MCID: GRN010
MIFTS: 46

Granular Cell Tumor

Categories: Rare diseases, Cancer diseases

Aliases & Classifications for Granular Cell Tumor

MalaCards integrated aliases for Granular Cell Tumor:

Name: Granular Cell Tumor 12 53 55 44 15 73
Granular Cell Carcinoma 12 15
Giant Granulocellular Abrikosov's Tumor 53
Malignant Variant of Abrikosov's Tumor 53
Abrikosoff's Granulous Cell Tumor 53
Granular Cell Adenocarcinoma 12
Neoplasm of Granular Cell 12
Carcinoma, Granular Cell 73
Abrikosoff's Tumor 53
Abrikosov’s Tumor 53
Abrikosov's Tumor 73

Classifications:



External Ids:

Disease Ontology 12 DOID:2411 DOID:4903
NCIt 50 C3474 C3681

Summaries for Granular Cell Tumor

NIH Rare Diseases : 53 Granular celltumors(GCTs) are soft tissue tumors that can occur anywhere in the body. They are thought to arise from the cells that surround and insulate the nerve cells in our body (Schwann cells). Most granular cell tumors are benign (non-cancerous), although some may be locally aggressive. Less than 2% are malignant (cancerous), but these are aggressive and often are associated with a poor prognosis. GCTs affect females more often than males and usually present as a solitary painless mass. A few individuals have multiple GCTs. In most cases, these tumors are located in the skin of the head and neck, especially inside the mouth (70%), the tongue being the most common site. They may also occur in the breast, heart, pituitary gland, stomach, esophagus, genitalia, and upper respiratory tract. GCTs may be  part of some genetic syndromes, such as LEOPARD syndrome and neurofibromatosis. Complete surgical removal of the tumor is usually curative, but in some cases the tumors may recur.

MalaCards based summary : Granular Cell Tumor, also known as granular cell carcinoma, is related to congenital epulis and epulis. An important gene associated with Granular Cell Tumor is ENO2 (Enolase 2), and among its related pathways/superpathways are Neuroscience and Cytoskeleton remodeling Neurofilaments. The drugs Cyclophosphamide and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include breast, tongue and skin.

Disease Ontology : 12 A carcinoma that derives from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm.

Wikipedia : 76 Granular cell tumor is a tumor that can develop on any skin or mucosal surface, but occurs on the tongue... more...

Related Diseases for Granular Cell Tumor

Diseases in the Granular Cell Tumor family:

Congenital Granular Cell Tumor

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

(show top 50) (show all 259)
# Related Disease Score Top Affiliating Genes
1 congenital epulis 31.2 CD68 DES ENO2 UCHL1 VIM
2 epulis 30.8 DES ENO2 VIM
3 perivascular epithelioid cell tumor 30.5 DES VIM
4 alveolar soft part sarcoma 30.2 DES ENO2 VIM
5 spindle cell carcinoma 30.0 DES ENO2 VIM
6 odontogenic myxoma 29.6 S100B SERPINA3 VIM
7 cystic teratoma 29.6 ENO2 GFAP
8 perineurioma 29.5 GFAP S100B VIM
9 leiomyosarcoma 29.2 DES ENO2 S100B VIM
10 gastrointestinal stromal tumor 28.4 DES ENO2 S100B UCHL1 VIM
11 congenital granular cell tumor 12.2
12 vulvar granular cell tumor 12.2
13 skin granular cell tumor 12.2
14 malignant gastric granular cell tumor 12.1
15 breast granular cell tumor 12.1
16 neurohypophysis granular cell tumor 12.0
17 malignant granular cell myoblastoma 11.7
18 mediastinal granular cell myoblastoma 11.5
19 cardiac granular cell neoplasm 11.5
20 myoblastoma 11.4
21 malignant granular cell esophageal tumor 11.4
22 malignant granular cell skin tumor 11.2
23 papillary tumor of the pineal region 10.8 ENO2 VIM
24 infantile digital fibromatosis 10.7 DES VIM
25 lymphangiomatosis 10.7 DES VIM
26 angiolipoma 10.7 DES VIM
27 spindle cell lipoma 10.7 DES VIM
28 breast rhabdomyosarcoma 10.7 DES ENO2
29 benign metastasizing leiomyoma 10.7 DES VIM
30 malignant ectomesenchymoma 10.7 DES ENO2
31 ectomesenchymoma 10.7 DES ENO2
32 biphasic synovial sarcoma 10.7 DES VIM
33 congenital fibrosarcoma 10.7 DES VIM
34 adenofibroma 10.7 INHA VIM
35 chondroid chordoma 10.7 ENO2 VIM
36 hydromyelia 10.6 S100B VIM
37 microcystic adenoma 10.6 ENO2 INHA
38 reticulum cell sarcoma 10.6 DES VIM
39 mesenchymal chondrosarcoma 10.6 DES VIM
40 pseudosarcomatous fibromatosis 10.6 DES VIM
41 primary hepatic neuroendocrine carcinoma 10.6 S100B VIM
42 fibrous meningioma 10.6 S100B VIM
43 liver angiosarcoma 10.6 ENO2 VIM
44 eccrine porocarcinoma 10.6 S100B VIM
45 sertoli cell tumor 10.6 INHA VIM
46 rhabdoid cancer 10.6 DES VIM
47 monophasic synovial sarcoma 10.6 S100B VIM
48 epithelioid malignant peripheral nerve sheath tumor 10.6 ENO2 S100B
49 middle cerebral artery infarction 10.6 ENO2 S100B
50 smooth muscle tumor 10.6 DES VIM

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



Diseases related to Granular Cell Tumor

Symptoms & Phenotypes for Granular Cell Tumor

Drugs & Therapeutics for Granular Cell Tumor

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
3
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
4
Mechlorethamine Approved, Investigational Phase 2, Phase 3 51-75-2 4033
5
Doxil Approved June 1999 Phase 2, Phase 3 31703
6 Alkylating Agents Phase 2, Phase 3
7 Anti-Bacterial Agents Phase 2, Phase 3
8 Antibiotics, Antitubercular Phase 2, Phase 3
9 Antineoplastic Agents, Alkylating Phase 2, Phase 3
10
Isophosphamide mustard Phase 2, Phase 3 0
11 Topoisomerase Inhibitors Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Hydrochloride Before Surgery in Treating Patients With Newly Diagnosed Non-rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery Recruiting NCT02180867 Phase 2, Phase 3 Doxorubicin Hydrochloride;Ifosfamide;Pazopanib Hydrochloride

Search NIH Clinical Center for Granular Cell Tumor

Cochrane evidence based reviews: granular cell tumor

Genetic Tests for Granular Cell Tumor

Anatomical Context for Granular Cell Tumor

MalaCards organs/tissues related to Granular Cell Tumor:

41
Breast, Tongue, Skin, Pituitary, Heart, Colon, Thyroid

Publications for Granular Cell Tumor

Articles related to Granular Cell Tumor:

(show top 50) (show all 694)
# Title Authors Year
1
Granular cell tumor of the pancreas diagnosed by endoscopic ultrasound-guided fine-needle aspiration. ( 29380119 )
2018
2
Ultrasonographic manifestations of a rare granular cell tumor of the accessory breast: A case report. ( 29505520 )
2018
3
Synchronous gastric leiomyoma and intramuscular abdominal wall granular cell tumor with similar imaging features: A case report. ( 29529541 )
2018
4
Oral Granular Cell Tumor Mimicking a Giant Sialolith in a Child. ( 29336800 )
2018
5
Granular cell tumor of the breast: Molecular pathology and clinical management. ( 29900629 )
2018
6
Primary malignant perivascular epithelioid cell neoplasm (PEComa) of the bone mimicking granular cell tumor in core biopsy: A case report and literature review. ( 29435023 )
2018
7
Cytological and histological correlation of granular cell tumor in a series of three cases. ( 29516941 )
2018
8
Colonic Granular Cell Tumor: An Endoscopic and Histopathologic Review with Case Illustration. ( 29531868 )
2018
9
Dermal non-neural granular cell tumor in a 3-year-old child. ( 29766548 )
2018
10
Granular cell tumor in axillary region: A rare entity. ( 29541467 )
2018
11
Granular Cell Tumor: Report of 13 Cases in a Veterans Administration Hospital. ( 29548015 )
2018
12
Intramuscular granular cell tumor of the gluteal region. ( 29423168 )
2018
13
A Tale of Two Tumors: a Case of Concomitant Esophageal Squamous Papilloma and Granular Cell Tumor. ( 29453760 )
2018
14
Granular cell tumor experience at a comprehensive cancer center. ( 29661274 )
2018
15
Coexisting Granular Cell Tumor and Tubular Adenoma of the Ileocecal Valve. ( 29515339 )
2018
16
18F-FDG PET/CT and MRI of a Mediastinal Malignant Granular Cell Tumor With Associated Recurrent Pericarditis. ( 29847320 )
2018
17
Malignant granular cell tumor of the median nerve: a case report with a literature review of 157 cases. ( 29980826 )
2018
18
Clinical and imaging features of granular cell tumor of the neurohypophysis: A retrospective analysis. ( 29489677 )
2018
19
Gastric granular cell tumor in a youth excised by endoscopic submucosal dissection : A case report and literature review. ( 29560700 )
2017
20
Granular cell tumor of the urinary bladder. ( 28861316 )
2017
21
Extent of surgical resection and tumor size predicts prognosis in granular cell tumor of the sellar region. ( 28948361 )
2017
22
Coexistent Squamous Cell Carcinoma and Granular Cell Tumor of Head and Neck Region: Report of Two Very Rare Cases and Review of the Literature. ( 28783989 )
2017
23
Pleural-based granular cell tumor. ( 28670071 )
2017
24
Recurrent granular cell tumor: a case report and review of literature. ( 29057362 )
2017
25
Granular Cell Tumor of Cecum: A Common Tumor in a Rare Site with Diagnostic Challenge. ( 28975016 )
2017
26
Eosinophilic Esophagitis and Esophageal Granular Cell Tumor: An Unexpected Association. ( 28296675 )
2017
27
Congenital Non-Neural Granular Cell Tumor Mimicking Nevus Lipomatosus Superficialis. ( 29200768 )
2017
28
Sellar and suprasellar granular cell tumor of the neurohypophysis: A rare case report and review of the literature. ( 29271018 )
2017
29
A Case of Granular Cell Tumor of the Clitoris in a Postmenopausal Woman. ( 28951863 )
2017
30
Intraorbital Granular Cell Tumor Involving in Medial Rectus and Optic Nerve. ( 28639585 )
2017
31
Granular cell tumor in breast: a case report. ( 28442932 )
2017
32
Unexpected Presentation of Perianal Granular Cell Tumor in a Young Woman. ( 28284459 )
2017
33
Sellar and Suprasellar Granular Cell Tumor of Neurohypophysis. ( 28303860 )
2017
34
Granular cell tumor at an unusual site masquerading as a neurofibroma. ( 28879925 )
2017
35
Granular Cell Tumor of the Neurohypophysis With TFE-3 Expression: A Rare Case Report. ( 28612665 )
2017
36
Diagnosis and Treatment of Esophageal Granular Cell Tumor: A Case Report and Review of the Literature. ( 29359053 )
2017
37
A Granular Cell Tumor of the Rectum: A Case Report and Review of the Literature. ( 29354608 )
2017
38
Lung Metastases from Esophageal Granular Cell Tumor: An Undoubted Criterion for Malignancy. ( 28506712 )
2017
39
A case of symptomatic granular cell tumor of the sellar region with large calcification. ( 28276095 )
2017
40
Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor. ( 28681392 )
2017
41
Granular cell tumor of the esophagus. ( 28366624 )
2017
42
Non-neural granular cell tumor of the uterine corpus mimicking uterine leiomyoma: A case report. ( 28781812 )
2017
43
Granular cell tumor of the orbit: pathological features and treatment. ( 28417615 )
2017
44
Granular cell tumor mimicking a squamous cell carcinoma of the tongue: a case report. ( 28057062 )
2017
45
Extra-tongue oral granular cell tumor: Histological and immunohistochemical aspect. ( 27918739 )
2017
46
Congenital Gingival Granular Cell Tumor: A Case Report. ( 28293667 )
2017
47
Multifocal Pulmonary Granular Cell Tumor Presenting with Postobstructive Pneumonia. ( 29163998 )
2017
48
Esophageal Granular Cell Tumor: A Case and Review of the Literature. ( 29317947 )
2017
49
Large malignant granular cell tumor with suprascapular nerve and brachial plexus invasion: A case report and literature review. ( 29095317 )
2017
50
A rare case of perianal granular cell tumor: case report and literature review. ( 28603602 )
2017

Variations for Granular Cell Tumor

Cosmic variations for Granular Cell Tumor:

9
(show top 50) (show all 82)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10662 TP53 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 6
2 COSM607136 TGFBR1 skin,neck,carcinoma,NS c.1247C>T p.S416F 9:99146601-99146601 6
3 COSM6962965 SMO skin,neck,carcinoma,NS c.1103C>T p.P368L 7:129206332-129206332 6
4 COSM6962990 RARA skin,neck,carcinoma,NS c.1384C>T p.P462S 17:40356221-40356221 6
5 COSM6962984 RAD52 skin,neck,carcinoma,NS c.439G>A p.V147M 12:927173-927173 6
6 COSM6962994 PTPRT skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 6
7 COSM6962992 PTPRT skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 6
8 COSM6962970 PTPRD skin,neck,carcinoma,NS c.1736G>A p.S579N 9:8504347-8504347 6
9 COSM456125 PTPRD skin,neck,carcinoma,NS c.5048C>T p.S1683F 9:8341168-8341168 6
10 COSM1700914 PTPRD skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 6
11 COSM17483 PTCH1 skin,neck,carcinoma,NS c.1729-1G>T p.? 9:95469932-95469932 6
12 COSM17468 PTCH1 skin,neck,carcinoma,NS c.584G>T p.R195M 9:95485685-95485685 6
13 COSM29053 PTCH1 skin,neck,carcinoma,NS c.833G>A p.W278* 9:95480502-95480502 6
14 COSM29072 PTCH1 skin,neck,carcinoma,NS c.1067+1G>A p.? 9:95479968-95479968 6
15 COSM14452 PTCH1 skin,neck,carcinoma,NS c.2321G>A p.G774E 9:95467355-95467355 6
16 COSM6962989 PLCG2 skin,neck,carcinoma,NS c.115G>T p.E39* 16:81786104-81786104 6
17 COSM6962963 PIK3CG skin,neck,carcinoma,NS c.310G>A p.G104R 7:106867871-106867871 6
18 COSM6962964 PIK3CG skin,neck,carcinoma,NS c.3227G>A p.R1076K 7:106905305-106905305 6
19 COSM564 NRAS skin,neck,carcinoma,NS c.35G>A p.G12D 1:114716126-114716126 6
20 COSM6962996 NCOA3 skin,neck,carcinoma,NS c.979C>T p.H327Y 20:47634062-47634062 6
21 COSM4170532 MTOR skin,neck,carcinoma,NS c.3409G>A p.E1137K 1:11212464-11212464 6
22 COSM516 KRAS skin,neck,carcinoma,NS c.34G>T p.G12C 12:25245351-25245351 6
23 COSM6962967 KMT2C skin,neck,carcinoma,NS c.11659C>T p.H3887Y 7:152158874-152158874 6
24 COSM6962983 KMT2A skin,neck,carcinoma,NS c.4377T>G p.C1459W 11:118488658-118488658 6
25 COSM498 HRAS skin,neck,carcinoma,NS c.182A>T p.Q61L 11:533874-533874 6
26 COSM6438927 HGF skin,neck,carcinoma,NS c.974C>T p.P325L 7:81729671-81729671 6
27 COSM6962960 FGFR3 skin,neck,carcinoma,NS c.2421A>G p.*807W 4:1807262-1807262 6
28 COSM6962980 FGFR2 skin,neck,carcinoma,NS c.2234C>T p.S745F 10:121483765-121483765 6
29 COSM6962962 EPHA7 skin,neck,carcinoma,NS c.2468G>A p.G823E 6:93254711-93254711 6
30 COSM5918388 EPHA5 skin,neck,carcinoma,NS c.2608G>A p.E870K 4:65348104-65348104 6
31 COSM6962957 EPHA3 skin,neck,carcinoma,NS c.632T>A p.M211K 3:89210338-89210338 6
32 COSM6946976 EPHA3 skin,neck,carcinoma,NS c.533G>A p.G178E 3:89210239-89210239 6
33 COSM6962956 CASP8 skin,neck,carcinoma,NS c.1382C>T p.T461I 2:201286485-201286485 6
34 COSM3713589 CASP8 skin,neck,carcinoma,NS c.1093C>T p.L365F 2:201285055-201285055 6
35 COSM21323 ATM skin,neck,carcinoma,NS c.1009C>T p.R337C 11:108247071-108247071 6
36 COSM6950941 APC skin,neck,carcinoma,NS c.536C>T p.S179F 5:112780794-112780794 6
37 COSM6962953 AKT3 skin,neck,carcinoma,NS c.1164-1G>A p.? 1:243545598-243545598 6
38 COSM6962993 skin,neck,carcinoma,NS c.1619G>A p.G540E 20:42352227-42352227 6
39 COSM99602 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 6
40 COSM1640830 skin,neck,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 6
41 COSM6962972 skin,neck,carcinoma,NS c.1727G>A p.S576N 9:8504347-8504347 6
42 COSM6962978 skin,neck,carcinoma,NS c.2237C>T p.S746F 10:121483765-121483765 6
43 COSM6962995 skin,neck,carcinoma,NS c.1607C>T p.S536L 20:42352239-42352239 6
44 COSM1350749 skin,neck,carcinoma,NS c.1009C>T p.R337C 11:108247071-108247071 6
45 COSM6962951 skin,neck,carcinoma,NS c.1164-1G>A p.? 1:243545598-243545598 6
46 COSM1700913 skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 6
47 COSM1700915 skin,neck,carcinoma,NS c.1252C>T p.P418S 9:8518130-8518130 6
48 COSM6962982 skin,neck,carcinoma,NS c.4377T>G p.C1459W 11:118488658-118488658 6
49 COSM6962950 skin,neck,carcinoma,NS c.430C>T p.P144S 1:77966737-77966737 6
50 COSM1700912 skin,neck,carcinoma,NS c.1261C>T p.P421S 9:8518130-8518130 6

Expression for Granular Cell Tumor

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

Pathways for Granular Cell Tumor

Pathways related to Granular Cell Tumor according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.79 ENO2 GFAP S100B UCHL1
2
Show member pathways
11.37 DES GFAP VIM
3
Show member pathways
10.91 DES VIM
4 10.7 GFAP S100B VIM

GO Terms for Granular Cell Tumor

Cellular components related to Granular Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.33 DES GFAP VIM
2 intermediate filament cytoskeleton GO:0045111 9.32 DES GFAP
3 photoreceptor inner segment GO:0001917 9.26 ENO2 INHA
4 myelin sheath GO:0043209 9.13 ENO2 GFAP UCHL1
5 neuronal cell body GO:0043025 8.92 ENO2 INHA S100B UCHL1

Biological processes related to Granular Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 long-term synaptic potentiation GO:0060291 9.37 GFAP S100B
2 muscle filament sliding GO:0030049 9.32 DES VIM
3 astrocyte development GO:0014002 9.26 GFAP VIM
4 Bergmann glial cell differentiation GO:0060020 9.16 GFAP VIM
5 intermediate filament-based process GO:0045103 8.96 GFAP VIM
6 intermediate filament organization GO:0045109 8.8 DES GFAP VIM

Molecular functions related to Granular Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.8 DES GFAP VIM

Sources for Granular Cell 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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