MCID: DSM004
MIFTS: 63

Desmoid Tumor

Categories: Rare diseases, Genetic diseases, Muscle diseases

Aliases & Classifications for Desmoid Tumor

MalaCards integrated aliases for Desmoid Tumor:

Name: Desmoid Tumor 49 24 51
Familial Infiltrative Fibromatosis 49 24
Fibromatosis, Familial Infiltrative 49
Musculo-Aponeurotic Fibromatosis 69
Musculoaponeurotic Fibromatosis 24
Desmoid Disorder, Hereditary 49
Desmoid Disease, Hereditary 69
Hereditary Desmoid Disease 24
Fibromatosis, Aggressive 69
Aggressive Fibromatosis 24
Desmoid Fibromatosis 24
Deep Fibromatosis 24
Desmoid Tumors 28
Fif 49

Classifications:



Summaries for Desmoid Tumor

NIH Rare Diseases : 49 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. Last updated: 9/27/2013

MalaCards based summary : Desmoid Tumor, also known as familial infiltrative fibromatosis, is related to desmoid disease, hereditary and familial adenomatous polyposis 1, and has symptoms including hydronephrosis, limitation of joint mobility and subcutaneous nodule. An important gene associated with Desmoid Tumor is APC (APC, WNT Signaling Pathway Regulator), 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, colon and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Genetics Home Reference : 24 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 128)
# Related Disease Score Top Affiliating Genes
1 desmoid disease, hereditary 32.9 APC CTNNB1
2 familial adenomatous polyposis 1 32.7 APC CTNNB1
3 fibromatosis 30.4 APC CTNNB1 KIT
4 gastrointestinal stromal tumor 29.3 KIT PDGFRA PDGFRB
5 undifferentiated pleomorphic sarcoma 29.3 KIT PDGFRA
6 neurofibromatosis, type iv, of riccardi 28.9 KIT PDGFRA
7 leiomyosarcoma 28.7 KIT PDGFRA PDGFRB
8 familial adenomatous polyposis 11.4
9 infantile myofibromatosis 11.0
10 pancreatitis 10.2
11 hepatic adenomas, familial 10.2 APC CTNNB1
12 acinar cell carcinoma 10.1 APC CTNNB1
13 intestinal benign neoplasm 10.1 APC CTNNB1
14 mismatch repair cancer syndrome 10.1 APC CTNNB1
15 peutz-jeghers syndrome 10.0 APC CTNNB1
16 episodic pain syndrome, familial, 1 10.0
17 embryonal sarcoma 10.0 CTNNB1 KIT
18 8p11 myeloproliferative syndrome 10.0 KIT PDGFRB
19 uterine carcinosarcoma 10.0 CTNNB1 KIT
20 polymorphous low-grade adenocarcinoma 10.0 CTNNB1 KIT
21 uterine sarcoma 10.0 KIT PDGFRB
22 gastrointestinal system benign neoplasm 10.0 CTNNB1 KIT
23 vascular cancer 10.0 KIT PDGFRB
24 mediastinitis 10.0
25 persistent mullerian duct syndrome 10.0 CTNNB1 KIT
26 colonic benign neoplasm 10.0 APC CTNNB1
27 chronic myelomonocytic leukemia 10.0 KIT PDGFRB
28 organ system benign neoplasm 9.9 CTNNB1 KIT
29 sarcoma 9.9
30 lipomatosis 9.9
31 fibrosarcoma 9.9
32 abdominal wall defect 9.9
33 primary hypereosinophilic syndrome 9.9 PDGFRA PDGFRB
34 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 9.9 PDGFRA PDGFRB
35 corneal dystrophy, subepithelial mucinous 9.9 PDGFRA PDGFRB
36 sarcoma, synovial 9.9 CTNNB1 KIT
37 reticular perineurioma 9.8 KIT PDGFRA
38 lung cancer 9.8
39 chondrosarcoma 9.8
40 gastric cancer 9.8
41 cervicitis 9.8
42 histiocytoma 9.8
43 fibrous histiocytoma 9.8
44 ureteral obstruction 9.8
45 sm-ahnmd 9.8 KIT PDGFRA
46 gastric leiomyosarcoma 9.8 KIT PDGFRA
47 carney triad 9.8 KIT PDGFRA
48 sarcomatoid renal cell carcinoma 9.8 KIT PDGFRA
49 endometrial small cell carcinoma 9.8 KIT PDGFRA
50 pulmonary vein stenosis 9.8 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:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hydronephrosis 31 occasional (7.5%) HP:0000126
2 limitation of joint mobility 31 occasional (7.5%) HP:0001376
3 subcutaneous nodule 31 hallmark (90%) HP:0001482
4 malabsorption 31 frequent (33%) HP:0002024
5 abdominal pain 31 frequent (33%) HP:0002027
6 gastrointestinal hemorrhage 31 occasional (7.5%) HP:0002239
7 osteolysis 31 occasional (7.5%) HP:0002797
8 arthralgia 31 occasional (7.5%) HP:0002829
9 abnormality of the musculature 31 hallmark (90%) HP:0003011
10 myalgia 31 frequent (33%) HP:0003326
11 abnormality of the abdominal wall 31 hallmark (90%) HP:0004298
12 intestinal obstruction 31 occasional (7.5%) HP:0005214
13 abnormality of retinal pigmentation 31 frequent (33%) HP:0007703
14 neoplasm of the skin 31 occasional (7.5%) HP:0008069
15 desmoid tumors 31 hallmark (90%) HP:0100245
16 chest pain 31 occasional (7.5%) HP:0100749
17 sepsis 31 occasional (7.5%) HP:0100806
18 intestinal polyposis 31 frequent (33%) HP:0200008

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

25 (show all 35)
# 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 KIT PDGFRA CTNNB1
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 9.85 PDGFRA
11 Decreased viability GR00221-A-1 9.85 PDGFRA PDGFRB KIT
12 Decreased viability GR00221-A-3 9.85 PDGFRA PDGFRB
13 Decreased viability GR00221-A-4 9.85 PDGFRA PDGFRB
14 Decreased viability GR00301-A 9.85 KIT
15 Decreased viability GR00342-S-1 9.85 PDGFRB
16 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.68 CTNNB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.68 CTNNB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.68 PDGFRA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.68 APC
20 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.68 PDGFRA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.68 APC CTNNB1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.68 APC
23 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.68 CTNNB1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.68 APC
25 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.68 PDGFRA
26 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.68 APC
27 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.68 PDGFRA
28 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 CTNNB1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.68 CTNNB1 APC PDGFRA
30 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.68 CTNNB1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.68 CTNNB1 PDGFRA
32 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.68 CTNNB1 APC
33 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.68 CTNNB1
34 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 PDGFRB CTNNB1 APC
35 Decreased viability in esophageal squamous lineage GR00235-A 9.35 PDGFRA PDGFRB CTNNB1 KIT APC

MGI Mouse Phenotypes related to Desmoid Tumor:

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

Drugs & Therapeutics for Desmoid Tumor

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

(show top 50) (show all 97)
# 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
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
12
Nicotinamide Approved, Investigational, Nutraceutical Phase 3 98-92-0 936
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 Vitamin B Complex Phase 3,Phase 2
22 Anesthetics, Intravenous Phase 3
23 Peripheral Nervous System Agents Phase 3,Phase 2
24 Protein Kinase Inhibitors Phase 3,Phase 2,Phase 1
25 Liver Extracts Phase 3,Phase 1
26 Micronutrients Phase 3
27 Trace Elements Phase 3
28 Nicotinic Acids Phase 3
29 Vitamins Phase 3
30 Folate Nutraceutical Phase 3,Phase 2
31 Cola Nutraceutical Phase 3,Phase 2,Phase 1
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 241903 13342
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
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
39
Aminolevulinic acid Approved Phase 2 106-60-5 137
40
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
41
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
42
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
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 1548887 5352
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
50 Hormones Phase 2,Phase 1

Interventional clinical trials:

(show all 38)

# 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 Toremifene in Treating Patients With Desmoid Tumors Completed NCT00002595 Phase 2 toremifene
8 Vinblastine and Methotrexate in Treating Children With Desmoid Tumors Completed NCT00003019 Phase 2 methotrexate;vinblastine sulfate
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 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
13 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
14 PAZOPANIB Efficacy and Tolerance in Desmoids Tumors Recruiting NCT01876082 Phase 2 PAZOPANIB treatment;Active Comparator: Vinblastine and Methotrexate
15 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
16 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.
17 Study of CB-103 in Adult Patients With Advanced or Metastatic Solid Tumours and Haematological Malignancies Recruiting NCT03422679 Phase 1, Phase 2 CB-103
18 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
19 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
20 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
21 Imatinib in Patients With Desmoid Tumor and Chondrosarcoma Active, not recruiting NCT00928525 Phase 2 Imatinib Mesylate
22 Sulindac and Tamoxifen in Treating Patients With Desmoid Tumor Active, not recruiting NCT00068419 Phase 2 tamoxifen citrate;sulindac
23 A Trial of Imatinib for Patients With Aggressive Desmoid Tumor (Aggressive Fibromatosis) Active, not recruiting NCT02495519 Phase 2 Imatinib
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 Endoxifen in Adults With Hormone Receptor Positive Solid Tumors Active, not recruiting NCT01273168 Phase 1 Z-Endoxifen
30 Tailored Beta-catenin Mutational Approach in Extra-abdominal Sporadic Desmoids Tumor Patients Unknown status NCT02547831
31 Evaluation of the Cryodestruction of Non Abdominopelvic Desmoid Tumors in Patients Progressing Despite Medical Treatment Completed NCT02476305
32 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
33 Studying Genes in Tissue Samples From Younger and Adolescent Patients With Soft Tissue Sarcomas Completed NCT01567046
34 National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis (ALTITUDES) Recruiting NCT02867033
35 Optional Sub-study to Intraoperative Imaging With ICG Registry Recruiting NCT02651246
36 18F-FES PET/CT in Imaging Patients With Desmoid Tumors Active, not recruiting NCT02374931
37 Collecting and Storing Tissue, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma or Other Soft Tissue Sarcoma Active, not recruiting NCT00919269
38 Compassionate Use Protocol for PF-03084014 in Patients With Advanced Solid Tumor Malignancies No longer available NCT02955446 PF-03084014

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 28

Anatomical Context for Desmoid Tumor

MalaCards organs/tissues related to Desmoid Tumor:

38
Bone, Colon, Liver, Breast, Skin, Bone Marrow, Pancreas

Publications for Desmoid Tumor

Articles related to Desmoid Tumor:

(show top 50) (show all 490)
# Title Authors Year
1
Screening-detected desmoid tumor of the breast: findings at conventional imaging and digital breast tomosynthesis. ( 29375894 )
2018
2
Giant pancreatic solid cystic desmoid tumor with two ectopic adrenal tissues. ( 28797989 )
2017
3
An Intra-Abdominal Desmoid Tumor, Embedded in the Pancreas, Preoperatively Diagnosed as an Extragastric Growing Gastrointestinal Stromal Tumor. ( 28512414 )
2017
4
A Mesenteric Desmoid Tumor with Rapid Progression. ( 28250295 )
2017
5
Desmoid Tumor and Silicone Breast Implant Surgery: Is There Really a Connection? A Literature Review. ( 28842766 )
2017
6
Desmoid Tumor of Rectus Abdominis Presenting with Grey-Turner's and Cullen's Sign: A Report of a Rare Case. ( 28584378 )
2017
7
Desmoid tumor of the abdominal wall A case report and literature review. ( 29424372 )
2017
8
Desmoid Tumors in Familial Adenomatous Polyposis. ( 28668823 )
2017
9
Desmoid tumor following abdominally-based free flap breast reconstruction. ( 28210557 )
2017
10
Intrathoracic Desmoid Tumor Arising at Thoracotomy Site Mimicking Lung Cancer Pleural Recurrence. ( 28219574 )
2017
11
Gradually shrinking intra-abdominal desmoid tumor derived from the stomach in a young boy: a case report. ( 28429313 )
2017
12
Sporadic giant intra-abdominal desmoid tumor: A radiological case report. ( 28588785 )
2017
13
Recurrent Enlarging Mesenteric Desmoid Tumor following Remote Surgical Resection. ( 29403670 )
2017
14
Functional and Aesthetic Thorax Reconstruction after Desmoid Tumor Resection. ( 28280682 )
2017
15
Does routine colonoscopy help diagnose familial adenomatous polyposis in patients presenting with desmoid tumors but no gastrointestinal symptoms? ( 27844202 )
2017
16
Pediatric sinonasal desmoid tumor. ( 29121373 )
2017
17
Cesarean section after abdominal mesh repair for pregnancy-related desmoid tumor: a case report. ( 28744163 )
2017
18
Biology and Treatment of Aggressive Fibromatosis or Desmoid Tumor. ( 28578783 )
2017
19
Solid-Cystic Pancreatic Tail Desmoid Tumor with Beta-Catenin Positivity. ( 28331879 )
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
Embolization of a large progressive symptomatic desmoid tumor in the rectus muscle of a female patient with multiple sclerosis: a case report. ( 28641503 )
2017
22
Cancer, Desmoid Tumor ( 29083753 )
2017
23
Efficacy of vinorelbine combined with low-dose methotrexate for treatment of inoperable desmoid tumor and prognostic factor analysis. ( 29142465 )
2017
24
TAMOXIFEN RETINOPATHY DURING TREATMENT OF AN INOPERABLE DESMOID TUMOR. ( 29227350 )
2017
25
A Sporadic Desmoid Tumor: an Exceptional Pancreatic Cystic-Solid Mass. ( 27574352 )
2016
26
Intestinal perforation during chemotherapeutic treatment of intra-abdominal desmoid tumor in patients with Gardner's syndrome: report of two cases. ( 27377916 )
2016
27
Desmoid Tumor After a Minimally Invasive Atrial Septal Defect Closure in an Adolescent. ( 26884451 )
2016
28
Rapid progression of a pregnancy-associated intra-abdominal desmoid tumor in the post-partum period: A case report. ( 27810608 )
2016
29
Recurrent giant cranial desmoid tumor in a 3-year-old boy with familial adenomatous polyposis requiring bifrontoparietal cranioplasty: case report. ( 27635978 )
2016
30
Bilateral desmoid tumor of the breast: case seriesand literature review. ( 27578999 )
2016
31
Sporadic intra-abdominal desmoid tumor: a unusual presentation. ( 27150282 )
2016
32
Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis. ( 26663236 )
2016
33
Surgical Management of Desmoid Tumor of the Female Pelvis: A Case Report. ( 27612912 )
2016
34
Tailored Beta-catenin mutational approach in extra-abdominal sporadic desmoid tumor patients without therapeutic intervention. ( 27565718 )
2016
35
Desmoid Tumor of the Chest Wall Mimicking Recurrent Breast Cancer: Multimodality Imaging Findings. ( 27895871 )
2016
36
Complete remission of pancreatic head desmoid tumor treated by COX-2 inhibitor-a case report. ( 27450394 )
2016
37
Resection and Abdominal Wall Reconstruction of a Desmoid Tumor with Endometrioma Features. ( 27247824 )
2016
38
Occurrence of an intrathoracic desmoid tumor following breast cancer treatment: A case report. ( 26893861 )
2016
39
Risk Factors for the Development of Desmoid Tumor After Colectomy in Patients with Familial Adenomatous Polyposis: Multicenter Retrospective Cohort Study in Japan. ( 27387679 )
2016
40
Laparoscopic excision of abdominal wall desmoid tumor. ( 26781534 )
2016
41
Extra-Abdominal Desmoid Tumor in the Donor Site of an Extended Latissimus Dorsi Flap. ( 26848462 )
2016
42
EXTRA-ABDOMINAL DESMOID TUMOR: LOCAL RECURRENCE AND TREATMENT OPTIONS. ( 27217816 )
2016
43
Breast Desmoid Tumor after Ductal Carcinoma Treatment: Salvaging a DIEP Flap Reconstruction. ( 27975036 )
2016
44
A case of desmoid tumor co-existing with recurrent squamous cell carcinoma in the larynx. ( 27474466 )
2016
45
Desmoid Tumor Showing Intense Uptake on 68Ga PSMA-HBED-CC PET/CT. ( 26909712 )
2016
46
Carbon ion radiotherapy for desmoid tumor of the abdominal wall: a case report. ( 27624694 )
2016
47
Reconstruction of an abdominal wall defect with biologic mesh after resection of a desmoid tumor in a patient with a Gardner's syndrome. ( 27538186 )
2016
48
Pedicled TRAM Flap in Presence of Desmoid Tumor of the Rectus Sheath; a Case Report. ( 27065672 )
2015
49
Desmoid tumor of the pancreas: a case report. ( 25943401 )
2015
50
Intrathoracic desmoid tumor arising at a distance from thoracotomy sites after thoracoscopic segmentectomy: report of a case. ( 25973257 )
2015

Variations for Desmoid Tumor

ClinVar genetic disease variations for Desmoid Tumor:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APC APC, 2-BP INS, CODON 1924 insertion Pathogenic
2 APC NM_000038.5(APC): c.4575_4576ins337 (p.?) insertion Pathogenic GRCh38 Chromosome 5, 112840169: 112840170
3 APC APC, 4-BP DEL, 7929TCTA deletion Pathogenic
4 APC NM_000038.5(APC): c.5826_5829delCAGA (p.Asp1942Glufs) deletion Pathogenic rs864622228 GRCh38 Chromosome 5, 112841420: 112841423

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 46)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 APC CTNNB1 KIT PDGFRA PDGFRB
2
Show member pathways
13.32 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
12.9 APC CTNNB1 KIT PDGFRA PDGFRB
7
Show member pathways
12.64 CTNNB1 PDGFRA PDGFRB
8
Show member pathways
12.61 KIT PDGFRA PDGFRB
9
Show member pathways
12.54 APC CTNNB1 KIT PDGFRA PDGFRB
10
Show member pathways
12.51 APC CTNNB1 KIT
11 12.5 KIT PDGFRA PDGFRB
12
Show member pathways
12.48 KIT PDGFRA PDGFRB
13
Show member pathways
12.42 CTNNB1 KIT PDGFRA PDGFRB
14 12.38 APC PDGFRA PDGFRB
15
Show member pathways
12.38 APC CTNNB1 KIT PDGFRA PDGFRB
16
Show member pathways
12.34 CTNNB1 PDGFRA PDGFRB
17 12.27 APC PDGFRA PDGFRB
18
Show member pathways
12.25 APC PDGFRA PDGFRB
19
Show member pathways
12.2 CTNNB1 PDGFRA PDGFRB
20
Show member pathways
12.15 KIT PDGFRA PDGFRB
21
Show member pathways
12.11 APC CTNNB1 PDGFRA PDGFRB
22 12.08 APC CTNNB1 KIT PDGFRA PDGFRB
23
Show member pathways
12.07 APC CTNNB1 KIT
24 12.03 APC CTNNB1 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 11.51 APC CTNNB1
31 11.42 KIT PDGFRA PDGFRB
32 11.38 KIT PDGFRA
33 11.38 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 11.26 PDGFRA PDGFRB
39 11.08 APC CTNNB1
40 10.99 CTNNB1 PDGFRB
41 10.97 APC CTNNB1 PDGFRA PDGFRB
42 10.95 APC CTNNB1
43 10.92 PDGFRA PDGFRB
44 10.78 APC CTNNB1
45 10.77 KIT PDGFRA PDGFRB
46 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-cell adherens junction GO:0005913 9.4 APC CTNNB1
2 adherens junction GO:0005912 9.37 APC CTNNB1
3 lateral plasma membrane GO:0016328 9.32 APC CTNNB1
4 intrinsic component of plasma membrane GO:0031226 9.26 PDGFRA PDGFRB
5 beta-catenin destruction complex GO:0030877 9.16 APC CTNNB1
6 catenin complex GO:0016342 8.96 APC CTNNB1
7 Wnt signalosome GO:1990909 8.62 APC CTNNB1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.78 APC CTNNB1 PDGFRB
2 positive regulation of cell proliferation GO:0008284 9.78 CTNNB1 KIT PDGFRA PDGFRB
3 MAPK cascade GO:0000165 9.76 KIT PDGFRA PDGFRB
4 protein autophosphorylation GO:0046777 9.74 KIT PDGFRA PDGFRB
5 peptidyl-tyrosine phosphorylation GO:0018108 9.73 KIT PDGFRA PDGFRB
6 positive regulation of protein kinase B signaling GO:0051897 9.71 KIT PDGFRA PDGFRB
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.67 KIT PDGFRA PDGFRB
8 positive regulation of MAPK cascade GO:0043410 9.65 CTNNB1 KIT
9 wound healing GO:0042060 9.64 PDGFRA PDGFRB
10 canonical Wnt signaling pathway GO:0060070 9.64 APC CTNNB1
11 hemopoiesis GO:0030097 9.63 CTNNB1 KIT
12 positive regulation of MAP kinase activity GO:0043406 9.63 KIT PDGFRB
13 stem cell population maintenance GO:0019827 9.62 CTNNB1 KIT
14 positive regulation of fibroblast proliferation GO:0048146 9.62 PDGFRA PDGFRB
15 phosphatidylinositol-mediated signaling GO:0048015 9.61 PDGFRA PDGFRB
16 phosphatidylinositol phosphorylation GO:0046854 9.61 KIT PDGFRA PDGFRB
17 T cell differentiation GO:0030217 9.6 CTNNB1 KIT
18 platelet-derived growth factor receptor signaling pathway GO:0048008 9.59 PDGFRA PDGFRB
19 beta-catenin destruction complex disassembly GO:1904886 9.58 APC CTNNB1
20 positive regulation of pseudopodium assembly GO:0031274 9.55 APC KIT
21 cell chemotaxis GO:0060326 9.54 KIT PDGFRA PDGFRB
22 cardiac myofibril assembly GO:0055003 9.52 PDGFRA PDGFRB
23 retina vasculature development in camera-type eye GO:0061298 9.51 PDGFRA PDGFRB
24 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.5 KIT PDGFRA PDGFRB
25 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.46 PDGFRA PDGFRB
26 positive regulation of cell migration GO:0030335 9.46 APC KIT PDGFRA PDGFRB
27 metanephric glomerular capillary formation GO:0072277 9.4 PDGFRA PDGFRB
28 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.26 PDGFRA PDGFRB
29 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.13 KIT PDGFRA PDGFRB
30 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:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.65 KIT PDGFRA PDGFRB
2 protein kinase binding GO:0019901 9.63 APC CTNNB1 PDGFRB
3 nucleotide binding GO:0000166 9.61 KIT PDGFRA PDGFRB
4 protein tyrosine kinase activity GO:0004713 9.54 KIT PDGFRA PDGFRB
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.43 KIT PDGFRA PDGFRB
6 platelet-derived growth factor receptor binding GO:0005161 9.4 PDGFRA PDGFRB
7 platelet-derived growth factor binding GO:0048407 9.32 PDGFRA PDGFRB
8 vascular endothelial growth factor binding GO:0038085 9.16 PDGFRA PDGFRB
9 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 KIT PDGFRA PDGFRB
10 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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