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 6 74

Classifications:



External Ids:

Disease Ontology 12 DOID:8418
NCIt 51 C4244
SNOMED-CT 69 52040006
UMLS 74 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 Cytoskeletal Signaling and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drugs Mechlorethamine and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and colon, 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 116)
# Related Disease Score Top Affiliating Genes
1 fibrosarcoma 30.9 DES ETV6 NTRK3 VIM
2 congenital mesoblastic nephroma 30.6 ETV6 NTRK3
3 myofibroma 30.3 DES ETV6
4 cellular congenital mesoblastic nephroma 30.3 ETV6 NTRK3
5 fasciitis 30.0 ACTC1 DES ETV6
6 malignant fibroxanthoma 29.9 ACTC1 DES VIM
7 fibromatosis 29.7 ACTC1 DES VIM
8 infantile myofibromatosis 29.7 ACTC1 DES VIM
9 rhabdomyosarcoma 29.4 ACTC1 DES EWSR1 VIM
10 fibrous histiocytoma 29.3 ACTC1 DES EWSR1 VIM
11 adult mesoblastic nephroma 10.3 ETV6 NTRK3
12 adult fibrosarcoma 10.3 ETV6 NTRK3
13 ovarian fibrothecoma 10.3 ACTC1 DES
14 fibroblastic rheumatism 10.2 ACTC1 DES
15 breast secretory carcinoma 10.2 ETV6 NTRK3
16 cutaneous leiomyosarcoma 10.2 ACTC1 DES
17 botryoid rhabdomyosarcoma 10.2 ACTC1 DES
18 glomangioma 10.2 ACTC1 DES
19 lymphangiectasis 10.2 ACTC1 VIM
20 non-langerhans-cell histiocytosis 10.2 ACTC1 DES
21 glomangiomyoma 10.2 ACTC1 VIM
22 pulmonary vein stenosis 10.2 ACTC1 DES
23 lymphangioma 10.2 ACTC1 VIM
24 intravascular papillary endothelial hyperplasia 10.2 ACTC1 VIM
25 infantile digital fibromatosis 10.2 DES VIM
26 ischemic fasciitis 10.2 ACTC1 DES
27 adenofibroma 10.2 ACTC1 VIM
28 lymphangiomatosis 10.2 DES VIM
29 primitive neuroectodermal tumor of the cervix uteri 10.2 DES VIM
30 epulis 10.2 DES VIM
31 angiocentric glioma 10.2 ACTC1 VIM
32 dedifferentiated liposarcoma 10.2 ACTC1 DES
33 syringoma 10.2 DES VIM
34 cystic nephroma 10.2 DES VIM
35 juvenile xanthogranuloma 10.2 DES VIM
36 pleomorphic liposarcoma 10.2 DES VIM
37 mesenchymal chondrosarcoma 10.2 DES VIM
38 dendritic cell tumor 10.1 ACTC1 VIM
39 granular cell tumor 10.1 DES VIM
40 angiomyolipoma 10.1 ACTC1 DES
41 embryonal sarcoma 10.1 DES VIM
42 granulosa cell tumor of the ovary 10.1 ACTC1 VIM
43 congenital epulis 10.1 DES VIM
44 askin's tumor 10.1 EWSR1 NTRK1
45 familial isolated dilated cardiomyopathy 10.1 ACTC1 DES
46 cerebral cavernous malformations 2 10.1 NTRK1 NTRK3
47 polymorphous low-grade adenocarcinoma 10.0 ACTC1 NTRK3 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:

27 (show all 40)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.26 ETV6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.26 VIM EWSR1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-108 10.26 TPM3 NTF3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.26 TPM3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.26 NTF3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.26 NTF3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.26 EWSR1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.26 TPM3 NTRK3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.26 TPM3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.26 ETV6 EWSR1 NTRK3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.26 EWSR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.26 VIM EWSR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.26 ETV6 NTF3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.26 EWSR1 NTRK3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.26 ETV6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.26 NTRK1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.26 EWSR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.26 ETV6 TPM3 VIM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.26 VIM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-182 10.26 TPM3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.26 VIM
22 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.26 EWSR1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.26 VIM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.26 ETV6
25 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.26 ETV6 NTF3
26 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.26 TPM3
27 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.26 VIM
28 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.26 VIM NTRK3
29 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.26 NTRK3
30 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.26 EWSR1 NTRK3
31 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.26 NTRK1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.26 ETV6 EWSR1 NTRK1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.26 TPM3
34 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.26 TPM3
35 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.26 VIM NTF3 NTRK1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.26 ETV6
37 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.26 TPM3
38 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.26 EWSR1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.26 VIM NTRK3 NTF3 NTRK1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.26 TPM3 EWSR1

MGI Mouse Phenotypes related to Congenital Fibrosarcoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 ACTC1 DES ETV6 NTF3 NTRK3 VIM
2 mortality/aging MP:0010768 9.56 ACTC1 DES ETV6 NTF3 NTRK1 NTRK3
3 muscle MP:0005369 9.1 ACTC1 DES NTF3 NTRK1 TPM3 VIM

Drugs & Therapeutics for Congenital Fibrosarcoma

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
2
Etoposide Approved Phase 2 33419-42-0 36462
3
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
4
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
5
Ifosfamide Approved Phase 2 3778-73-2 3690
6
Mesna Approved, Investigational Phase 2 3375-50-6 598
7
Dactinomycin Approved, Investigational Phase 2 50-76-0 457193 2019
8
Lenograstim Approved, Investigational Phase 2 135968-09-1
9
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
10
Tyrosine Approved, Investigational, Nutraceutical Phase 1, Phase 2 60-18-4 6057
11 Cola Phase 1, Phase 2
12 9-Fluoro-15-methyl-2,11,16,20,21,24-hexaazapentacyclo(16.5.2.02,6.07,12.021,2... Phase 1, Phase 2
13 Nucleic Acid Synthesis Inhibitors Phase 2
14 Anti-Infective Agents Phase 2
15 Antimitotic Agents Phase 2
16
Isophosphamide mustard Phase 2 0
17 Protective Agents Phase 2
18 Immunologic Factors Phase 2
19 Alkylating Agents Phase 2
20 Antineoplastic Agents, Alkylating Phase 2
21 Topoisomerase Inhibitors Phase 2
22 Antineoplastic Agents, Phytogenic Phase 2
23 Immunosuppressive Agents Phase 2
24 Etoposide phosphate Phase 2
25 Adjuvants, Immunologic Phase 2
26 Antirheumatic Agents Phase 2
27 Anti-Bacterial Agents Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Entrectinib Investigational Phase 1 1108743-60-7
30 Protein Kinase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Oral LOXO-292 in Pediatric Patients With Advanced Solid or Primary Central Nervous System Tumors Recruiting NCT03899792 Phase 1, Phase 2 LOXO-292
2 Phase 1/2 Study of LOXO-195 in Patients With Previously Treated NTRK Fusion Cancers Recruiting NCT03215511 Phase 1, Phase 2 LOXO-195
3 A Study to Test the Safety and Efficacy of the Drug Larotrectinib for the Treatment of Tumors With NTRK-fusion in Children Recruiting NCT02637687 Phase 1, Phase 2 Larotrectinib (Vitravki, BAY2757556)
4 Larotrectinib in Treating Patients With Previously Untreated TRK Fusion Solid Tumors and TRK Fusion Relapsed Acute Leukemia Not yet recruiting NCT03834961 Phase 2 Larotrectinib
5 Surgery and/or Chemotherapy in Treating Children With Infantile, Congenital, or Childhood Fibrosarcoma Terminated NCT00072280 Phase 2 cyclophosphamide;etoposide;ifosfamide;vincristine sulfate
6 Study Of Entrectinib (Rxdx-101) in Children and Adolescents With No Curative First-Line Treatment Option, 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:

42
Bone, Testes, Colon, Tongue, Heart, T Cells, Smooth Muscle

Publications for Congenital Fibrosarcoma

Articles related to Congenital Fibrosarcoma:

(show top 50) (show all 210)
# Title Authors Year
1
Refractory and metastatic infantile fibrosarcoma harboring LMNA-NTRK1 fusion shows complete and durable response to crizotinib. ( 30709876 )
2019
2
Cervical congenital infantile fibrosarcoma: a case report. ( 30797242 )
2019
3
Recurrent EML4-NTRK3 fusions in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy. ( 29099503 )
2018
4
Successful treatment of ETV6-NTRK3 fusion gene-negative infantile fibrosarcoma with metastatic lesion resistant to VAC chemotherapy. ( 30536487 )
2018
5
Congenital infantile fibrosarcoma of the glabella: Nuances of achieving surgical cure without cosmetic or functional deformity. ( 30579063 )
2018
6
A case of congenital infantile fibrosarcoma in a newborn. ( 30737951 )
2018
7
Translocation Renal Cell Carcinoma in a Child Previously Treated for Infantile Fibrosarcoma. ( 28478739 )
2018
8
Recurrent BRAF Gene Fusions in a Subset of Pediatric Spindle Cell Sarcomas: Expanding the Genetic Spectrum of Tumors With Overlapping Features With Infantile Fibrosarcoma. ( 28877062 )
2018
9
Analysis of infantile fibrosarcoma reveals extensive T-cell responses within tumors: Implications for immunotherapy. ( 28921877 )
2018
10
Spontaneous Regression in a Patient With Infantile Fibrosarcoma. ( 29200168 )
2018
11
Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma. ( 29430000 )
2018
12
Successful management of congenital/infantile fibrosarcoma presenting as large, non-healing buttock ulceration. ( 29630153 )
2018
13
Evaluation of pan-TRK immunohistochemistry in infantile fibrosarcoma, lipofibromatosis-like neural tumour and histological mimics. ( 29863809 )
2018
14
Congenital infantile fibrosarcoma mimicking a cutaneous vascular lesion: a case report and review of the literature. ( 27910123 )
2017
15
Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma. ( 28256570 )
2017
16
Infantile fibrosarcoma treated with postoperative vincristine and dactinomycin. ( 28317309 )
2017
17
Two cases of humoral hypercalcemia of malignancy complicating infantile fibrosarcoma. ( 28371408 )
2017
18
Congenital Infantile Fibrosarcoma Associated With a Lipofibromatosis-Like Component: One Train May Be Hiding Another. ( 28525423 )
2017
19
Congenital Infantile Fibrosarcoma Causing Intestinal Perforation in a Newborn. ( 28690909 )
2017
20
A Case of Congenital Infantile Fibrosarcoma of the Bowel Presenting as a Neonatal Intussusception. ( 29090505 )
2017
21
Congenital Infantile Fibrosarcoma in the Premature Infant. ( 29099410 )
2017
22
Fetal paravertebral congenital fibrosarcoma: MR imaging findings. ( 26711551 )
2016
23
Unusual case of infantile fibrosarcoma evaluated on F-18 fluorodeoxyglucose positron emission tomography-computed tomography. ( 27385891 )
2016
24
Infantile Fibrosarcoma of Tongue: A Rare Tumor. ( 27398324 )
2016
25
A Case Report of an Invasive Infantile Fibrosarcoma of the Forearm. ( 27602180 )
2016
26
Preoperative Treatment With Pazopanib in a Case of Chemotherapy-Resistant Infantile Fibrosarcoma. ( 26375879 )
2016
27
Congenital-infantile fibrosarcoma of the ileocecal region: the first case presentation. ( 26527581 )
2016
28
Evaluation of a Congenital Infantile Fibrosarcoma by Comprehensive Genomic Profiling Reveals an LMNA-NTRK1 Gene Fusion Responsive to Crizotinib. ( 26563356 )
2016
29
Conservative strategy in infantile fibrosarcoma is possible: The European paediatric Soft tissue sarcoma Study Group experience. ( 26849118 )
2016
30
Infantile Fibrosarcoma With NTRK3-ETV6 Fusion Successfully Treated With the Tropomyosin-Related Kinase Inhibitor LOXO-101. ( 27093299 )
2016
31
Hypercalcemia of Malignancy in a Newborn with Infantile Fibrosarcoma. ( 27128515 )
2016
32
Fetal presentation of congenital fibrosarcoma of the meninges: case report and literature review. ( 25492889 )
2015
33
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
34
Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma. ( 27148571 )
2015
35
Congenital-infantile fibrosarcoma presenting as a hemangioma: a case report. ( 25422982 )
2015
36
Intestinal congenital/infantile fibrosarcoma: a new clinico-pathological entity? ( 25652760 )
2015
37
Sonographic features of congenital infantile fibrosarcoma that appeared as a sacrococcygeal teratoma during pregnancy. ( 26013636 )
2015
38
Congenital (infantile) fibrosarcoma of the scalp: a case series and review of literature. ( 26206116 )
2015
39
Infantile fibrosarcoma of ethmoid sinus, misdiagnosed as an adenoid in a 5-year-old child. ( 26604519 )
2015
40
Congenital fibrosarcoma of the bowel: sonographic description of a rare case of neonatal intestinal obstruction. ( 24281989 )
2014
41
Transumbilical laparoscopic treatment of Congenital Infantile Fibrosarcoma of the Ileum. ( 25573709 )
2014
42
Congenital infantile fibrosarcoma of scalp. Is adjuvant therapy essential ? ( 25767343 )
2014
43
Congenital infantile fibrosarcoma of the lip. ( 24138391 )
2014
44
Distant metastatic spread of molecularly proven infantile fibrosarcoma of the chest in a 2-month-old girl: case report and review of literature. ( 24276045 )
2014
45
Congenital infantile fibrosarcoma. ( 24675019 )
2014
46
Congenital infantile fibrosarcoma: review of imaging features. ( 24706181 )
2014
47
Congenital-infantile fibrosarcoma of the foot--avoidance of amputation. ( 24908860 )
2014
48
Cytoplasmic expression of Wilms tumor transcription factor-1 (WT1): a useful immunomarker for young-type fibromatoses and infantile fibrosarcoma. ( 25005570 )
2014
49
Orbital infantile fibrosarcoma presenting as intraconal mass in a 2-year-old child: a case report. ( 25033867 )
2014
50
Congenital infantile fibrosarcoma of the colon: a case series and literature review. ( 25150723 )
2014

Variations for Congenital Fibrosarcoma

ClinVar genetic disease variations for Congenital Fibrosarcoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 33 genes:LMNA LMNA-NTRK1 fusion fusion Pathogenic GRCh37 Chromosome 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 13)
# Super pathways Score Top Affiliating Genes
1 12.19 ACTC1 DES VIM
2
Show member pathways
12.18 ACTC1 NTF3 NTRK1 NTRK3
3
Show member pathways
12.08 NTF3 NTRK1 NTRK3
4 11.88 ETV6 EWSR1 NTRK1
5
Show member pathways
11.83 ACTC1 DES TPM3
6 11.7 NTF3 NTRK1 NTRK3
7 11.38 NTF3 NTRK1 NTRK3
8
Show member pathways
11.22 NTF3 NTRK1 NTRK3
9 11.15 NTRK1 NTRK3
10
Show member pathways
11.13 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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