 DES TPM3
6 11.7 NTF3 NTRK1 NTRK3
7 11.36 NTF3 NTRK1 NTRK3
8
Show member pathways
11.22 NTF3 NTRK1 NTRK3
9 11.13 NTRK1 NTRK3
10
Show member pathways
11.11 DES VIM
11 10.79 NTF3 NTRK1 NTRK3
12 10.78 ACTC1 DES TPM3 VIM
13 10.46 DES NTF3 NTRK1 NTRK3 VIM

GO Terms for Congenital Fibrosarcoma

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular response to nerve growth factor stimulus GO:1990090 9.49 NTRK1 NTRK3
2 activation of protein kinase B activity GO:0032148 9.48 NTF3 NTRK3
3 response to axon injury GO:0048678 9.46 NTRK1 NTRK3
4 intermediate filament organization GO:0045109 9.43 DES VIM
5 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.43 NTF3 NTRK1 NTRK3
6 positive regulation of actin cytoskeleton reorganization GO:2000251 9.4 NTF3 NTRK3
7 positive regulation of phospholipase C activity GO:0010863 9.37 NTF3 NTRK3
8 nerve growth factor signaling pathway GO:0038180 9.32 NTF3 NTRK1
9 mechanoreceptor differentiation GO:0042490 9.16 NTRK1 NTRK3
10 neurotrophin signaling pathway GO:0038179 8.96 NTRK1 NTRK3
11 muscle filament sliding GO:0030049 8.92 ACTC1 DES TPM3 VIM

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 NTRK1 NTRK3
2 GPI-linked ephrin receptor activity GO:0005004 9.16 NTRK1 NTRK3
3 neurotrophin binding GO:0043121 8.96 NTRK1 NTRK3
4 neurotrophin receptor activity GO:0005030 8.62 NTRK1 NTRK3

Sources for Congenital Fibrosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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