MCID: GNT008
MIFTS: 57

Giant Cell Tumor malady

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Summaries for Giant Cell Tumor

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65Wikipedia, 33MalaCards
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Wikipedia:65 Giant-cell tumor of the bone (GCTOB) is a relatively uncommon tumor of the bone. It is characterized by... more...

MalaCards: Giant Cell Tumor, also known as giant cell tumors, is related to pigmented villonodular synovitis and fibroma. An important gene associated with Giant Cell Tumor is DES (desmin), and among its related pathways are DNA damage ATM ATR regulation of G1 S checkpoint and GADD45 Pathway. The compounds orcein and s 100 have been mentioned in the context of this disorder. Affiliated tissues include bone, monocytes and lung, and related mouse phenotypes are limbs/digits/tail and cardiovascular system.

Aliases & Classifications for Giant Cell Tumor

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8Disease Ontology, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 35MeSH, 40NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases


Aliases & Descriptions:

giant cell tumor 8 10
giant cell tumors 8 45 62
tumor of the giant cell 8
giant cell tumor nos 8
carcinoma giant cell 45
giant cell neoplasm 8


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Disease Ontology8 DOID:200
MeSH35 D005870
NCIt40 C3055, C7069

Related Diseases for Giant Cell Tumor

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17GeneCards, 18GeneDecks
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Diseases in the Giant Cell Tumor family:

Malignant Giant Cell Tumor

Diseases related to Giant Cell Tumor via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 156)
idRelated DiseaseScoreTop Affiliating Genes
1pigmented villonodular synovitis31.3CSF1
2fibroma30.6DES, ACTC1
3osteosarcoma30.5CSF1, ACP5, CCNA2, TP53
4hyperparathyroidism30.4FGF3, NF1, ACP5
5hemangioma30.3NF1, ACTC1, CLU
6adenocarcinoma30.3ACTC1, CCNA2, CLU, TP53
7sarcoma30.3DES, TP53, CLU, CCNA2, ACTC1, CSF1
8leiomyosarcoma30.3S100B, ACTC1, TP53, DES
9spindle cell sarcoma30.2S100B, ACTC1, DES
10dermatofibrosarcoma protuberans30.2DES, ACTC1, S100B
11fibrous histiocytoma30.2DES, ACTC1, S100B
12pleomorphic adenoma30.2DES, ACTC1, S100B
13microphthalmia30.2S100B, ACP5, ACTC1
14fibrosarcoma30.1ACTC1, CLU, DES
15neurofibromatosis30.1NF1, S100B
16myeloma30.1CCNA2, ACP5, CSF1
17osteoarthritis30.0CLU, ACP5, CSF1
18arthritis30.0CLU, ACP5, CSF1
19adenoma30.0TP53, CCNA2, ACTC1, FGF3
20hepatocellular carcinoma29.9TP53, CLU, CCNA2, ACP5, FGF3
21melanoma29.7DES, TP53, CCNA2, ACTC1, CSF1, S100B
22malignant giant cell tumor10.9
23tenosynovial giant cell tumor10.9
24synovitis10.7
25villonodular synovitis10.7
26bone giant cell tumor10.6
27malignant giant cell tumor of soft parts10.6
28aneurysmal bone cysts10.5
29aneurysm10.5
30paget's disease of bone10.5
31malignant giant cell tumor of the tendon sheath10.5
32tuberous sclerosis10.5
33cervicitis10.5
34nodular tenosynovitis10.4
35cystadenocarcinoma10.4
36epulis10.4
37tuberous sclerosis complex10.4
38lung giant cell carcinoma10.4
39osteoblastoma10.3
40mucinous cystadenocarcinoma10.3
41osteoclast-like giant cell neoplasm of the pancreas10.3
42giant cell reparative granuloma10.3
43cherubism10.3
44chondroblastoma10.3
45osteitis fibrosa10.3
46chondrosarcoma10.3
47bone giant cell sarcoma10.2
48primary hyperparathyroidism10.2
49bursitis10.2
50laryngitis10.2

Graphical network of the top 20 diseases related to Giant Cell Tumor:



Diseases related to giant cell tumor

Symptoms for Giant Cell Tumor

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Drugs & Therapeutics for Giant Cell Tumor

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Giant Cell Tumor

Genetic Tests for Giant Cell Tumor

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Anatomical Context for Giant Cell Tumor

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33MalaCards
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MalaCards organs/tissues related to Giant Cell Tumor:

33
Bone, Monocytes, Lung, Pancreas, Salivary gland, Uterus, Skin, Breast, Lymph node, Ovary, Kidney, Thyroid, Spinal cord, Liver, T cells, Prostate, Tongue, Bone marrow

Animal Models for Giant Cell Tumor or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Giant Cell Tumor:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053717.9TP53, ACP5, CSF1, NF1, FGF3
2MP:00053857.7DES, TP53, CLU, ACTC1, CSF1, NF1
3MP:00053867.6DES, TP53, CSF1, S100B, NF1, FGF3
4MP:00028737.6TP53, ACTC1, S100B, NF1, FGF3
5MP:00053907.5TP53, ACP5, COL6A3, CSF1, NF1, FGF3
6MP:00053787.4FGF3, NF1, CSF1, COL6A3, ACTC1, TP53
7MP:00053697.3NF1, DES, TP53, CLU, ACTC1, COL6A3
8MP:00053877.3TP53, CLU, CCNA2, ACP5, CSF1, NF1
9MP:00107687.1DES, TP53, CCNA2, ACTC1, CSF1, NF1

Publications for Giant Cell Tumor

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52PubMed
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Articles related to Giant Cell Tumor:

(show top 50)    (show all 676)
idTitleAuthorsYear
1
MiR-126-5p regulates osteoclast differentiation and bone resorption in giant cell tumor through inhibition of MMP-13. (24360951)
2013
2
Partial response of a rare malignant metastatic diffuse tenosynovial giant cell tumor with benign histologic features, treated with SCH 717-454, an insulin growth factor receptor inhibitor, in combination with everolimus, an MTOR inhibitor. (23430345)
2013
3
A misdiagnosis led to an extensive skull base surgery: infratemporal tuberculosis mimicking giant cell tumor. (24381928)
2013
4
Transarterial embolization (TAE) of sacral giant cell Tumor (GCT) using spherical parmanent embolic material superabsorbant polymer microsphere (SAP-MS). (24353982)
2013
5
Endoscopic endonasal approach for the treatment of a large clival giant cell tumor complicated by an intraoperative internal carotid artery rupture. (23403482)
2013
6
Salivary gland pleomorphic adenoma with giant cell tumor component. (23349467)
2013
7
Giant cell tumor of the distal ulna: a case report. (22657940)
2012
8
Intra-articular tenosynovial giant cell tumor arising from the posterior cruciate ligament. (22784912)
2012
9
RANKL, denosumab, and giant cell tumor of bone. (22581354)
2012
10
Oncogenic osteomalacia from nasal cavity giant cell tumor. (22311466)
2012
11
Giant cell tumor of tendon sheath mimicking pyogenic granuloma in the index finger pulp: a case report. (22351549)
2012
12
Custom made tumor-prosthesis as a primary treatment for giant cell tumor of femur--case report. (21393650)
2011
13
Distal radioulnar joint prosthesis for the treatment of giant cell tumor of the distal ulna: a case report and literature review. (21773775)
2011
14
The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective. (21305305)
2011
15
A case of de novo secondary malignant giant-cell tumor of bone with loss of heterozygosity of p53 gene that transformed within a short-term follow-up. (21924561)
2011
16
Giant cell tumor of the pes anserine bursa (extra-articular pigmented villonodular bursitis): a case report and review of the literature. (21687595)
2011
17
Tenosynovial giant cell tumor of the thigh: positron emission tomography findings. (21869945)
2011
18
Giant-cell tumor of the fourth metacarpal bone in children: case report. (19898253)
2010
19
Multiple giant cell tumors in maxilla and skull complicating Paget's disease of bone. (21319038)
2010
20
Fatal lung metastasis secondary to index finger giant cell tumor in an 8-year-old child. (20488151)
2010
21
Giant cell tumor of the thoracic spine: case report and review of the literature. (18207522)
2009
22
Infiltrating giant cell tumor in a case of Paget's disease of bone. (20234860)
2009
23
Wide resection and stabilization of ulnar stump by extensor carpi ulnaris for giant cell tumor of distal ulna: two case reports. (19830093)
2009
24
Giant cell tumor of the EDL tendon sheath: an unusual cause of hallux valgus. (18510911)
2008
25
Primary giant cell tumor of soft tissue in the finger. (18713588)
2008
26
Giant cell tumor of the nasal cavity: case report. (16977452)
2007
27
Tenosynovial giant cell tumor and pigmented villonodular synovitis: a proposal for unification of these clinically distinct but histologically and genetically identical lesions. (17225151)
2007
28
Giant cell tumor of the rib. (16883463)
2006
29
RANK Expression as a cell surface marker of human osteoclast precursors in peripheral blood, bone marrow, and giant cell tumors of bone. (16939392)
2006
30
Diffuse-type giant cell tumor. (16641758)
2006
31
Use of short implants for functional restoration of the mandible after giant cell tumor removal. Case report. (16688107)
2006
32
Morselized and structural cortical allograft reconstruction after intralesional curettage of a distal femoral giant-cell tumor. (16924858)
2006
33
Multicentric, synchronous giant-cell tumor of bone. (16598336)
2006
34
Osteoclastomalike giant cell tumor of the parotid gland: report of a case with fine needle aspiration diagnosis. (16514845)
2006
35
Giant cell tumor of bone. (16311110)
2006
36
Conditions suggesting lymphoma: case 3. Primary synovial lymphoma with osteoclast-like giant cells presenting as a tenosynovial giant-cell tumor. (15923579)
2005
37
Giant cell tumors: inquiry into immunohistochemical expression of CD117 (c-Kit), microphthalmia transcription factor, tartrate-resistant acid phosphatase, and HAM-56. (15737031)
2005
38
Thapsigargin potentiates TRAIL-induced apoptosis in giant cell tumor of bone. (15193543)
2004
39
Metatarsal giant cell tumors and giant cell reparative granuloma are similar entities. (14646771)
2003
40
RANK (receptor activator of nuclear factor kappa B) and RANK ligand are expressed in giant cell tumors of bone. (11863217)
2002
41
Giant cell tumor of tendon sheath, tenosynovial giant cell tumor, and pigmented villonodular synovitis: defining the presentation, surgical therapy and recurrence. (10671695)
2000
42
Downregulation of glutamate receptor subunit 2(3) in subependymal giant-cell tumor. (10963968)
2000
43
Diffuse variant tenosynovial giant cell tumor of the temporomandibular joint: report of a case. (9710197)
1998
44
Phenotypic characterization of the human fibrous histiocytoma giant cell tumor (GCT) cell line and its cytokine repertoire. (7689482)
1993
45
Cherubism: diagnosis, treatment, and comparison with central giant cell granulomas and giant cell tumors. (1545971)
1992
46
Telomeric associations and consistent growth factor overexpression detected in giant cell tumor of bone. (1756472)
1991
47
Osteoclast-like giant cell tumor of the pancreas: immunophenotypic similarity to giant cell tumor of bone. (1864595)
1991
48
Malignant giant cell tumor of tendon sheath. Report of a case. (2994359)
1985
49
Benign giant cell tumor or localized osteitis fibrosa cystica. (14846598)
1950
50
VON RECKLINGHAUSEN'S DISEASE OR OSTEITIS FIBROSA: WITH REPORT OF A CASE PRESENTING MULTIPLE CYSTS AND GIANT-CELL TUMORS. (17864590)
1922

Variations for Giant Cell Tumor

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Expression for genes affiliated with Giant Cell Tumor

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Giant Cell Tumor

Search GEO for disease gene expression data for Giant Cell Tumor.

Pathways for genes affiliated with Giant Cell Tumor

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50PathCards, 60Thomson Reuters, 53QIAGEN, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Giant Cell Tumor according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2CCNA2, TP53
29.2CCNA2, TP53
3
Show member pathways
9.0FGF3, NF1, CSF1
4
Show member pathways
Signaling Pathways in Glioblastoma38
8.5TP53, NF1, FGF3
5
Show member pathways
MAPK signaling pathway38
8.5TP53, NF1, FGF3
68.3FGF3, CSF1, COL6A3, TP53
7
Show member pathways
7.9DES, TP53, COL6A3, CSF1, NF1

Compounds for genes affiliated with Giant Cell Tumor

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB, 29IUPHAR, 61Tocris Bioscience, 3BitterDB
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Compounds related to Giant Cell Tumor according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1orcein4510.0S100B, ACTC1, DES
2s 1004510.0DES, ACTC1, S100B
3reticulin4510.0S100B, ACTC1, DES
4mucicarmine4510.0DES, ACTC1, S100B
5b 723459.9DES, ACTC1, S100B
6hematoxylin459.9S100B, ACTC1, DES
7procollagen459.8ACP5, ACTC1, DES
8biotin45 24 1111.6DES, ACTC1, CSF1
9imatinib45 51 1111.6DES, ACTC1, CSF1, S100B
10bromodeoxyuridine459.5DES, CCNA2, ACP5, S100B
11iron45 2410.4S100B, ACP5, ACTC1, DES
121,25 dihydroxy vitamin d3459.3CLU, ACP5, CSF1
13cyclosporin a45 29 6111.3CCNA2, ACTC1, ACP5, S100B
14creatinine459.2S100B, CSF1, ACP5, ACTC1, DES
15adpribose459.2DES, TP53, CCNA2
16glycogen45 2410.2S100B, CSF1, ACTC1, CCNA2, DES
17estradiol45 24 1111.2ACP5, CCNA2, CLU, DES
18hydroxyurea45 51 1111.1CSF1, CCNA2, TP53
19colchicine45 61 3 29 1113.0CLU, CCNA2, S100B, NF1
20rapamycin459.0CCNA2, ACP5, CSF1, NF1
21ethanol45 51 24 1112.0S100B, ACP5, CCNA2, CLU, DES
22adenylate458.8NF1, S100B, CSF1, CCNA2, DES
23actinomycin d458.7DES, TP53, CLU, CSF1
24fatty acid458.7DES, CLU, S100B, NF1
25lysine458.7NF1, CSF1, CCNA2, DES
26testosterone45 61 24 1111.7DES, CLU, CCNA2, ACTC1, CSF1, S100B
27lactate458.7DES, CLU, CSF1, S100B
28oxygen45 249.7DES, CLU, CCNA2, ACTC1, ACP5, S100B
29butyrate458.7TP53, CLU, CCNA2, CSF1
30dexamethasone45 51 29 1111.6CLU, CCNA2, ACTC1, ACP5, CSF1, S100B
31dopamine45 29 24 1111.6NF1, S100B, CCNA2, CLU
32heparin45 29 24 1111.5DES, CLU, ACP5, CSF1, S100B, FGF3
33proline458.5DES, TP53, CLU, CCNA2, S100B
34doxorubicin45 51 1110.5DES, TP53, CLU, CCNA2, CSF1
35etoposide45 51 61 1111.4TP53, CLU, CCNA2, CSF1, S100B
36paclitaxel45 51 1110.4TP53, CLU, CCNA2, CSF1, S100B
37cysteine458.4DES, CLU, ACP5, CSF1, S100B, NF1
38thymidine45 249.2DES, TP53, CLU, CCNA2, CSF1, S100B
39h2o2458.1DES, TP53, CLU, CCNA2, ACP5, CSF1
40arginine458.0NF1, S100B, CSF1, CCNA2, TP53, DES
41calcium45 51 24 1111.0DES, CLU, CCNA2, ACTC1, ACP5, S100B
42steroid457.9DES, CLU, CCNA2, ACTC1, S100B, NF1
43oligonucleotide457.9TP53, CLU, CCNA2, NF1, FGF3
44tyrosine457.7DES, CLU, CCNA2, ACTC1, ACP5, CSF1
45serine457.5DES, TP53, CLU, CCNA2, CSF1, S100B
46vegf457.4DES, TP53, CLU, CCNA2, ACTC1, CSF1
47progesterone45 29 61 24 1111.3DES, TP53, CLU, CCNA2, ACTC1, CSF1
48retinoic acid45 248.3DES, TP53, CLU, CCNA2, ACTC1, CSF1
49paraffin456.9NF1, DES, TP53, CLU, CCNA2, ACTC1
50estrogen456.9DES, TP53, CLU, CCNA2, ACTC1, ACP5

GO Terms for genes affiliated with Giant Cell Tumor

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16Gene Ontology
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Cellular components related to Giant Cell Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.5S100B, CSF1, COL6A3, ACTC1, CLU

Biological processes related to Giant Cell Tumor according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:0300499.8DES, ACTC1
2release of cytochrome c from mitochondriaGO:0018369.2TP53, CLU
3negative regulation of neuroblast proliferationGO:0074069.2TP53, NF1
4positive regulation of intrinsic apoptotic signaling pathwayGO:20012449.1CLU, TP53
5negative regulation of fibroblast proliferationGO:0481479.1NF1, TP53
6cell proliferationGO:0082839.0S100B, CSF1, TP53
7innate immune responseGO:0450878.9FGF3, S100B, CSF1, CLU
8Ras protein signal transductionGO:0072658.8NF1, CCNA2, TP53
9positive regulation of neuron apoptotic processGO:0435258.7NF1, TP53
10positive regulation of apoptotic processGO:0430658.4NF1, S100B, CLU, TP53

Products for genes affiliated with Giant Cell Tumor

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Sources for Giant Cell Tumor

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet