MCID: RRT020
MIFTS: 39

Rare Tumor

Categories: Cancer diseases, Eye diseases, Rare diseases

Aliases & Classifications for Rare Tumor

MalaCards integrated aliases for Rare Tumor:

Name: Rare Tumor 58
Rare Neoplasm 58

Classifications:



External Ids:

UMLS via Orphanet 72 C0375111
Orphanet 58 ORPHA98057

Summaries for Rare Tumor

MalaCards based summary : Rare Tumor, also known as rare neoplasm, is related to desmoplastic small round cell tumor and atypical teratoid rhabdoid tumor. An important gene associated with Rare Tumor is EWSR1 (EWS RNA Binding Protein 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Cytoskeletal Signaling. The drugs Rucaparib and Dabrafenib have been mentioned in the context of this disorder. Affiliated tissues include pancreas, ovary and prostate, and related phenotypes are homeostasis/metabolism and mortality/aging

Related Diseases for Rare Tumor

Diseases in the Rare Tumor family:

Rare Eye Tumor

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

(show top 50) (show all 655)
# Related Disease Score Top Affiliating Genes
1 desmoplastic small round cell tumor 31.4 EWSR1 DES ACTC1
2 atypical teratoid rhabdoid tumor 31.0 NF2 EWSR1 DES ACTC1
3 pheochromocytoma 30.6 SST RET MMP2 KIT
4 fibromatosis 30.4 DES ACTC1
5 hemangioma 30.4 RET KIT ACTC1
6 sarcoma 30.3 NF2 KIT EWSR1 ACTC1
7 lipomatosis, multiple 30.3 KIT EWSR1 DES
8 leiomyosarcoma 30.3 KIT DES ACTC1
9 leiomyoma 30.3 KIT DES ACTC1
10 paraganglioma 30.2 SST RET KIT
11 sarcoma, synovial 30.2 KIT EWSR1 DES
12 teratoma 30.2 SST KIT ACTC1
13 carcinosarcoma 30.1 KIT DES ACTC1
14 spindle cell sarcoma 30.1 NF2 KIT EWSR1 DES ACTC1
15 alveolar soft part sarcoma 30.1 RET DES ACTC1
16 sarcomatoid carcinoma 30.0 KIT DES ACTC1
17 syringocystadenoma papilliferum 30.0 DES ACTC1
18 spindle cell lipoma 30.0 DES ACTC1
19 neurilemmoma 29.9 NF2 KIT DES ACTC1
20 angiomyolipoma 29.9 KIT DES ACTC1
21 chondromyxoid fibroma 29.9 DES ACTC1
22 hemangiopericytoma, malignant 29.9 KIT DES ACTC1
23 congenital fibrosarcoma 29.9 EWSR1 DES ACTC1
24 neurofibroma 29.9 NF2 KIT ACTC1
25 dermatofibrosarcoma protuberans 29.9 KIT DES ACTC1
26 pulmonary blastoma 29.8 SST DES ACTC1
27 follicular dendritic cell sarcoma 29.8 KIT FCER2 CR2
28 ewing sarcoma 29.8 RET KIT EWSR1 DES
29 parachordoma 29.8 DES ACTC1
30 angiolipoma 29.8 DES ACTC1
31 glomangioma 29.8 DES ACTC1
32 biphasic synovial sarcoma 29.8 EWSR1 DES
33 fibrous histiocytoma 29.7 KIT EWSR1 DES ACTC1
34 ossifying fibromyxoid tumor 29.7 DES ACTC1
35 meningioma, familial 29.7 SST RET NF2 LATS2
36 myoepithelial carcinoma 29.7 EWSR1 ACTC1
37 thyroid tumor 29.7 RET MMP2
38 rhabdoid cancer 29.7 NF2 EWSR1 DES ACTC1
39 malignant fibrous histiocytoma 29.7 KIT EWSR1 DES ACTC1
40 bladder leiomyoma 29.7 KIT EWSR1
41 skull base meningioma 29.7 SST NF2
42 adenosarcoma 29.6 KIT DES ACTC1
43 perivascular epithelioid cell tumor 29.6 KIT DES ACTC1
44 glomus tumor 29.6 KIT DES ACTC1
45 embryonal sarcoma 29.6 KIT DES
46 nasal cavity benign neoplasm 29.6 MMP2 KIT
47 chondroma 29.5 KIT ACTC1
48 inflammatory myofibroblastic tumor 29.5 KIT FCER2 DES CR2 ACTC1
49 myxofibrosarcoma 29.4 KIT EWSR1 DES
50 perineurioma 29.4 KIT ACTC1

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



Diseases related to Rare Tumor

Symptoms & Phenotypes for Rare Tumor

MGI Mouse Phenotypes related to Rare Tumor:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 ACTC1 CR2 DES FCER2 KIT LATS2
2 mortality/aging MP:0010768 9.7 ACTC1 CR2 DES FCER2 FSCN1 KIT
3 muscle MP:0005369 9.1 ACTC1 DES KIT LATS2 MMP2 RET

Drugs & Therapeutics for Rare Tumor

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rucaparib Approved, Investigational Phase 2 283173-50-2 9931954
2
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
3
afatinib Approved Phase 2 850140-72-6, 439081-18-2 10184653
4
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
5
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
6
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
7
Pembrolizumab Approved Phase 2 1374853-91-4
8
nivolumab Approved Phase 2 946414-94-4
9
Ipilimumab Approved Phase 2 477202-00-9
10
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
11
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
12
Olaparib Approved Phase 2 763113-22-0 23725625
13
Niraparib Approved, Investigational Phase 2 1038915-60-4 24958200
14
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
15
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5005498 5330286
16
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
17
Pasireotide Approved Phase 2 396091-73-9 9941444
18 Cola Phase 2
19 Immunosuppressive Agents Phase 2
20 Antineoplastic Agents, Immunological Phase 2
21
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
22 Immunologic Factors Phase 2
23 Immunoglobulins Phase 2
24 Antibodies Phase 2
25 Antibodies, Monoclonal Phase 2
26 taxane Phase 2
27 Antimitotic Agents Phase 2
28 Albumin-Bound Paclitaxel Phase 2
29 Tubulin Modulators Phase 2
30 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
31 Protein Kinase Inhibitors Phase 2
32 Imatinib Mesylate Phase 2 220127-57-1 123596
33 Hormone Antagonists Phase 2
34 Hormones Phase 2
35
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
36 Antirheumatic Agents Phase 1
37 Alkylating Agents Phase 1

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Phase 2 Multicenter, Open-label Study of Rucaparib as Treatment for Solid Tumors Associated With Deleterious Mutations in Homologous Recombination Repair Genes Recruiting NCT04171700 Phase 2 Rucaparib
2 Efficacy and Safety of Targeted Precision Therapy in Refractory Tumor With Druggable Molecular Event (Long March Pathway) Recruiting NCT03239015 Phase 2 Gefitinib;Erlotinib;Afatinib;Trastuzumab;Oxazolidine;Olaparib;Everolimus;Cabozantinib;Vemurafenib;Dabrafenib;Palbociclib
3 A Phase 2, Multicenter, Open-label Study to Evaluate the Efficacy and Safety of Trastuzumab Deruxtecan (T-DXd, DS-8201a) for the Treatment of Selected HER2 Expressing Tumors (DESTINY-PanTumor02) Recruiting NCT04482309 Phase 2 Trastuzumab deruxtecan
4 Phase II Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2
5 A Phase II, Open-Label, Single-Arm, Multi-Cohort, Proof-of-Principle Study to Investigate the Efficacy of Cobimetinib and Atezolizumab in Advanced Rare Tumors Recruiting NCT03108131 Phase 2 Atezolizumab;Cobimetinib
6 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
7 Rapid Analysis and Response Evaluation of Combination Anti-Neoplastic Agents in Rare Tumors (RARE CANCER) Trial: RARE 1 Nilotinib and Paclitaxel Recruiting NCT04449549 Phase 2 Nilotinib;Paclitaxel
8 Phase 2 Trial of XL184 (Cabozantinib) an Oral Small-Molecule Inhibitor of Multiple Kinases, in Children and Young Adults With Refractory Sarcomas, Wilms Tumor, and Other Rare Tumors Active, not recruiting NCT02867592 Phase 2 Cabozantinib;Cabozantinib S-malate
9 Platform Study of Genotyping Guided Precision Medicine for Rare Tumors in China Not yet recruiting NCT04423185 Phase 2 Almonertinib 110 MG;Dacomitinib 45 MG;Alectinib 150 MG;Crizotinib 250 MG;Pyrotinib 160/80 MG;Imatinib 400 MG;Niraparib 200/300 MG;Palbociclib 125mg;Vemurafenib 240 MG;Sintilimab 100MG;Atezolizumab 1680 MG
10 An Open Label, Multicenter, Single Arm Study of Pasireotide LAR in Patients With Rare Tumors of Neuroendocrine Origin Terminated NCT00958841 Phase 2 pasireotide LAR
11 Imatinib Mesylate And Cyclophosphamide In Metronomic Administration: Dose Escalation Study Of Imatinib Mesylate in Patient With Rare Tumor (Phase I Study) Completed NCT01046487 Phase 1 Imatinib mesylate, Cyclophosphamide (Dosing level 1 );Imatinib mesylate, Cyclophosphamide (Dosing level 2);Imatinib mesylate, Cyclophosphamide (Dosing level 3)
12 A Phase 1 Dose Escalation Study of Seneca Valley Virus (NTX-010), A Replication-Competent Picornavirus, in Relapsed/Refractory Pediatric Patients With Neuroblastoma, Rhabdomyosarcoma, or Rare Tumors With Neuroendocrine Features Completed NCT01048892 Phase 1 cyclophosphamide
13 Observational Study, for Quality Assessment, of Sarcoma as a Model to Improve Diagnosis and Clinical Care of Rare Tumors Through a European and Latin American Multidisciplinary NETWORK Recruiting NCT04181970
14 Molecular-guided Therapy for the Treatment of Patients With Relapsed and Refractory Childhood Cancers Active, not recruiting NCT02162732
15 A Feasibility Trial Using Molecular-Guided Therapy for the Treatment of Patients With Relapsed and Refractory Childhood Cancer Active, not recruiting NCT01802567
16 Rare Tumor Case Review Terminated NCT00229879

Search NIH Clinical Center for Rare Tumor

Genetic Tests for Rare Tumor

Anatomical Context for Rare Tumor

MalaCards organs/tissues related to Rare Tumor:

40
Pancreas, Ovary, Prostate, Cervix, Testis, Lymph Node, Salivary Gland

Publications for Rare Tumor

Articles related to Rare Tumor:

(show top 50) (show all 10608)
# Title Authors PMID Year
1
Enteric Type Bartholin Gland Adenocarcinoma: An Unusual Variant of a Rare Neoplasm. 61
31985580 2021
2
Intraductal Carcinomas of the Salivary Gland. 61
33526215 2021
3
Treatment of canine oral papillary squamous cell carcinoma using definitive-intent radiation as a monotherapy-a case series. 61
32975025 2021
4
Giant cell-rich extrapleural solitary fibrous tumor: Cytological findings and differential diagnosis of a rare neoplasm. 61
32940964 2021
5
Neonatal Retinoblastoma. 61
33583507 2021
6
Undifferentiated embryonal sarcoma of the liver: A rare hepatic tumor and its related characteristic radiological features. 61
33488891 2021
7
Clinicopathological characteristics of extranodal follicular dendritic cell sarcoma: A report of two cases. 61
33574921 2021
8
BNCT for primary synovial sarcoma. 61
33444907 2021
9
Fine Needle Aspiration Cytology of Malignant Digestive System Gastrointestinal Neuroectodermal Tumor in a Lymph Node Metastasis from a Previously Diagnosed Liver Primary: A Case Report and Review of Literature. 61
32975903 2021
10
Primary malignant melanoma of the urethra in women: About a case. 61
33384935 2021
11
Clear Cell Adenocarcinoma in Men: A Series of 15 Cases. 61
32960833 2021
12
Clinicopathological characteristics and outcomes in men with mesothelioma of the tunica vaginalis testis: analysis of published case-series data. 61
33559739 2021
13
Thymic epithelial tumors: Do we know all the prognostic factors? 61
33386778 2021
14
A case of desmoplastic myxoid tumor, SMARCB1 mutant, in the pineal region. 61
32901946 2021
15
Pembrolizumab in vaginal and vulvar squamous cell carcinoma: a case series from a phase II basket trial. 61
33574401 2021
16
Intraductal papillary neoplasm of intrahepatic bile ducts complicated by chronic disseminated intravascular coagulation and thrombosis: A case report. 61
33592896 2021
17
Prognosis and management of recurrent and/or metastatic head and neck adenoid cystic carcinoma. 61
33578204 2021
18
Vedolizumab in Crohn's disease with rectal fistulas and presacral abscess: A case report. 61
33584075 2021
19
Ameloblastic Fibroma in Mandibular Anterior Tooth Region: A Case Report. 61
33583881 2021
20
Use of immune repertoire sequencing to resolve discordant microscopic and immunochemical findings in a case of T cell-rich large B cell lymphoma in a young dog. 61
33602231 2021
21
Adenomyoepithelioma of the breast: Case series and literature review. 61
33607537 2021
22
Nasal Septal Angioleiomyoma and Septal Sinus Surgery: A Review of 2 Cases. 61
33530742 2021
23
Intraductal papillary neoplasm of the bile duct - A comprehensive review. 61
33556909 2021
24
Heterogeneous tumor-immune microenvironments between primary and metastatic carcinoid tumors differentially respond to anti-PD-L1 antibody therapy. 61
33300302 2021
25
Papillary tumor of the pineal region in pediatric populations: An additional case and systematic review of a rare tumor entity. 61
33360024 2021
26
Rib Osteoblastoma as a Cause of Neurogenic Thoracic Outlet Syndrome: A Case Report. 61
33556044 2021
27
Randomized, Double-Blind, Placebo-Controlled Phase II Study of Yeast-Brachyury Vaccine (GI-6301) in Combination with Standard-of-Care Radiotherapy in Locally Advanced, Unresectable Chordoma. 61
33594772 2021
28
Incidence, prognostic significance, and survival outcomes of primary cardiac sarcoma: An updated population-based retrospective study. 61
33583817 2021
29
Malignancy in giant cell tumor of bone in the extremities. 61
33251099 2021
30
Pulmonary artery intimal sarcoma mimicking pulmonary thromboembolism: A case report. 61
33578605 2021
31
Low-grade fibromyxoid sarcoma incidentally discovered as an asymptomatic mediastinal mass: a case report and review of the literature. 61
33526082 2021
32
Prognostic Factors in Penile Cancer: Should We Avoid Inguinal Lymph Node Staging? 61
33601381 2021
33
The Prognostic Value of the New Combined Hemo-Eosinophil Inflammation Index (HEI Index): A Multicenter Analysis of Anal Cancer Patients Treated with Concurrent Chemo-Radiation. 61
33562397 2021
34
Duodenal neuroendocrine tumor: A rare case report. 61
33578581 2021
35
Laryngeal Synovial Sarcoma: A Systematic Review of the Last 40 Years of Reported Cases. 61
31309846 2021
36
Uterine carcinosarcoma: Contemporary clinical summary, molecular updates, and future research opportunity. 61
33183764 2021
37
High-grade fetal adenocarcinoma of the lung with abnormal expression of alpha-fetoprotein in a female patient: Case report. 61
33607799 2021
38
Right Atrioventricular Myxoma Presenting with Recurrent Syncopal Attacks. 61
33561115 2021
39
The clinicoradiological features and surgical outcomes of primary intracranial fibrosarcoma: a single-institute experience with a systematic review. 61
32036505 2021
40
Clinical Impact of Skin Lesions in Mastocytosis: A Multicenter Study of the European Competence Network on Mastocytosis (ECNM). 61
33581142 2021
41
Laparoscopic resection of a large mixed epithelial-stromal tumour of the seminal vesicle: a rare entity and review of the current literature. 61
33526529 2021
42
Tall cell carcinoma with reversed polarity: A case report of a very rare breast tumor entity and mini-review. 61
33527653 2021
43
Synchronous duodenal mucosa-associated lymphoid tissue lymphoma and gastric cancer. 61
32959165 2021
44
Cerebellopontine Angle and Internal Auditory Canal Lipomas: Case Series and Systematic Review. 61
33567134 2021
45
Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling. 61
33572349 2021
46
A Rare Neoplasm: Primary Adrenal Leiomyosarcoma. 61
33290773 2021
47
Testicular non-seminomatous mixed germ cell tumor with rhabdomyosarcoma and retroperitoneal metastatic mass: A case report. 61
33294376 2021
48
Renal angiomyoadenomatous tumor (RAT): a rare distinct entity with diagnostic challenges-a case report. 61
33415591 2021
49
COL1A1 Is a Potential Prognostic Biomarker and Correlated with Immune Infiltration in Mesothelioma. 61
33490271 2021
50
Metastatic low-grade myoepithelial carcinoma of lung managed with low-dose external beam radiotherapy. 61
33433429 2021

Variations for Rare Tumor

Expression for Rare Tumor

Search GEO for disease gene expression data for Rare Tumor.

Pathways for Rare Tumor

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 RET MMP2 KIT HLA-DRB1 FSCN1 FCER2
2 11.75 NF2 FSCN1 DES ACTC1
3 11.49 MMP2 FSCN1 FCER2
4 10.92 KIT HLA-DRB1 FCER2 CR2
5 10.78 NF2 LATS2

GO Terms for Rare Tumor

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.33 KIT FSCN1 DES
2 lamellipodium GO:0030027 9.13 NF2 FSCN1 ACTC1
3 filopodium GO:0030175 8.8 NF2 FSCN1 ACTC1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.33 RET KIT HLA-DRB1
2 cytokine-mediated signaling pathway GO:0019221 9.26 MMP2 KIT FSCN1 FCER2
3 positive regulation of kinase activity GO:0033674 8.8 RET KIT HLA-DRB1

Sources for Rare Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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