FIF
MCID: DSM004
MIFTS: 63

Desmoid Tumor (FIF)

Categories: Gastrointestinal diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Desmoid Tumor

MalaCards integrated aliases for Desmoid Tumor:

Name: Desmoid Tumor 53 25 55
Familial Infiltrative Fibromatosis 53 25
Fibromatosis, Familial Infiltrative 53
Musculo-Aponeurotic Fibromatosis 73
Musculoaponeurotic Fibromatosis 25
Desmoid Disorder, Hereditary 53
Desmoid Disease, Hereditary 73
Hereditary Desmoid Disease 25
Fibromatosis, Aggressive 73
Aggressive Fibromatosis 25
Desmoid Fibromatosis 25
Deep Fibromatosis 25
Desmoid Tumors 29
Fif 53

Classifications:



Summaries for Desmoid Tumor

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 873Disease definitionA desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.EpidemiologyDTs account for Clinical descriptionIn principle, DTs can occur in any part of the body: extra-abdominally (neck, shoulders, upper limbs, gluteal region), abdominally (originating from muscle fascia or the abdominal/chest wall), and more rarely intra-abdominally in the mesentery or retroperitoneum. Usually, they are firm and smooth palpable masses upon discovery. Depending on the location of the tumor, symptoms may include pain, fever, and functional impairment or loss of function of the organ involved. DTs may appear after surgical resections, typically after caesarian section. Intra-abdominal DTs are often observed in patients with an association of familial adenomatous polyposis (FAP) or Gardner syndrome (see these terms).EtiologyDTs result from the proliferation of well-differentiated myofibroblasts. The exact etiopathogenetic mechanism is still unknown, but they seem to have a multi-factorial origin with hormonal and genetic factors being involved. Somatic mutations in the CTNNB1 gene (3q21) encoding beta-catenin have been found in about 85 % of sporadic cases. In cases with FAP, DTs have been associated with mutations in the tumor suppressor geneAPC (5q21-q22) encoding the adenomatous polyposis coli protein.Diagnostic methodsInitial diagnosis is based on imaging techniques (computed tomography and magnetic resonance imaging) revealing the presence of an infiltrative growing mass. Diagnosis is confirmed by tumor biopsy showing abundant collagen surrounding elongated spindle-shaped cells containing small and regular nuclei and pale cytoplasm. Immunohistological examination shows expression of muscle cell markers (e.g. actin, desmin, vimentine) and absence of CD34. Moreover, diagnosis can be confirmed by screening for mutations of CTNNB1.Differential diagnosisThe differential diagnosis is broad with fibrosarcomas on the one extreme and myofibroblastic processes such as nodular fasciitis and even hypertrophic scars and keloids on the other. The differential diagnosis of intra-abdominal DTs includes gastrointestinal stromal tumors, solitary fibrous tumors, inflammatory myofibroblastic tumors, sclerosing mesenteritis and retroperitoneal fibrosis (see these terms).Genetic counselingMost cases are sporadic. Familial cases (5-10 %) are associated with FAP.Management and treatmentComplete surgical resection remains the therapeutic mainstay of DTs. For unresectable tumors or those not amenable to surgical resection with R0 (microscopic tumor clearance) intent or accompanied by an unacceptable function loss, non-surgical treatments comprise radiotherapy, anti-estrogen therapy, non-steroidal anti-inflammatory agents, chemotherapy (e.g. methotrexate, vinblastine/vinorelbine, pegylated liposomal doxorubicin) and/or tyrosine kinase inhibitors (e.g. imatinib, sorafenib). As DTs have a variable and often unpredictable clinical course, a period of watchful waiting is advisable for asymptomatic patients. As DTs often recur, a surveillance strategy every 3-6 months is essential.PrognosisLocal recurrence occurs in around 70 % of cases. Prognosis depends on the type of tumor. Life expectancy is normal for abdominal and extra-abdominal tumors. However, it is lower in cases of intra-abdominal DTs due to complications such as intestinal obstruction, hydronephrosis or sepsis. Repeated surgical resections are associated with a greater risk of morbidity.Visit the Orphanet disease page for more resources.

MalaCards based summary : Desmoid Tumor, also known as familial infiltrative fibromatosis, is related to desmoid disease, hereditary and familial adenomatous polyposis 1. An important gene associated with Desmoid Tumor is CTNNB1 (Catenin Beta 1), and among its related pathways/superpathways are ERK Signaling and HIV Life Cycle. The drugs Erythromycin and Erythromycin Ethylsuccinate have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and lung, and related phenotypes are malabsorption and abnormality of retinal pigmentation

Genetics Home Reference : 25 A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs.

Wikipedia : 76 Aggressive fibromatosis is a rare condition marked by the presence of desmoid tumors. Desmoid tumors... more...

Related Diseases for Desmoid Tumor

Diseases related to Desmoid Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 desmoid disease, hereditary 33.0 APC CTNNB1
2 familial adenomatous polyposis 1 32.7 APC CTNNB1
3 fibromatosis 30.9 APC CTNNB1 KIT
4 gastrointestinal stromal tumor 30.1 KIT PDGFRA PDGFRB
5 undifferentiated pleomorphic sarcoma 29.6 KIT PDGFRA
6 neurilemmoma 29.6 KIT PDGFRA
7 leiomyosarcoma 29.4 KIT PDGFRA PDGFRB
8 familial adenomatous polyposis 11.6
9 infantile myofibromatosis 11.2
10 sarcoma 10.2
11 hepatic adenomas, familial 10.1 APC CTNNB1
12 breast cancer 10.1
13 fibrosarcoma 10.1
14 intestinal benign neoplasm 10.1 APC CTNNB1
15 mismatch repair cancer syndrome 10.0 APC CTNNB1
16 mast-cell leukemia 10.0 CTNNB1 KIT
17 thrombophilia due to thrombin defect 10.0
18 thrombosis 10.0
19 juvenile nasopharyngeal angiofibroma 10.0
20 embryonal sarcoma 10.0 CTNNB1 KIT
21 polymorphous low-grade adenocarcinoma 10.0 CTNNB1 KIT
22 peutz-jeghers syndrome 10.0 APC CTNNB1
23 persistent mullerian duct syndrome 10.0 CTNNB1 KIT
24 colorectal adenoma 10.0 APC CTNNB1
25 pharynx cancer 10.0 CTNNB1 KIT
26 8p11 myeloproliferative syndrome 10.0 KIT PDGFRB
27 uterine sarcoma 10.0 KIT PDGFRB
28 lung cancer 10.0
29 chondrosarcoma 10.0
30 gastric cancer 10.0
31 malignant fibroxanthoma 10.0
32 histiocytoma 10.0
33 fibrous histiocytoma 10.0
34 abdominal wall defect 10.0
35 vascular cancer 10.0 KIT PDGFRB
36 carcinosarcoma 10.0 CTNNB1 KIT
37 primary hypereosinophilic syndrome 10.0 PDGFRA PDGFRB
38 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.0 PDGFRA PDGFRB
39 sarcoma, synovial 10.0 CTNNB1 KIT
40 corneal dystrophy, subepithelial mucinous 9.9 PDGFRA PDGFRB
41 atypical chronic myeloid leukemia 9.9 PDGFRA PDGFRB
42 uterine carcinosarcoma 9.9 CTNNB1 KIT
43 spinal chordoma 9.9 PDGFRA PDGFRB
44 hepatoblastoma 9.9 APC CTNNB1
45 chordoma 9.9 PDGFRA PDGFRB
46 reticular perineurioma 9.9 KIT PDGFRA
47 sm-ahnmd 9.9 KIT PDGFRA
48 gastric leiomyosarcoma 9.9 KIT PDGFRA
49 conventional fibrosarcoma 9.9 KIT PDGFRA
50 endometrial small cell carcinoma 9.9 KIT PDGFRA

Graphical network of the top 20 diseases related to Desmoid Tumor:



Diseases related to Desmoid Tumor

Symptoms & Phenotypes for Desmoid Tumor

Human phenotypes related to Desmoid Tumor:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 malabsorption 32 frequent (33%) HP:0002024
2 abnormality of retinal pigmentation 32 frequent (33%) HP:0007703
3 subcutaneous nodule 32 hallmark (90%) HP:0001482
4 arthralgia 32 occasional (7.5%) HP:0002829
5 abdominal pain 32 frequent (33%) HP:0002027
6 limitation of joint mobility 32 occasional (7.5%) HP:0001376
7 myalgia 32 frequent (33%) HP:0003326
8 intestinal obstruction 32 occasional (7.5%) HP:0005214
9 abnormality of the musculature 32 hallmark (90%) HP:0003011
10 gastrointestinal hemorrhage 32 occasional (7.5%) HP:0002239
11 chest pain 32 occasional (7.5%) HP:0100749
12 neoplasm of the skin 32 occasional (7.5%) HP:0008069
13 sepsis 32 occasional (7.5%) HP:0100806
14 osteolysis 32 occasional (7.5%) HP:0002797
15 hydronephrosis 32 occasional (7.5%) HP:0000126
16 intestinal polyposis 32 frequent (33%) HP:0200008
17 abnormality of the abdominal wall 32 hallmark (90%) HP:0004298
18 desmoid tumors 32 hallmark (90%) HP:0100245

GenomeRNAi Phenotypes related to Desmoid Tumor according to GeneCards Suite gene sharing:

26 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10 PDGFRA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10 KIT
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10 PDGFRA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 10 CTNNB1 KIT PDGFRA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10 CTNNB1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10 PDGFRA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 10 KIT
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10 PDGFRA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10 PDGFRA
10 Decreased viability GR00173-A 9.97 PDGFRA
11 Decreased viability GR00221-A-1 9.97 KIT PDGFRA PDGFRB
12 Decreased viability GR00221-A-3 9.97 PDGFRA PDGFRB
13 Decreased viability GR00221-A-4 9.97 PDGFRA PDGFRB
14 Decreased viability GR00301-A 9.97 KIT
15 Decreased viability GR00342-S-1 9.97 PDGFRB
16 Decreased viability GR00402-S-2 9.97 KIT PDGFRA PDGFRB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.68 CTNNB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.68 CTNNB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.68 PDGFRA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.68 APC
21 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.68 PDGFRA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.68 APC CTNNB1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.68 APC
24 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.68 CTNNB1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.68 APC
26 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.68 PDGFRA
27 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.68 APC
28 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.68 PDGFRA
29 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 CTNNB1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.68 APC CTNNB1 PDGFRA
31 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.68 CTNNB1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.68 CTNNB1 PDGFRA
33 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.68 APC CTNNB1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.68 CTNNB1
35 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.5 APC CTNNB1 PDGFRB
36 Decreased viability in esophageal squamous lineage GR00235-A 9.35 APC CTNNB1 KIT PDGFRA PDGFRB

MGI Mouse Phenotypes related to Desmoid Tumor:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 APC CTNNB1 KIT PDGFRA PDGFRB
2 cardiovascular system MP:0005385 10 APC CTNNB1 KIT PDGFRA PDGFRB
3 cellular MP:0005384 9.99 APC CTNNB1 KIT PDGFRA PDGFRB
4 craniofacial MP:0005382 9.98 APC CTNNB1 KIT PDGFRA PDGFRB
5 digestive/alimentary MP:0005381 9.97 APC CTNNB1 KIT PDGFRA PDGFRB
6 embryo MP:0005380 9.97 APC CTNNB1 KIT PDGFRA PDGFRB
7 endocrine/exocrine gland MP:0005379 9.96 APC CTNNB1 KIT PDGFRA PDGFRB
8 growth/size/body region MP:0005378 9.95 APC CTNNB1 KIT PDGFRA PDGFRB
9 hematopoietic system MP:0005397 9.93 APC CTNNB1 KIT PDGFRA PDGFRB
10 immune system MP:0005387 9.92 APC CTNNB1 KIT PDGFRA PDGFRB
11 integument MP:0010771 9.91 APC CTNNB1 KIT PDGFRA PDGFRB
12 limbs/digits/tail MP:0005371 9.89 APC CTNNB1 KIT PDGFRA PDGFRB
13 muscle MP:0005369 9.88 APC CTNNB1 KIT PDGFRA PDGFRB
14 nervous system MP:0003631 9.83 APC CTNNB1 KIT PDGFRA PDGFRB
15 normal MP:0002873 9.77 APC CTNNB1 KIT PDGFRA PDGFRB
16 neoplasm MP:0002006 9.76 APC CTNNB1 KIT PDGFRA
17 no phenotypic analysis MP:0003012 9.71 APC CTNNB1 KIT PDGFRA
18 renal/urinary system MP:0005367 9.65 APC CTNNB1 KIT PDGFRA PDGFRB
19 pigmentation MP:0001186 9.62 APC CTNNB1 KIT PDGFRA
20 reproductive system MP:0005389 9.55 APC CTNNB1 KIT PDGFRA PDGFRB
21 skeleton MP:0005390 9.35 APC CTNNB1 KIT PDGFRA PDGFRB
22 vision/eye MP:0005391 8.92 APC CTNNB1 KIT PDGFRB

Drugs & Therapeutics for Desmoid Tumor

Drugs for Desmoid Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 109)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
2 Erythromycin Ethylsuccinate Phase 4
3 Gastrointestinal Agents Phase 4
4 Erythromycin stearate Phase 4
5 Erythromycin Estolate Phase 4
6 Anti-Bacterial Agents Phase 4,Phase 1,Phase 2
7 Anti-Infective Agents Phase 4,Phase 1,Phase 2
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
9
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
10
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
12
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
13 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
14 Cola Phase 3,Phase 2,Phase 1,Not Applicable
15 Central Nervous System Depressants Phase 3
16 Adjuvants, Anesthesia Phase 3
17 Liver Extracts Phase 3,Phase 1
18 Anesthetics, Intravenous Phase 3
19 Analgesics, Opioid Phase 3
20 Peripheral Nervous System Agents Phase 3,Phase 2
21 Anesthetics, General Phase 3
22 Analgesics Phase 3,Phase 2
23 Narcotics Phase 3
24 Anesthetics Phase 3,Phase 2
25 Protein Kinase Inhibitors Phase 3,Phase 2,Phase 1
26 Vitamin B9 Phase 3,Phase 2
27 Folate Phase 3,Phase 2
28 Vitamin B Complex Phase 3,Phase 2
29 Vitamins Phase 3
30 Vitamin B3 Phase 3
31 Nicotinic Acids Phase 3
32 Trace Elements Phase 3
33 Micronutrients Phase 3
34
Toremifene Approved, Investigational Phase 2 89778-26-7 3005573
35
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
36
Vinblastine Approved Phase 2 865-21-4 241903 13342
37
leucovorin Approved Phase 2 58-05-9 6006 143
38
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
39
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
40
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
41
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
42
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
43
Aminolevulinic acid Approved Phase 2 106-60-5 137
44
Nivolumab Approved Phase 2 946414-94-4
45
Sulindac Approved, Investigational Phase 2 38194-50-2 5352 1548887
46
Tamoxifen Approved Phase 2,Phase 1 10540-29-1 2733526
47
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
48 Antineoplastic Agents, Hormonal Phase 2,Phase 1
49 Hormones Phase 2,Phase 1,Early Phase 1
50 Selective Estrogen Receptor Modulators Phase 2,Phase 1

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version Unknown status NCT02354560 Phase 4 Erythromycin
2 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4 Erythromycin
3 Prospective Trial Comparing the Performance Profiles of Two Non-Cross-Linked Porcine Dermal Matrices in Abdominal Wall Reconstruction Recruiting NCT02228889 Phase 4
4 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
5 Sorafenib Tosylate in Treating Patients With Desmoid Tumors or Aggressive Fibromatosis Active, not recruiting NCT02066181 Phase 3 Sorafenib Tosylate
6 Nirogacestat for Adults With Desmoid Tumor/Aggressive Fibromatosis (DT/AF) Not yet recruiting NCT03785964 Phase 3 Nirogacestat oral tablet;Placebo Oral Tablet
7 Toremifene in Desmoid Tumor: Prospective Clinical Trial and Identification of Potential Molecular Targets Unknown status NCT02353429 Phase 2 Toremifene
8 Vinblastine and Methotrexate in Treating Children With Desmoid Tumors Completed NCT00003019 Phase 2 methotrexate;vinblastine sulfate
9 Toremifene in Treating Patients With Desmoid Tumors Completed NCT00002595 Phase 2 toremifene
10 Study to Evaluate Imatinib in Desmoid Tumors Completed NCT01137916 Phase 2 Imatinib
11 Radiation Therapy in Treating Patients With Aggressive Fibromatoses Completed NCT00030680 Phase 2
12 Imatinib Mesylate in Treating Patients With Recurrent or Refractory Fibromatosis Completed NCT00287846 Phase 1, Phase 2 imatinib mesylate
13 A Trial of Imatinib for Patients With Aggressive Desmoid Tumor (Aggressive Fibromatosis) Completed NCT02495519 Phase 2 Imatinib
14 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
15 A Pilot Study Evaluating the Use of mTor Inhibitor Sirolimus in Children and Young Adults With Desmoid-Type Fibromatosis Recruiting NCT01265030 Phase 1, Phase 2 Sirolimus
16 PAZOPANIB Efficacy and Tolerance in Desmoids Tumors Recruiting NCT01876082 Phase 2 PAZOPANIB treatment;Active Comparator: Vinblastine and Methotrexate
17 Trial of Nab-paclitaxel in Patients With Desmoid Tumors and Multiply Relapsed/Refractory Desmoplastic Small Round Cell Tumors and Ewing Sarcoma Recruiting NCT03275818 Phase 2 nab paclitaxel
18 Safety and Efficacy Study Using 5-ALA Oral Administration as an Adjuvant Therapy on the Rate of Local Tumor Recurrence in Patients Who Have Desmoids Tumors Recruiting NCT01898416 Phase 2 5-AMINOLEVULINIC ACID (5-ALA), is a non fluorescent prodrug.
19 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
20 Study of CB-103 in Adult Patients With Advanced or Metastatic Solid Tumours and Haematological Malignancies Recruiting NCT03422679 Phase 1, Phase 2 CB-103
21 Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer Recruiting NCT02961374 Phase 2 Erlotinib Hydrochloride
22 Phase II Trial of the Gamma-Secretase Inhibitor PF-03084014 in Adults With Desmoid Tumors/Aggressive Fibromatosis Active, not recruiting NCT01981551 Phase 2 PF-03084014
23 Imatinib in Patients With Desmoid Tumor and Chondrosarcoma Active, not recruiting NCT00928525 Phase 2 Imatinib Mesylate
24 Sulindac and Tamoxifen in Treating Patients With Desmoid Tumor Active, not recruiting NCT00068419 Phase 2 tamoxifen citrate;sulindac
25 A Study to Evaluate the Safety and Efficacy of Vactosertib and Imatinib in Patients With Advanced Desmoid Tumor Not yet recruiting NCT03802084 Phase 1, Phase 2 vactosertib/imatinib combination
26 Effect of Hydroxyurea as Treatment for Primary Desmoid Tumors Withdrawn NCT00978146 Phase 2 Hydroxyurea
27 A Dose Escalation Study of OMP-54F28 in Subjects With Solid Tumors Completed NCT01608867 Phase 1
28 Imatinib Mesylate And Cyclophosphamide In Metronomic Administration: Dose Escalation Study Of Imatinib Mesylate Completed NCT01046487 Phase 1 Imatinib mesylate, Cyclophosphamide (Dosing level 1 );Imatinib mesylate, Cyclophosphamide (Dosing level 2);Imatinib mesylate, Cyclophosphamide (Dosing level 3)
29 MS-275 in Treating Patients With Advanced Solid Tumors or Lymphoma Completed NCT00020579 Phase 1 entinostat
30 Phase I, Open-label, Non-randomized Study to Evaluate Safety of BC2059 Recruiting NCT03459469 Phase 1 Tegavivint
31 A Pilot Study of Intralesional Injection of Triamcinolone Acetonide for Desmoid Tumors Recruiting NCT03627741 Phase 1 Triamcinolone Acetonide
32 MR-guided High Intensity Focused Ultrasound (HIFU) on Pediatric Solid Tumors Recruiting NCT02076906 Phase 1
33 HIFU Hyperthermia With Liposomal Doxorubicin (DOXIL) for Relapsed or Refractory Pediatric and Young Adult Solid Tumors Recruiting NCT02557854 Phase 1 Doxorubicin HCl liposomal injection
34 Endoxifen in Adults With Hormone Receptor Positive Solid Tumors Active, not recruiting NCT01273168 Phase 1 Z-Endoxifen
35 Tailored Beta-catenin Mutational Approach in Extra-abdominal Sporadic Desmoids Tumor Patients Unknown status NCT02547831
36 Evaluation of the Cryodestruction of Non Abdominopelvic Desmoid Tumors in Patients Progressing Despite Medical Treatment Completed NCT02476305 Not Applicable
37 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
38 Studying Genes in Tissue Samples From Younger and Adolescent Patients With Soft Tissue Sarcomas Completed NCT01567046
39 National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis (ALTITUDES) Recruiting NCT02867033 Not Applicable
40 Optional Sub-study to Intraoperative Imaging With ICG Registry Recruiting NCT02651246
41 Project: Every Child for Younger Patients With Cancer Recruiting NCT02402244
42 18F-FES PET/CT in Imaging Patients With Desmoid Tumors Active, not recruiting NCT02374931 Early Phase 1 F-18 16 Alpha-Fluoroestradiol
43 Collecting and Storing Tissue, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma or Other Soft Tissue Sarcoma Active, not recruiting NCT00919269
44 Compassionate Use Protocol for PF-03084014 in Patients With Advanced Solid Tumor Malignancies No longer available NCT02955446 PF-03084014
45 Observational Familial Adenomatous Polyposis Registry Study In Patients Receiving Celecoxib Compared to Control Patients Terminated NCT00151476 Celecoxib

Search NIH Clinical Center for Desmoid Tumor

Genetic Tests for Desmoid Tumor

Genetic tests related to Desmoid Tumor:

# Genetic test Affiliating Genes
1 Desmoid Tumors 29

Anatomical Context for Desmoid Tumor

MalaCards organs/tissues related to Desmoid Tumor:

41
Bone, Breast, Lung, Kidney, Liver, Colon, Heart

Publications for Desmoid Tumor

Articles related to Desmoid Tumor:

(show top 50) (show all 463)
# Title Authors Year
1
Recurrent desmoid tumor arising from latissimus dorsi flap: A case report. ( 30419413 )
2019
2
Caring for a patient with a desmoid tumor. ( 29794626 )
2018
3
Screening-detected desmoid tumor of the breast: findings at conventional imaging and digital breast tomosynthesis. ( 29375894 )
2018
4
Caring for a patient with a desmoid tumor. ( 29757868 )
2018
5
New intra-abdominal mass after operation for colorectal cancer: desmoid tumor versus peritoneal seeding. ( 29550958 )
2018
6
Ex vivo resection and intestinal autotransplantation for a large mesenteric desmoid tumor secondary to familial adenomatous polyposis: A case report and literature review. ( 29768363 )
2018
7
Desmoid Tumor. ( 29622108 )
2018
8
Giant Desmoid Tumor Of The Chest Wall With Intrathoracic Growth. ( 29804951 )
2018
9
Fatal Outcome of Recurrent Infantile Pelvic Desmoid Tumor Treated with Tamoxifene. ( 29607829 )
2018
10
Subsequent Development of Desmoid Tumor after a Resected Gastrointestinal Stromal Tumor. ( 29854525 )
2018
11
Desmoid tumor of the mesentery in a patient after restorative proctocolectomy as a result of familial adenomatous polyposis - case reports. ( 30015324 )
2018
12
EXTRA-ABDOMINAL DESMOID TUMOR: ANALYSIS OF 23 CONSECUTIVE CASES IN A SINGLE INSTITUTION. ( 30210253 )
2018
13
Pancreatic desmoid tumor: A rare case with radiologic-pathologic correlation. ( 30228848 )
2018
14
Giant Intra-Abdominal Desmoid Tumor in a Young Male without History of Surgery, Trauma, or Familial Adenomatous Polyposis. ( 30254784 )
2018
15
Extra-abdominal Desmoid Tumor Mimicking Cervical Spine Schwannoma. ( 30345202 )
2018
16
Association of MRI T2 Signal Intensity With Desmoid Tumor Progression During Active Observation: A Retrospective Cohort Study. ( 30418203 )
2018
17
Successful treatment of a recurrent chest wall desmoid tumor with cyclooxygenase-2 inhibitors. ( 30527567 )
2018
18
INTRA-ABDOMINAL DESMOID TUMOR WITH AN UNUSUAL ORIGIN IN THE INTESTINAL WALL: CASE REPORT. ( 30539985 )
2018
19
Cancer, Desmoid Tumor ( 29083753 )
2017
20
Intrathoracic Desmoid Tumor Arising at Thoracotomy Site Mimicking Lung Cancer Pleural Recurrence. ( 28219574 )
2017
21
Functional and Aesthetic Thorax Reconstruction after Desmoid Tumor Resection. ( 28280682 )
2017
22
Biology and Treatment of Aggressive Fibromatosis or Desmoid Tumor. ( 28578783 )
2017
23
Solid-Cystic Pancreatic Tail Desmoid Tumor with Beta-Catenin Positivity. ( 28331879 )
2017
24
Embolization of a large progressive symptomatic desmoid tumor in the rectus muscle of a female patient with multiple sclerosis: a case report. ( 28641503 )
2017
25
Pediatric sinonasal desmoid tumor. ( 29121373 )
2017
26
Gradually shrinking intra-abdominal desmoid tumor derived from the stomach in a young boy: a case report. ( 28429313 )
2017
27
Chest wall reconstruction following axillary breast augmentation and desmoid tumor resection using capsular flaps and a form-stable silicone implant: A case report, diagnosis and surgical technique. ( 28554106 )
2017
28
Efficacy of vinorelbine combined with low-dose methotrexate for treatment of inoperable desmoid tumor and prognostic factor analysis. ( 29142465 )
2017
29
Desmoid Tumor of Rectus Abdominis Presenting with Grey-Turner's and Cullen's Sign: A Report of a Rare Case. ( 28584378 )
2017
30
Cesarean section after abdominal mesh repair for pregnancy-related desmoid tumor: a case report. ( 28744163 )
2017
31
Desmoid tumor following abdominally-based free flap breast reconstruction. ( 28210557 )
2017
32
Recurrent Enlarging Mesenteric Desmoid Tumor following Remote Surgical Resection. ( 29403670 )
2017
33
Desmoid Tumor and Silicone Breast Implant Surgery: Is There Really a Connection? A Literature Review. ( 28842766 )
2017
34
Giant pancreatic solid cystic desmoid tumor with two ectopic adrenal tissues. ( 28797989 )
2017
35
An Intra-Abdominal Desmoid Tumor, Embedded in the Pancreas, Preoperatively Diagnosed as an Extragastric Growing Gastrointestinal Stromal Tumor. ( 28512414 )
2017
36
Desmoid tumor of the abdominal wall A case report and literature review. ( 29424372 )
2017
37
A Mesenteric Desmoid Tumor with Rapid Progression. ( 28250295 )
2017
38
Erratum to: Carbon ion radiotherapy for desmoid tumor of the abdominal wall: a case report. ( 28468632 )
2017
39
Sporadic giant intra-abdominal desmoid tumor: A radiological case report. ( 28588785 )
2017
40
TAMOXIFEN RETINOPATHY DURING TREATMENT OF AN INOPERABLE DESMOID TUMOR. ( 29227350 )
2017
41
Hump-like giant desmoid tumor of the chest: a postresectional reconstruction challenge. ( 30263993 )
2017
42
Carbon ion radiotherapy for desmoid tumor of the abdominal wall: a case report. ( 27624694 )
2016
43
Risk Factors for the Development of Desmoid Tumor After Colectomy in Patients with Familial Adenomatous Polyposis: Multicenter Retrospective Cohort Study in Japan. ( 27387679 )
2016
44
Resection and Abdominal Wall Reconstruction of a Desmoid Tumor with Endometrioma Features. ( 27247824 )
2016
45
EXTRA-ABDOMINAL DESMOID TUMOR: LOCAL RECURRENCE AND TREATMENT OPTIONS. ( 27217816 )
2016
46
Desmoid Tumor After a Minimally Invasive Atrial Septal Defect Closure in an Adolescent. ( 26884451 )
2016
47
Laparoscopic excision of abdominal wall desmoid tumor. ( 26781534 )
2016
48
A case of desmoid tumor co-existing with recurrent squamous cell carcinoma in the larynx. ( 27474466 )
2016
49
Desmoid Tumor of the Chest Wall Mimicking Recurrent Breast Cancer: Multimodality Imaging Findings. ( 27895871 )
2016
50
Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis. ( 26663236 )
2016

Variations for Desmoid Tumor

Expression for Desmoid Tumor

Search GEO for disease gene expression data for Desmoid Tumor.

Pathways for Desmoid Tumor

Pathways related to Desmoid Tumor according to GeneCards Suite gene sharing:

(show all 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 APC CTNNB1 KIT PDGFRA PDGFRB
2
Show member pathways
13.31 APC CTNNB1 KIT PDGFRA PDGFRB
3
Show member pathways
13.25 CTNNB1 KIT PDGFRA PDGFRB
4
Show member pathways
13.19 CTNNB1 KIT PDGFRA PDGFRB
5
Show member pathways
12.99 CTNNB1 KIT PDGFRA PDGFRB
6
Show member pathways
12.88 APC CTNNB1 KIT PDGFRA PDGFRB
7
Show member pathways
12.64 CTNNB1 PDGFRA PDGFRB
8
Show member pathways
12.56 APC CTNNB1 KIT PDGFRA PDGFRB
9 12.52 KIT PDGFRA PDGFRB
10
Show member pathways
12.52 APC CTNNB1 KIT
11
Show member pathways
12.48 KIT PDGFRA PDGFRB
12
Show member pathways
12.44 CTNNB1 KIT PDGFRA PDGFRB
13
Show member pathways
12.4 APC CTNNB1 KIT PDGFRA PDGFRB
14 12.39 APC PDGFRA PDGFRB
15
Show member pathways
12.34 CTNNB1 PDGFRA PDGFRB
16 12.27 APC PDGFRA PDGFRB
17 12.27 APC CTNNB1 KIT PDGFRA PDGFRB
18
Show member pathways
12.25 APC PDGFRA PDGFRB
19
Show member pathways
12.2 CTNNB1 PDGFRA PDGFRB
20
Show member pathways
12.17 APC CTNNB1 KIT
21
Show member pathways
12.15 APC CTNNB1 PDGFRA PDGFRB
22
Show member pathways
12.13 KIT PDGFRA PDGFRB
23 12.08 APC CTNNB1 PDGFRA PDGFRB
24
Show member pathways
12.02 KIT PDGFRA PDGFRB
25 11.86 KIT PDGFRA PDGFRB
26 11.65 PDGFRA PDGFRB
27
Show member pathways
11.65 APC CTNNB1 KIT PDGFRA PDGFRB
28 11.64 PDGFRA PDGFRB
29
Show member pathways
11.6 KIT PDGFRB
30 11.59 APC CTNNB1
31
Show member pathways
11.54 KIT PDGFRA PDGFRB
32 11.51 APC CTNNB1
33 11.45 KIT PDGFRA PDGFRB
34 11.39 KIT PDGFRA
35 11.39 APC CTNNB1
36 11.32 APC CTNNB1
37 11.31 PDGFRA PDGFRB
38 11.28 APC CTNNB1
39 11.27 PDGFRA PDGFRB
40 11.08 APC CTNNB1
41 10.98 CTNNB1 PDGFRB
42 10.97 APC CTNNB1 PDGFRA PDGFRB
43 10.96 APC CTNNB1
44 10.92 PDGFRA PDGFRB
45 10.79 APC CTNNB1
46 10.77 KIT PDGFRA PDGFRB
47 10.67 PDGFRA PDGFRB

GO Terms for Desmoid Tumor

Cellular components related to Desmoid Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.61 KIT PDGFRA PDGFRB
2 adherens junction GO:0005912 9.4 APC CTNNB1
3 lateral plasma membrane GO:0016328 9.37 APC CTNNB1
4 receptor complex GO:0043235 9.33 KIT PDGFRA PDGFRB
5 intrinsic component of plasma membrane GO:0031226 9.32 PDGFRA PDGFRB
6 catenin complex GO:0016342 9.26 APC CTNNB1
7 beta-catenin destruction complex GO:0030877 8.96 APC CTNNB1
8 Wnt signalosome GO:1990909 8.62 APC CTNNB1

Biological processes related to Desmoid Tumor according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.93 CTNNB1 KIT PDGFRA PDGFRB
2 negative regulation of apoptotic process GO:0043066 9.84 CTNNB1 KIT PDGFRA PDGFRB
3 positive regulation of cell proliferation GO:0008284 9.83 CTNNB1 KIT PDGFRA PDGFRB
4 positive regulation of apoptotic process GO:0043065 9.82 APC CTNNB1 PDGFRB
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 KIT PDGFRA PDGFRB
6 MAPK cascade GO:0000165 9.79 KIT PDGFRA PDGFRB
7 cell migration GO:0016477 9.76 APC PDGFRA PDGFRB
8 peptidyl-tyrosine phosphorylation GO:0018108 9.75 KIT PDGFRA PDGFRB
9 protein autophosphorylation GO:0046777 9.74 KIT PDGFRA PDGFRB
10 positive regulation of protein kinase B signaling GO:0051897 9.73 KIT PDGFRA PDGFRB
11 wound healing GO:0042060 9.68 PDGFRA PDGFRB
12 lung development GO:0030324 9.67 CTNNB1 PDGFRA
13 hemopoiesis GO:0030097 9.67 CTNNB1 KIT
14 positive regulation of MAP kinase activity GO:0043406 9.67 KIT PDGFRB
15 negative regulation of signal transduction GO:0009968 9.67 KIT PDGFRA PDGFRB
16 odontogenesis of dentin-containing tooth GO:0042475 9.66 CTNNB1 PDGFRA
17 stem cell population maintenance GO:0019827 9.66 CTNNB1 KIT
18 positive regulation of fibroblast proliferation GO:0048146 9.65 PDGFRA PDGFRB
19 phosphatidylinositol-mediated signaling GO:0048015 9.65 PDGFRA PDGFRB
20 phosphatidylinositol phosphorylation GO:0046854 9.65 KIT PDGFRA PDGFRB
21 regulation of cell differentiation GO:0045595 9.64 APC CTNNB1
22 T cell differentiation GO:0030217 9.64 CTNNB1 KIT
23 platelet-derived growth factor receptor signaling pathway GO:0048008 9.63 PDGFRA PDGFRB
24 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.63 KIT PDGFRA PDGFRB
25 beta-catenin destruction complex disassembly GO:1904886 9.61 APC CTNNB1
26 cardiac myofibril assembly GO:0055003 9.61 PDGFRA PDGFRB
27 cell chemotaxis GO:0060326 9.61 KIT PDGFRA PDGFRB
28 cell fate specification GO:0001708 9.6 APC CTNNB1
29 male genitalia development GO:0030539 9.59 CTNNB1 PDGFRA
30 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 KIT PDGFRA PDGFRB
31 positive regulation of cell migration GO:0030335 9.56 APC KIT PDGFRA PDGFRB
32 positive regulation of pseudopodium assembly GO:0031274 9.55 APC KIT
33 retina vasculature development in camera-type eye GO:0061298 9.51 PDGFRA PDGFRB
34 metanephric glomerular capillary formation GO:0072277 9.37 PDGFRA PDGFRB
35 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.33 KIT PDGFRA PDGFRB
36 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.32 PDGFRA PDGFRB
37 positive regulation of MAPK cascade GO:0043410 9.26 CTNNB1 KIT PDGFRA PDGFRB
38 positive regulation of phospholipase C activity GO:0010863 8.8 KIT PDGFRA PDGFRB

Molecular functions related to Desmoid Tumor according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.67 KIT PDGFRA PDGFRB
2 protein kinase binding GO:0019901 9.65 APC CTNNB1 PDGFRB
3 nucleotide binding GO:0000166 9.63 KIT PDGFRA PDGFRB
4 transmembrane signaling receptor activity GO:0004888 9.61 KIT PDGFRA PDGFRB
5 protein tyrosine kinase activity GO:0004713 9.54 KIT PDGFRA PDGFRB
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.43 KIT PDGFRA PDGFRB
7 platelet-derived growth factor receptor binding GO:0005161 9.4 PDGFRA PDGFRB
8 platelet-derived growth factor binding GO:0048407 9.32 PDGFRA PDGFRB
9 vascular endothelial growth factor binding GO:0038085 9.16 PDGFRA PDGFRB
10 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 KIT PDGFRA PDGFRB
11 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.8 KIT PDGFRA PDGFRB

Sources for Desmoid Tumor

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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