MCID: DSM004
MIFTS: 62

Desmoid Tumor

Categories: Rare diseases, Muscle diseases, Genetic 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 Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and colon, and related phenotypes are hydronephrosis and limitation of joint mobility

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.

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 135)
# Related Disease Score Top Affiliating Genes
1 desmoid disease, hereditary 33.1 APC CTNNB1
2 familial adenomatous polyposis 1 32.8 APC CTNNB1
3 familial adenomatous polyposis 31.9 APC CTNNB1
4 fibromatosis 30.2 APC CTNNB1 KIT
5 undifferentiated pleomorphic sarcoma 29.1 KIT PDGFRA
6 gastrointestinal stromal tumor 28.9 KIT PDGFRA PDGFRB
7 leiomyosarcoma 28.3 KIT PDGFRA PDGFRB
8 infantile myofibromatosis 11.0
9 hepatic adenomas, familial 10.3 APC CTNNB1
10 pancreatitis 10.2
11 intestinal benign neoplasm 10.2 APC CTNNB1
12 mismatch repair cancer syndrome 10.2 APC CTNNB1
13 embryonal sarcoma 10.1 CTNNB1 KIT
14 polymorphous low-grade adenocarcinoma 10.1 CTNNB1 KIT
15 gastrointestinal system benign neoplasm 10.1 CTNNB1 KIT
16 peutz-jeghers syndrome 10.1 APC CTNNB1
17 colorectal adenoma 10.1 APC CTNNB1
18 persistent mullerian duct syndrome 10.1 CTNNB1 KIT
19 8p11 myeloproliferative syndrome 10.0 KIT PDGFRB
20 uterine sarcoma 10.0 KIT PDGFRB
21 organ system benign neoplasm 10.0 CTNNB1 KIT
22 vascular cancer 10.0 KIT PDGFRB
23 mediastinitis 10.0
24 chronic myelomonocytic leukemia 9.9 KIT PDGFRB
25 breast cancer 9.9
26 sarcoma 9.9
27 fibrosarcoma 9.9
28 abdominal wall defect 9.9
29 sarcoma, synovial 9.9 CTNNB1 KIT
30 primary hypereosinophilic syndrome 9.9 PDGFRA PDGFRB
31 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 9.9 PDGFRA PDGFRB
32 lung cancer 9.8
33 chondrosarcoma 9.8
34 gastric cancer 9.8
35 malignant fibroxanthoma 9.8
36 cervicitis 9.8
37 histiocytoma 9.8
38 fibrous histiocytoma 9.8
39 ureteral obstruction 9.8
40 corneal dystrophy, subepithelial mucinous 9.8 PDGFRA PDGFRB
41 uterine carcinosarcoma 9.8 CTNNB1 KIT
42 spinal chordoma 9.8 PDGFRA PDGFRB
43 reticular perineurioma 9.8 KIT PDGFRA
44 sm-ahnmd 9.7 KIT PDGFRA
45 gastric leiomyosarcoma 9.7 KIT PDGFRA
46 sarcomatoid renal cell carcinoma 9.7 KIT PDGFRA
47 endometrial small cell carcinoma 9.7 KIT PDGFRA
48 pulmonary vein stenosis 9.7 KIT PDGFRA
49 lung adenoid cystic carcinoma 9.7 KIT PDGFRA
50 carney triad 9.7 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 hydronephrosis 32 occasional (7.5%) HP:0000126
2 limitation of joint mobility 32 occasional (7.5%) HP:0001376
3 subcutaneous nodule 32 hallmark (90%) HP:0001482
4 malabsorption 32 frequent (33%) HP:0002024
5 abdominal pain 32 frequent (33%) HP:0002027
6 gastrointestinal hemorrhage 32 occasional (7.5%) HP:0002239
7 osteolysis 32 occasional (7.5%) HP:0002797
8 arthralgia 32 occasional (7.5%) HP:0002829
9 abnormality of the musculature 32 hallmark (90%) HP:0003011
10 myalgia 32 frequent (33%) HP:0003326
11 abnormality of the abdominal wall 32 hallmark (90%) HP:0004298
12 intestinal obstruction 32 occasional (7.5%) HP:0005214
13 abnormality of retinal pigmentation 32 frequent (33%) HP:0007703
14 neoplasm of the skin 32 occasional (7.5%) HP:0008069
15 desmoid tumors 32 hallmark (90%) HP:0100245
16 chest pain 32 occasional (7.5%) HP:0100749
17 sepsis 32 occasional (7.5%) HP:0100806
18 intestinal polyposis 32 frequent (33%) HP:0200008

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 PDGFRA CTNNB1 KIT
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 PDGFRA PDGFRB KIT
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 PDGFRA CTNNB1
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 PDGFRA CTNNB1
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 PDGFRA PDGFRB CTNNB1 KIT

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

Drugs & Therapeutics for Desmoid Tumor

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

(show top 50) (show all 103)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
2 Gastrointestinal Agents Phase 4
3 Anti-Bacterial Agents Phase 4,Phase 1,Phase 2
4 Erythromycin Estolate Phase 4
5 Erythromycin Ethylsuccinate Phase 4
6 Erythromycin stearate Phase 4
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
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
11
Nicotinamide Approved, Investigational, Nutraceutical Phase 3 98-92-0 936
12
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
13 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
14 Analgesics Phase 3,Phase 2
15 Central Nervous System Depressants Phase 3
16 Adjuvants, Anesthesia Phase 3
17 Narcotics Phase 3
18 Analgesics, Opioid Phase 3
19 Anesthetics Phase 3,Phase 2
20 Anesthetics, General Phase 3
21 Anesthetics, Intravenous Phase 3
22 Peripheral Nervous System Agents Phase 3,Phase 2
23 Vitamin B Complex Phase 3,Phase 2
24 Liver Extracts Phase 3,Phase 1
25 Protein Kinase Inhibitors Phase 3,Phase 2,Phase 1
26 Micronutrients Phase 3
27 Nicotinic Acids Phase 3
28 Trace Elements Phase 3
29 Vitamins Phase 3
30 Cola Nutraceutical Phase 3,Phase 2,Phase 1,Not Applicable
31 Folate Nutraceutical Phase 3,Phase 2
32 Vitamin B9 Nutraceutical Phase 3,Phase 2
33 Vitamin B3 Nutraceutical Phase 3
34
Toremifene Approved, Investigational Phase 2 89778-26-7 3005573
35
Vinblastine Approved Phase 2 865-21-4 13342 241903
36
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
37
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
38
Aminolevulinic acid Approved Phase 2 106-60-5 137
39
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
40
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
41
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
42
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
43
nivolumab Approved Phase 2 946414-94-4
44
Tamoxifen Approved Phase 2,Phase 1 10540-29-1 2733526
45
Sulindac Approved, Investigational Phase 2 38194-50-2 5352 1548887
46
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
47
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
48 Selective Estrogen Receptor Modulators Phase 2,Phase 1
49 Hormone Antagonists Phase 2,Phase 1,Early Phase 1
50 Hormones Phase 2,Phase 1,Early Phase 1

Interventional clinical trials:

(show all 41)
# 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 Toremifene in Desmoid Tumor: Prospective Clinical Trial and Identification of Potential Molecular Targets Unknown status NCT02353429 Phase 2 Toremifene
7 Vinblastine and Methotrexate in Treating Children With Desmoid Tumors Completed NCT00003019 Phase 2 methotrexate;vinblastine sulfate
8 Toremifene in Treating Patients With Desmoid Tumors Completed NCT00002595 Phase 2 toremifene
9 Study to Evaluate Imatinib in Desmoid Tumors Completed NCT01137916 Phase 2 Imatinib
10 Radiation Therapy in Treating Patients With Aggressive Fibromatoses Completed NCT00030680 Phase 2
11 Imatinib Mesylate in Treating Patients With Recurrent or Refractory Fibromatosis Completed NCT00287846 Phase 1, Phase 2 imatinib mesylate
12 A Trial of Imatinib for Patients With Aggressive Desmoid Tumor (Aggressive Fibromatosis) Completed NCT02495519 Phase 2 Imatinib
13 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
14 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
15 PAZOPANIB Efficacy and Tolerance in Desmoids Tumors Recruiting NCT01876082 Phase 2 PAZOPANIB treatment;Active Comparator: Vinblastine and Methotrexate
16 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
17 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.
18 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
19 Study of CB-103 in Adult Patients With Advanced or Metastatic Solid Tumours and Haematological Malignancies Recruiting NCT03422679 Phase 1, Phase 2 CB-103
20 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
21 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
22 Imatinib in Patients With Desmoid Tumor and Chondrosarcoma Active, not recruiting NCT00928525 Phase 2 Imatinib Mesylate
23 Sulindac and Tamoxifen in Treating Patients With Desmoid Tumor Active, not recruiting NCT00068419 Phase 2 tamoxifen citrate;sulindac
24 Effect of Hydroxyurea as Treatment for Primary Desmoid Tumors Withdrawn NCT00978146 Phase 2 Hydroxyurea
25 A Dose Escalation Study of OMP-54F28 in Subjects With Solid Tumors Completed NCT01608867 Phase 1
26 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)
27 MS-275 in Treating Patients With Advanced Solid Tumors or Lymphoma Completed NCT00020579 Phase 1 entinostat
28 MR-guided High Intensity Focused Ultrasound (HIFU) on Pediatric Solid Tumors Recruiting NCT02076906 Phase 1
29 HIFU Hyperthermia With Liposomal Doxorubicin (DOXIL) for Relapsed or Refractory Pediatric and Young Adult Solid Tumors Recruiting NCT02557854 Phase 1 Doxorubicin HCl liposomal injection
30 Endoxifen in Adults With Hormone Receptor Positive Solid Tumors Active, not recruiting NCT01273168 Phase 1 Z-Endoxifen
31 Phase I, Open-label, Non-randomized Study to Evaluate Safety of BC2059 Not yet recruiting NCT03459469 Phase 1 Tegavivint
32 Tailored Beta-catenin Mutational Approach in Extra-abdominal Sporadic Desmoids Tumor Patients Unknown status NCT02547831
33 Evaluation of the Cryodestruction of Non Abdominopelvic Desmoid Tumors in Patients Progressing Despite Medical Treatment Completed NCT02476305 Not Applicable
34 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
35 Studying Genes in Tissue Samples From Younger and Adolescent Patients With Soft Tissue Sarcomas Completed NCT01567046
36 National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis (ALTITUDES) Recruiting NCT02867033 Not Applicable
37 Optional Sub-study to Intraoperative Imaging With ICG Registry Recruiting NCT02651246
38 18F-FES PET/CT in Imaging Patients With Desmoid Tumors Active, not recruiting NCT02374931 Early Phase 1 F-18 16 Alpha-Fluoroestradiol
39 Collecting and Storing Tissue, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma or Other Soft Tissue Sarcoma Active, not recruiting NCT00919269
40 Compassionate Use Protocol for PF-03084014 in Patients With Advanced Solid Tumor Malignancies No longer available NCT02955446 PF-03084014
41 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, Colon, Liver, Skin, Bone Marrow, Pancreas

Publications for Desmoid Tumor

Articles related to Desmoid Tumor:

(show top 50) (show all 504)
# Title Authors Year
1
Caring for a patient with a desmoid tumor. ( 29794626 )
2018
2
Screening-detected desmoid tumor of the breast: findings at conventional imaging and digital breast tomosynthesis. ( 29375894 )
2018
3
Caring for a patient with a desmoid tumor. ( 29757868 )
2018
4
New intra-abdominal mass after operation for colorectal cancer: desmoid tumor versus peritoneal seeding. ( 29550958 )
2018
5
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
6
Desmoid Tumor. ( 29622108 )
2018
7
Giant Desmoid Tumor Of The Chest Wall With Intrathoracic Growth. ( 29804951 )
2018
8
Fatal Outcome of Recurrent Infantile Pelvic Desmoid Tumor Treated with Tamoxifene. ( 29607829 )
2018
9
Subsequent Development of Desmoid Tumor after a Resected Gastrointestinal Stromal Tumor. ( 29854525 )
2018
10
Cancer, Desmoid Tumor ( 29083753 )
2017
11
Intrathoracic Desmoid Tumor Arising at Thoracotomy Site Mimicking Lung Cancer Pleural Recurrence. ( 28219574 )
2017
12
Functional and Aesthetic Thorax Reconstruction after Desmoid Tumor Resection. ( 28280682 )
2017
13
Biology and Treatment of Aggressive Fibromatosis or Desmoid Tumor. ( 28578783 )
2017
14
Desmoid Tumors in Familial Adenomatous Polyposis. ( 28668823 )
2017
15
Solid-Cystic Pancreatic Tail Desmoid Tumor with Beta-Catenin Positivity. ( 28331879 )
2017
16
Embolization of a large progressive symptomatic desmoid tumor in the rectus muscle of a female patient with multiple sclerosis: a case report. ( 28641503 )
2017
17
Pediatric sinonasal desmoid tumor. ( 29121373 )
2017
18
Does routine colonoscopy help diagnose familial adenomatous polyposis in patients presenting with desmoid tumors but no gastrointestinal symptoms? ( 27844202 )
2017
19
Gradually shrinking intra-abdominal desmoid tumor derived from the stomach in a young boy: a case report. ( 28429313 )
2017
20
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
21
Efficacy of vinorelbine combined with low-dose methotrexate for treatment of inoperable desmoid tumor and prognostic factor analysis. ( 29142465 )
2017
22
Desmoid Tumor of Rectus Abdominis Presenting with Grey-Turner's and Cullen's Sign: A Report of a Rare Case. ( 28584378 )
2017
23
Cesarean section after abdominal mesh repair for pregnancy-related desmoid tumor: a case report. ( 28744163 )
2017
24
Desmoid tumor following abdominally-based free flap breast reconstruction. ( 28210557 )
2017
25
Recurrent Enlarging Mesenteric Desmoid Tumor following Remote Surgical Resection. ( 29403670 )
2017
26
Desmoid Tumor and Silicone Breast Implant Surgery: Is There Really a Connection? A Literature Review. ( 28842766 )
2017
27
Giant pancreatic solid cystic desmoid tumor with two ectopic adrenal tissues. ( 28797989 )
2017
28
An Intra-Abdominal Desmoid Tumor, Embedded in the Pancreas, Preoperatively Diagnosed as an Extragastric Growing Gastrointestinal Stromal Tumor. ( 28512414 )
2017
29
Desmoid tumor of the abdominal wall A case report and literature review. ( 29424372 )
2017
30
A Mesenteric Desmoid Tumor with Rapid Progression. ( 28250295 )
2017
31
Sporadic giant intra-abdominal desmoid tumor: A radiological case report. ( 28588785 )
2017
32
TAMOXIFEN RETINOPATHY DURING TREATMENT OF AN INOPERABLE DESMOID TUMOR. ( 29227350 )
2017
33
Carbon ion radiotherapy for desmoid tumor of the abdominal wall: a case report. ( 27624694 )
2016
34
Risk Factors for the Development of Desmoid Tumor After Colectomy in Patients with Familial Adenomatous Polyposis: Multicenter Retrospective Cohort Study in Japan. ( 27387679 )
2016
35
Resection and Abdominal Wall Reconstruction of a Desmoid Tumor with Endometrioma Features. ( 27247824 )
2016
36
EXTRA-ABDOMINAL DESMOID TUMOR: LOCAL RECURRENCE AND TREATMENT OPTIONS. ( 27217816 )
2016
37
Desmoid Tumor After a Minimally Invasive Atrial Septal Defect Closure in an Adolescent. ( 26884451 )
2016
38
Laparoscopic excision of abdominal wall desmoid tumor. ( 26781534 )
2016
39
A case of desmoid tumor co-existing with recurrent squamous cell carcinoma in the larynx. ( 27474466 )
2016
40
Desmoid Tumor of the Chest Wall Mimicking Recurrent Breast Cancer: Multimodality Imaging Findings. ( 27895871 )
2016
41
Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis. ( 26663236 )
2016
42
Extra-Abdominal Desmoid Tumor in the Donor Site of an Extended Latissimus Dorsi Flap. ( 26848462 )
2016
43
Breast Desmoid Tumor after Ductal Carcinoma Treatment: Salvaging a DIEP Flap Reconstruction. ( 27975036 )
2016
44
Bilateral desmoid tumor of the breast: case seriesand literature review. ( 27578999 )
2016
45
Occurrence of an intrathoracic desmoid tumor following breast cancer treatment: A case report. ( 26893861 )
2016
46
Desmoid Tumor Showing Intense Uptake on 68Ga PSMA-HBED-CC PET/CT. ( 26909712 )
2016
47
Rapid progression of a pregnancy-associated intra-abdominal desmoid tumor in the post-partum period: A case report. ( 27810608 )
2016
48
Tailored Beta-catenin mutational approach in extra-abdominal sporadic desmoid tumor patients without therapeutic intervention. ( 27565718 )
2016
49
Recurrent giant cranial desmoid tumor in a 3-year-old boy with familial adenomatous polyposis requiring bifrontoparietal cranioplasty: case report. ( 27635978 )
2016
50
Complete remission of pancreatic head desmoid tumor treated by COX-2 inhibitor-a case report. ( 27450394 )
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 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 APC CTNNB1 KIT PDGFRA PDGFRB
2
Show member pathways
13.3 APC CTNNB1 KIT PDGFRA PDGFRB
3
Show member pathways
13.24 CTNNB1 KIT PDGFRA PDGFRB
4
Show member pathways
13.19 CTNNB1 KIT PDGFRA PDGFRB
5
Show member pathways
12.98 CTNNB1 KIT PDGFRA PDGFRB
6
Show member pathways
12.9 APC CTNNB1 KIT PDGFRA PDGFRB
7
Show member pathways
12.68 KIT PDGFRA PDGFRB
8
Show member pathways
12.64 CTNNB1 PDGFRA PDGFRB
9 12.51 KIT PDGFRA PDGFRB
10
Show member pathways
12.5 APC CTNNB1 KIT
11
Show member pathways
12.48 APC CTNNB1 KIT PDGFRA PDGFRB
12
Show member pathways
12.47 KIT PDGFRA PDGFRB
13
Show member pathways
12.42 CTNNB1 KIT PDGFRA PDGFRB
14 12.37 APC PDGFRA PDGFRB
15
Show member pathways
12.33 CTNNB1 PDGFRA PDGFRB
16
Show member pathways
12.3 APC CTNNB1 KIT PDGFRA PDGFRB
17 12.26 APC PDGFRA PDGFRB
18
Show member pathways
12.24 APC PDGFRA PDGFRB
19
Show member pathways
12.18 CTNNB1 PDGFRA PDGFRB
20
Show member pathways
12.13 KIT PDGFRA PDGFRB
21
Show member pathways
12.11 APC CTNNB1 PDGFRA PDGFRB
22 12.07 APC CTNNB1 KIT PDGFRA PDGFRB
23 12.03 APC CTNNB1 PDGFRA PDGFRB
24
Show member pathways
11.86 PDGFRA PDGFRB
25 11.84 KIT PDGFRA PDGFRB
26 11.64 PDGFRA PDGFRB
27 11.63 PDGFRA PDGFRB
28
Show member pathways
11.6 KIT PDGFRB
29 11.58 APC CTNNB1
30 11.5 APC CTNNB1
31 11.42 KIT PDGFRA PDGFRB
32 11.38 KIT PDGFRA
33 11.37 APC CTNNB1
34
Show member pathways
11.37 KIT PDGFRA PDGFRB
35 11.31 APC CTNNB1
36 11.3 PDGFRA PDGFRB
37 11.27 APC CTNNB1
38 11.25 PDGFRA PDGFRB
39 11.07 APC CTNNB1
40 10.97 CTNNB1 PDGFRB
41 10.97 APC CTNNB1 PDGFRA PDGFRB
42 10.94 APC CTNNB1
43 10.91 PDGFRA PDGFRB
44 10.78 APC CTNNB1
45 10.66 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 41)
# 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 9.85 KIT PDGFRA PDGFRB
3 positive regulation of apoptotic process GO:0043065 9.82 APC CTNNB1 PDGFRB
4 MAPK cascade GO:0000165 9.8 KIT PDGFRA PDGFRB
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 KIT PDGFRA PDGFRB
6 positive regulation of cell proliferation GO:0008284 9.8 CTNNB1 KIT PDGFRA PDGFRB
7 cell migration GO:0016477 9.79 APC PDGFRA PDGFRB
8 protein autophosphorylation GO:0046777 9.76 KIT PDGFRA PDGFRB
9 peptidyl-tyrosine phosphorylation GO:0018108 9.75 KIT PDGFRA PDGFRB
10 positive regulation of protein kinase B signaling GO:0051897 9.73 KIT PDGFRA PDGFRB
11 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.72 KIT PDGFRA PDGFRB
12 negative regulation of signal transduction GO:0009968 9.71 KIT PDGFRA PDGFRB
13 lung development GO:0030324 9.68 CTNNB1 PDGFRA
14 wound healing GO:0042060 9.68 PDGFRA PDGFRB
15 canonical Wnt signaling pathway GO:0060070 9.68 APC CTNNB1
16 hemopoiesis GO:0030097 9.67 CTNNB1 KIT
17 positive regulation of MAP kinase activity GO:0043406 9.67 KIT PDGFRB
18 odontogenesis of dentin-containing tooth GO:0042475 9.67 CTNNB1 PDGFRA
19 stem cell population maintenance GO:0019827 9.66 CTNNB1 KIT
20 positive regulation of fibroblast proliferation GO:0048146 9.66 PDGFRA PDGFRB
21 regulation of cell differentiation GO:0045595 9.65 APC CTNNB1
22 phosphatidylinositol-mediated signaling GO:0048015 9.65 PDGFRA PDGFRB
23 phosphatidylinositol phosphorylation GO:0046854 9.65 KIT PDGFRA PDGFRB
24 T cell differentiation GO:0030217 9.64 CTNNB1 KIT
25 platelet-derived growth factor receptor signaling pathway GO:0048008 9.64 PDGFRA PDGFRB
26 cell chemotaxis GO:0060326 9.63 KIT PDGFRA PDGFRB
27 beta-catenin destruction complex disassembly GO:1904886 9.61 APC CTNNB1
28 cell fate specification GO:0001708 9.61 APC CTNNB1
29 positive regulation of kinase activity GO:0033674 9.61 KIT PDGFRA PDGFRB
30 male genitalia development GO:0030539 9.6 CTNNB1 PDGFRA
31 cardiac myofibril assembly GO:0055003 9.59 PDGFRA PDGFRB
32 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 KIT PDGFRA PDGFRB
33 positive regulation of pseudopodium assembly GO:0031274 9.57 APC KIT
34 positive regulation of cell migration GO:0030335 9.56 APC KIT PDGFRA PDGFRB
35 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.52 PDGFRA PDGFRB
36 retina vasculature development in camera-type eye GO:0061298 9.51 PDGFRA PDGFRB
37 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.37 PDGFRA PDGFRB
38 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.33 KIT PDGFRA PDGFRB
39 metanephric glomerular capillary formation GO:0072277 9.32 PDGFRA PDGFRB
40 positive regulation of MAPK cascade GO:0043410 9.26 CTNNB1 KIT PDGFRA PDGFRB
41 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 14)
# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.71 KIT PDGFRA PDGFRB
2 protein kinase binding GO:0019901 9.7 APC CTNNB1 PDGFRB
3 nucleotide binding GO:0000166 9.69 KIT PDGFRA PDGFRB
4 transmembrane signaling receptor activity GO:0004888 9.67 KIT PDGFRA PDGFRB
5 protein tyrosine kinase activity GO:0004713 9.63 KIT PDGFRA PDGFRB
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.58 KIT PDGFRA PDGFRB
7 MAP kinase kinase kinase activity GO:0004709 9.5 KIT PDGFRA PDGFRB
8 platelet-derived growth factor receptor binding GO:0005161 9.48 PDGFRA PDGFRB
9 platelet-derived growth factor binding GO:0048407 9.43 PDGFRA PDGFRB
10 mitogen-activated protein kinase kinase binding GO:0031434 9.43 KIT PDGFRA PDGFRB
11 vascular endothelial growth factor binding GO:0038085 9.37 PDGFRA PDGFRB
12 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.33 KIT PDGFRA PDGFRB
13 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.13 KIT PDGFRA PDGFRB
14 growth factor binding GO:0019838 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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