DSRCT
MCID: DSM007
MIFTS: 54

Desmoplastic Small Round Cell Tumor (DSRCT)

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Desmoplastic Small Round Cell Tumor

MalaCards integrated aliases for Desmoplastic Small Round Cell Tumor:

Name: Desmoplastic Small Round Cell Tumor 12 73 20 58 36 6 15 17 70
Desmoplastic Small Round-Cell Tumor 20 54
Dsrct 20 58
Desmoplastic Small Round-Cell Neoplasm 12

Characteristics:

Orphanet epidemiological data:

58
desmoplastic small round cell tumor
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:6785
KEGG 36 H01985
NCIt 50 C8300
MESH via Orphanet 45 D058405
ICD10 via Orphanet 33 C48.2
UMLS via Orphanet 71 C0281508
Orphanet 58 ORPHA83469
UMLS 70 C0281508

Summaries for Desmoplastic Small Round Cell Tumor

GARD : 20 Desmoplastic small round cell tumor (DSRCT) is a rare type of soft tissue cancer ( sarcoma ) that usually begins in the abdomen. It primarily affects children and young adults and is more common in males. It is formed by small, round cancer cells surrounded by scar-like tissue and is often found in the tissue (peritoneum) that lines the inside of the abdomen and pelvis. The tumor cells have a characteristic genetic change involving a translocation between chromosomes 11 and 22, which is important in differentiating from other similar tumors. The genetic change involved in DSRCT is acquired throughout a person's lifetime and is not inherited. Symptoms may include abdominal pain and a feeling of fullness, abdominal mass, and symptoms of gastrointestinal obstruction, such as constipation. Treatment options may include: chemotherapy, radiation therapy, surgery, and stem cell transplantation.

MalaCards based summary : Desmoplastic Small Round Cell Tumor, also known as desmoplastic small round-cell tumor, is related to rare tumor and sarcomatosis, and has symptoms including pain An important gene associated with Desmoplastic Small Round Cell Tumor is EWSR1 (EWS RNA Binding Protein 1), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Striated Muscle Contraction. The drugs Ipilimumab and nivolumab have been mentioned in the context of this disorder. Affiliated tissues include liver, myeloid and spleen, and related phenotypes are abdominal pain and sarcoma

Disease Ontology : 12 A sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass.

KEGG : 36 Desmoplastic small round cell tumor (DSRCT) is a rare tumor typically involving peritoneum. The concept of DSRCT as a distinct tumor has been strengthened by association with a specific chromosomal abnormality, t(11;22)(pl3;q12) that involves the EWSR1 and WT1 genes. EWSR1 encodes the EWS protein which is a member of the FET family of RNA-binding proteins, while WT1 encodes a zinc-finger transcription factor. Several transcriptional targets of the EWSR1-WT1 chimera have been identified such as Platelet Derived Growth Factor A (PDGFA), IL2 receptor-beta, Myeloid Leukemia Factor 1 (MLF1) or Insulin-like Growth Factor 1 receptor (IGF1-R). Somatic MET and PIK3CA mutations have also been identified.

Wikipedia : 73 Desmoplastic small-round-cell tumor (DSRCT) is an aggressive and rare cancer that primarily occurs as... more...

Related Diseases for Desmoplastic Small Round Cell Tumor

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

(show top 50) (show all 394)
# Related Disease Score Top Affiliating Genes
1 rare tumor 31.8 EWSR1 DES ACTC1
2 sarcomatosis 31.1 WT1 EWSR1
3 spindle cell sarcoma 31.1 VIM MYOG MUC1 EWSR1 DES ACTC1
4 malignant mesenchymoma 31.0 MYOG MYOD1 DES
5 clear cell sarcoma 31.0 WT1 SYP EWSR1 ENO2
6 sarcoma 30.9 WT1 VIM MYOG MUC1 FLI1 EWSR1
7 rhabdomyosarcoma 2 30.9 WT1 MYOG MYOD1 EWSR1 ENO2 DES
8 small cell carcinoma 30.8 SYP PTPRC MUC1 ENO2 CHGA
9 ovarian small cell carcinoma 30.6 WT1 SYP MUC1 ENO2 DES
10 myoepithelial carcinoma 30.6 VIM MUC1 EWSR1 ACTC1
11 budd-chiari syndrome 30.6 VIM PTPRC CHGA
12 adrenal cortical carcinoma 30.6 VIM SYP MUC1 CHGA
13 sarcoma, synovial 30.5 WT1 VIM MYOG MUC1 FLI1 EWSR1
14 gastrointestinal stromal tumor 30.5 WT1 VIM SYP ENO2 DES CHGA
15 sertoli-leydig cell tumor 30.4 WT1 SYP MUC1 ENO2 ALPP
16 ewing sarcoma 30.4 WT1 VIM SYP PTPRC MYOG FLI1
17 wilms tumor 1 30.0 WT1 VIM TSPAN7 PTPRC MYOG MYOD1
18 rhabdoid cancer 29.8 WT1 VIM SYP PTPRC MYOG MYOD1
19 rhabdomyosarcoma 29.6 WT1 VIM SYP PTPRC MYOG MYOD1
20 soft tissue sarcoma 10.7
21 rare soft tissue tumor 10.6
22 infantile digital fibromatosis 10.5 VIM DES
23 malignant melanocytic neoplasm of the peripheral nerve sheath 10.5 SYP ENO2
24 lymphangiomatosis 10.5 VIM DES
25 bednar tumor 10.5 VIM ENO2
26 anal neuroendocrine tumor 10.5 SYP ENO2
27 hydronephrosis 10.5
28 optic nerve astrocytoma 10.5 SYP ENO2
29 cerebral neuroblastoma 10.5 SYP ENO2
30 neuronal intestinal dysplasia, type b 10.5 SYP ENO2
31 lung meningioma 10.5 SYP ENO2
32 pilomatrix carcinoma 10.5 MUC1 ENO2
33 intracranial cysts 10.5 MUC1 ENO2
34 cloacogenic carcinoma 10.5 SYP ENO2
35 extraskeletal mesenchymal chondrosarcoma 10.4 EWSR1 CD99
36 nodular prostate 10.4 SYP ENO2
37 cerebellar liponeurocytoma 10.4 SYP ENO2
38 meningeal melanocytoma 10.4 MUC1 ENO2
39 nodular hidradenoma 10.4 VIM MUC1
40 spermatic cord cancer 10.4 WT1 MYOD1
41 endometrial mucinous adenocarcinoma 10.4 VIM MUC1
42 lung combined type small cell carcinoma 10.4 SYP MYOG
43 congenital epulis 10.4 VIM ENO2 DES
44 epulis 10.4 VIM ENO2 DES
45 retroperitoneal neuroblastoma 10.4 ENO2 CD99
46 bladder small cell carcinoma 10.4 PTPRC MUC1
47 chordoma 10.4 VIM MUC1 DES
48 jejunal neoplasm 10.4 SYP ENO2
49 frontal lobe neoplasm 10.4 SYP ENO2
50 kidney rhabdoid cancer 10.4 SYP EWSR1 ENO2

Graphical network of the top 20 diseases related to Desmoplastic Small Round Cell Tumor:



Diseases related to Desmoplastic Small Round Cell Tumor

Symptoms & Phenotypes for Desmoplastic Small Round Cell Tumor

Human phenotypes related to Desmoplastic Small Round Cell Tumor:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
2 sarcoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0100242
3 abnormality of the peritoneum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002585
4 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
5 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
6 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
7 mediastinal lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0100721
8 ileus 58 31 frequent (33%) Frequent (79-30%) HP:0002595
9 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
10 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
11 cachexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004326
12 neoplasm of the central nervous system 58 31 occasional (7.5%) Occasional (29-5%) HP:0100006
13 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
14 ovarian neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100615
15 neoplasm of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0002894
16 testicular neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0010788
17 weight loss 58 Frequent (79-30%)
18 lymphadenopathy 58 Very frequent (99-80%)

UMLS symptoms related to Desmoplastic Small Round Cell Tumor:


pain

MGI Mouse Phenotypes related to Desmoplastic Small Round Cell Tumor:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 ACTC1 CHGA DES FLI1 MYOD1 MYOG

Drugs & Therapeutics for Desmoplastic Small Round Cell Tumor

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

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ipilimumab Approved Phase 2 477202-00-9
2
nivolumab Approved Phase 2 946414-94-4
3
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
4
Gemcitabine Approved Phase 2 95058-81-4 60750
5
Melphalan Approved Phase 2 148-82-3 4053 460612
6
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
7
Vinorelbine Approved, Investigational Phase 1, Phase 2 71486-22-1 60780 44424639
8
ramucirumab Approved, Investigational Phase 1, Phase 2 947687-13-0
9
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
10
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643 439492
11
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
12
Mycophenolic acid Approved Phase 2 24280-93-1 446541
13
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
14
Irinotecan Approved, Investigational Phase 2 100286-90-6, 97682-44-5 60838
15
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
16
Etoposide Approved Phase 2 33419-42-0 36462
17
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
18
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
19
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
20
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
21
Ifosfamide Approved Phase 2 3778-73-2 3690
22
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
23
Bevacizumab Approved, Investigational Phase 2 216974-75-3
24
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616
25
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
26
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
27
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
28
Exatecan Investigational Phase 2 171335-80-1
29 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
30 insulin Phase 2
31 Mitogens Phase 2
32 Antibodies, Monoclonal Phase 2
33 Insulin, Globin Zinc Phase 2
34 Antiviral Agents Phase 2
35 Liver Extracts Phase 2
36 Antibodies Phase 2
37 Immunoglobulins Phase 2
38 Immunoglobulins, Intravenous Phase 2
39 Thymoglobulin Phase 2
40 Cyclosporins Phase 2
41 gamma-Globulins Phase 2
42 Keratolytic Agents Phase 2
43 Dermatologic Agents Phase 2
44 Rho(D) Immune Globulin Phase 2
45 Antitubercular Agents Phase 2
46 Antilymphocyte Serum Phase 2
47 Antimetabolites Phase 2
48 Calcineurin Inhibitors Phase 2
49 Nitrogen Mustard Compounds Phase 2
50 Podophyllotoxin Phase 2 518-28-5

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 A Phase II Single Arm Study Assessing Efficacy & Safety of Nivolumab Plus Ipilimumab in Nonresectable/Metastatic Sarcoma and Endometrial Carcinoma Patients With Somatic Deficient MMR as a Selection Tool Unknown status NCT02982486 Phase 2 Ipilimumab;Nivolumab
2 Open-label Trial of Imatinib Mesylate in Patients With Refractory Desmoplastic Small Round Cell Tumors (DSRCT) Expressing PDGF-R Completed NCT00417807 Phase 1, Phase 2 Imatinib mesilate
3 A Phase II Study Of Intravenous DX-8951f (EXATECAN MESYLATE) Administered Daily For Five Days Every Three Weeks To Pediatric And Young Adult Patients With Ewing's Sarcoma (ES), Primitive Neuroectodermal Tumor (PNET), Or Desmoplastic Small Round Cell Tumor (DSRCT) Completed NCT00055952 Phase 2 exatecan mesylate
4 A Phase II Study of Gleevec (Imatinib Mesylate, NSC 716051 Formerly STI571) in Children With Refractory or Relapsed Solid Tumors Completed NCT00030667 Phase 2 imatinib mesylate
5 A Phase 1B/II Study of GDC-0449 (NSC 747691) in Combination With RO4929097, a Gamma-Secretase Inhibitor (GSI) in Advanced/Metastatic Sarcomas Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
6 Phase II Trial of Gleevec (STI571) in Therapy of Ewing's Family of Tumors and Desmoplastic Small Round Cell Tumors Completed NCT00062205 Phase 2 imatinib mesylate
7 A Phase 2 Study of AMG 479 in Relapsed or Refractory Ewing's Family Tumor and Desmoplastic Small Round Cell Tumors Completed NCT00563680 Phase 2 AMG 479
8 A Phase II Study of Hyperthermic Peritoneal Perfusion (HIPEC) for Adolescent and Young Adults With Desmoplastic Small Round Cell Tumor and Other Non-Carcinomas Completed NCT01277744 Phase 2 Cisplatin
9 A Randomized, Double-Blind Phase II, Study of Gemcitabine Alone or in Combination With Pazopanib for Refractory Soft Tissue Sarcoma Completed NCT01532687 Phase 2 Gemcitabine;Gemcitabine Hydrochloride;Pazopanib;Pazopanib Hydrochloride
10 A Phase I/II Dose Escalation/Dose Expansion Study of Prexasertib in Combination With Irinotecan in Patients With Relapsed or RefractoryDesmoplastic Small Round Cell Tumor and Rhabdomyosarcoma Recruiting NCT04095221 Phase 1, Phase 2 Prexasertib;Irinotecan
11 A Randomized, Open-Label Phase 1/2 Study Evaluating Ramucirumab in Pediatric Patients and Young Adults With Relapsed, Recurrent, or Refractory Desmoplastic Small Round Cell Tumor Recruiting NCT04145349 Phase 1, Phase 2 Ramucirumab;Cyclophosphamide;Vinorelbine
12 Phase II Trial of 131 I-Omburtamab in Combination With External Beam Radiotherapy for Desmoplastic Small Round Cell Tumors and Other Solid Tumors Involving the Peritoneum Recruiting NCT04022213 Phase 2 131 I-omburtamab
13 A Pilot Study of Allogeneic Hematopoietic Stem Cell Transplantation for Pediatric and Adolescent-Young Adults Patients With High Risk Solid Tumors Recruiting NCT04530487 Phase 2 Cyclosporine;Etoposide;Fludarabine Phosphate;Melphalan;Mycophenolate Mofetil;Tacrolimus;Thiotepa
14 Phase II Trial of Nab-paclitaxel for the Treatment of Desmoid Tumors and Multiply Relapsed/Refractory Desmoplastic Small Round Cell Tumors and Ewing Sarcoma Active, not recruiting NCT03275818 Phase 2 nab paclitaxel
15 Therapeutic Trial for Patients With Ewing Sarcoma Family of Tumor and Desmoplastic Small Round Cell Tumors Active, not recruiting NCT01946529 Phase 2 vincristine;doxorubicin;cyclophosphamide;ifosfamide;etoposide;temozolomide;temsirolimus;bevacizumab;sorafenib
16 Phase 2 Study of High Dose Ascorbic Acid in Solid Tumor Disease Suspended NCT01125449 Phase 2 Ascorbic acid (vitamin C)
17 A Multicenter Phase I Trial of 17-N-allylamino-17-demethoxy Geldanamycin (17-AAG, NSC #330507) in Patients With Recurrent/Refractory Pediatric Solid Tumors (Ewing's Sarcoma, Desmoplastic Small Round Cell Tumor, Osteosarcoma, Neuroblastoma, and Rhabdomyosarcoma) and Leukemia Completed NCT00093821 Phase 1 tanespimycin
18 A Phase 1, Open-label, Dose Escalation Study of MGA271 in Pediatric Patients With B7-H3-Expressing Relapsed or Refractory Solid Tumors Completed NCT02982941 Phase 1 Enoblituzumab
19 A Phase I Study of Continuous Hyperthermic Peritoneal Perfusion (CHPP) With Escalating Doses of Cisplatin for Children With Peritoneal Carcinomatosis or Advanced Peritoneal and Retroperitoneal Disease Completed NCT00436657 Phase 1 CHPP of Cisplatin
20 A Phase 1 Study of Doxorubicin and A12 in Advanced Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
21 An Open-Label, Dose Escalation, Efficacy, and Safety Study of CLR 131 in Children, Adolescents, and Young Adults With Select Solid Tumors, Lymphoma, and Malignant Brain Tumors Recruiting NCT03478462 Phase 1 CLR 131
22 Phase I Study of EGFR806 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults Recruiting NCT03618381 Phase 1
23 Phase I Study of B7H3 CAR T Cell Immunotherapy for Recurrent/Refractory Solid Tumors in Children and Young Adults Recruiting NCT04483778 Phase 1
24 Phase I Study of Intraperitoneal Radioimmunotherapy With 131I-8H9 for Patients With Desmoplastic Small Round Cell Tumors and Other Solid Tumors Involving the Peritoneum Active, not recruiting NCT01099644 Phase 1
25 A Phase I Study of the Chemoprotectant Amifostine With Autologous Stem Cell Transplantation for High Risk or Relapsed Pediatric Solid Tumors and Brain Tumors Terminated NCT00003926 Phase 1 amifostine trihydrate;busulfan;filgrastim;melphalan;thiotepa
26 French National Registry of Rare Peritoneal Surface Malignancies (RENAPE Registry) Unknown status NCT02834169
27 Comprehensive Genome Sequencing of Desmoplastic Small Round Cell Tumors Completed NCT01430637
28 Observational - Potentially Actionable Mutations in Archived Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) Completed NCT01567046
29 Registry for Patients With Desmoplastic Small Round Cell Tumor Recruiting NCT04690374
30 Multimodal Immune Characterization of RAre Soft Tissue Sarcoma - MIRAS Project From SARRA (SARcome RAre) Project of the French Sarcoma Group Recruiting NCT03967834
31 A Pilot Trial of Irinotecan, Temozolomide and Bevacizumab in Combination With Existing High Dose Alkylator Based Chemotherapy for Treatment of Newly Diagnosed Patients With Desmoplastic Small Round Cell Tumor Active, not recruiting NCT01189643 Early Phase 1 irinotecan, temozolomide, and bevacizumab incorporated into an existing schedule of high dose alkylator
32 A COG Soft Tissue Sarcoma Diagnosis, Biology and Banking Protocol Active, not recruiting NCT00919269

Search NIH Clinical Center for Desmoplastic Small Round Cell Tumor

Genetic Tests for Desmoplastic Small Round Cell Tumor

Anatomical Context for Desmoplastic Small Round Cell Tumor

MalaCards organs/tissues related to Desmoplastic Small Round Cell Tumor:

40
Liver, Myeloid, Spleen, Spinal Cord, Small Intestine, Pancreas, Lung

Publications for Desmoplastic Small Round Cell Tumor

Articles related to Desmoplastic Small Round Cell Tumor:

(show top 50) (show all 614)
# Title Authors PMID Year
1
Correspondence re: Kawano N, Inayama Y, Nagashima Y, Miyagi Y, Uemura H, Saitoh K, et al. Desmoplastic small round-cell tumor of the paratesticular region: report of an adult case with demonstration of EWS and WT1 gene fusion using paraffin-embedded tissue. Mod Pathol 1999;12:729-34. 54 61
10912946 2000
2
Desmoplastic small round-cell tumor of the paratesticular region: report of an adult case with demonstration of EWS and WT1 gene fusion using paraffin-embedded tissue. 54 61
10430278 1999
3
Expression of WT1 in pediatric small cell tumors: report of two cases with a possible mesothelial origin. 61 54
9841704 1999
4
Intra-abdominal desmoplastic small round-cell tumor: expansion of the pathologic profile. 61 54
8782211 1996
5
Nuclear expression of DDIT3 distinguishes high-grade myxoid liposarcoma from other round cell sarcomas. 61
33731886 2021
6
INSM1 Expression in Angiosarcoma. 61
33210141 2021
7
Desmoplastic Small Round Cell Tumor With Ascending Intraspinal Metastasis at Recurrence: Case Report and Review of the Literature. 61
33710117 2021
8
Comprehensive Molecular Profiling of Desmoplastic Small Round Cell Tumor. 61
33753552 2021
9
Desmoplastic Small Round Cell Tumor with "Pure" Spindle Cell Morphology and Novel EWS-WT1 Fusion Transcript: Expanding the Morphological and Molecular Spectrum of This Rare Entity. 61
33803887 2021
10
Multiagent chemotherapy including IrIVA regimen and maintenance therapy in the treatment of desmoplastic small round cell tumor. 61
33594944 2021
11
Therapeutic Potential of NTRK3 Inhibition in Desmoplastic Small Round Cell Tumor. 61
33229458 2021
12
Desmoplastic Small Round Cell Tumors: A review with focus on clinical management and therapeutic options. 61
33388539 2021
13
Intra-abdominal desmoplastic small round cell tumour in a 56-year-old female: Case report of a very rare presentation of an unusual tumour. 61
33497999 2021
14
Hyperthermic intraperitoneal chemotherapy (HIPEC) as another treatment modality for desmoplastic round cell tumour patients: first paediatric experience from UK. 61
33509853 2021
15
Desmoplastic small round cell tumor of the ovary: A rare but poor prognostic disease in a young woman! 61
33433447 2021
16
The Role and Clinical Effectiveness of Multiline Chemotherapy in Advanced Desmoplastic Small Round Cell Tumor. 61
33642889 2021
17
Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy. 61
33525546 2021
18
The spectrum of rare central nervous system (CNS) tumors with EWSR1-non-ETS fusions: experience from three pediatric institutions with review of the literature. 61
32997853 2021
19
FISH for EWSR1 in Ewing's sarcoma family of tumors: Experience from a tertiary care cancer center. 61
33433416 2021
20
Influence of UGT1A1 *6/*28 Polymorphisms on Irinotecan-Related Toxicity and Survival in Pediatric Patients with Relapsed/Refractory Solid Tumors Treated with the VIT Regimen. 61
33790625 2021
21
B7H3-Directed Intraperitoneal Radioimmunotherapy With Radioiodinated Omburtamab for Desmoplastic Small Round Cell Tumor and Other Peritoneal Tumors: Results of a Phase I Study. 61
33119478 2020
22
Pediatric sarcomas display a variable EpCAM expression in a histology-dependent manner. 61
32805674 2020
23
Desmoplastic Small Round Cell Tumor of the Kidney: Report of a Case, Literature Review, and Comprehensive Discussion of the Distinctive Morphologic, Immunohistochemical, and Molecular Features in the Differential Diagnosis of Small Round Cell Tumors Affecting the Kidney. 61
32804706 2020
24
Mediastinal desmoplastic small round cell tumor. 61
33126354 2020
25
The use of interval-compressed chemotherapy with the addition of vincristine, irinotecan, and temozolomide for pediatric patients with newly diagnosed desmoplastic small round cell tumor. 61
32686305 2020
26
Desmoplastic Small Round Cell Tumor of Parotid Gland: A Rare Entity With Diagnostic Challenge. 61
32241209 2020
27
Desmoplastic small round cell tumor showing solid proliferation with limited desmoplasia and confusing immunohistochemical findings: an autopsy report. 61
31907620 2020
28
Small Round Blue Cell Sarcoma Other Than Ewing Sarcoma: What Should an Oncologist Know? 61
32875423 2020
29
Chemotherapy combined with apatinib for the treatment of desmoplastic small round cell tumors: A case report. 61
33004767 2020
30
[Ultrasonic Manifestations of Desmoplastic Small Round Cell Tumor with Multiple Metastases: Case Report]. 61
32975093 2020
31
A comprehensive diagnosis of a desmoplastic small round cell tumor of unusual location based on fine-needle aspiration cytology: Report of a case arising in the parotid gland and review of the literature. 61
32657547 2020
32
Subcutaneous desmoplastic small round-cell tumor: An unusual primary location expanding the differential of superficial round-cell tumors. 61
32249945 2020
33
Desmoplastic Small Round Cell Tumor: A Rare Location in the Parotid Gland. 61
32999788 2020
34
Sclerosing Encapsulating Peritonitis in a Pediatric Patient Treated With Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy. 61
32769559 2020
35
Transcriptome analysis of desmoplastic small round cell tumors identifies actionable therapeutic targets: a report from the Children's Oncology Group. 61
32703985 2020
36
Olaparib and temozolomide in desmoplastic small round cell tumors: a promising combination in vitro and in vivo. 61
32279088 2020
37
A nationwide analysis of desmoplastic small round cell tumor. 61
32791732 2020
38
Desmoplastic Small Round Cell Tumor of Pancreatic Origin in a Young Child: A Case Report and Review of Literature. 61
32655125 2020
39
Desmoplastic small round cell tumor of the kidney: a case report. 61
32703229 2020
40
The Chicago Consensus on peritoneal surface malignancies: Management of desmoplastic small round cell tumor, breast, and gastrointestinal stromal tumors. 61
32282072 2020
41
Multimodal Therapy Including Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy Can Result in Long-term Disease-free Survival in Pediatric Desmoplastic Small Round Cell Tumor With Extraperitoneal Disease. 61
32555030 2020
42
The Chicago Consensus on Peritoneal Surface Malignancies: Management of Desmoplastic Small Round Cell Tumor, Breast, and Gastrointestinal Stromal Tumors. 61
32285268 2020
43
Diagnostic yield of NanoString nCounter FusionPlex profiling in soft tissue tumors. 61
31965673 2020
44
A renal cell carcinoma with EWSR1-TFE3 fusion gene. 61
31774608 2020
45
Desmoplastic Small Round Cell Tumor of the Ovary: A Case Report with a New Modality of Treatment and Review of the Literature. 61
32483810 2020
46
Recurrent secondary genomic alterations in desmoplastic small round cell tumors. 61
32393201 2020
47
Desmoplastic small round cell tumor is dependent on the EWS-WT1 transcription factor. 61
32345977 2020
48
Desmoplastic small round cell tumor (DSRCT): emerging therapeutic targets and future directions for potential therapies. 61
32125905 2020
49
A case of submandibular desmoplastic small round cell tumor: Diagnostic and management approaches to an atypical presentation of a rare tumor. 61
31925924 2020
50
A novel image-based system for risk stratification in patients with desmoplastic small round cell tumor. 61
29605262 2020

Variations for Desmoplastic Small Round Cell Tumor

ClinVar genetic disease variations for Desmoplastic Small Round Cell Tumor:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNFRSF17 , NPIPB2 NM_001192.3(TNFRSF17):c.524C>T (p.Thr175Met) SNV other 438792 rs371163866 GRCh37: 16:12061673-12061673
GRCh38: 16:11967816-11967816

Cosmic variations for Desmoplastic Small Round Cell Tumor:

9 (show top 50) (show all 174)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM122902725 TP53 soft tissue,ovary,sarcoma,NS c.524-2A>C p.? 17:7673610-7673610 3
2 COSM122283235 TP53 soft tissue,bladder,sarcoma,NS c.460G>T p.E154* 17:7673764-7673764 3
3 COSM111758855 TP53 soft tissue,ovary,sarcoma,NS c.821T>A p.V274D 17:7673799-7673799 3
4 COSM87903333 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 3
5 COSM143530848 TP53 soft tissue,ovary,sarcoma,NS c.803-2A>C p.? 17:7673610-7673610 3
6 COSM93195231 TP53 soft tissue,bladder,sarcoma,NS c.856G>T p.E286* 17:7673764-7673764 3
7 COSM87898696 TP53 soft tissue,ovary,sarcoma,NS c.821T>A p.V274D 17:7673799-7673799 3
8 COSM112319175 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 3
9 COSM105620628 TP53 soft tissue,ovary,sarcoma,NS c.782+382T>A p.? 17:7673799-7673799 3
10 COSM111919137 TP53 soft tissue,ovary,sarcoma,NS c.920-2A>C p.? 17:7673610-7673610 3
11 COSM145022367 TP53 soft tissue,liver,sarcoma,NS c.529G>A p.V177M 17:7674885-7674885 3
12 COSM121889179 TP53 soft tissue,bladder,sarcoma,NS c.460G>T p.E154* 17:7673764-7673764 3
13 COSM142837541 TP53 soft tissue,ovary,sarcoma,NS c.821T>A p.V274D 17:7673799-7673799 3
14 COSM143297921 TP53 soft tissue,ovary,sarcoma,NS c.443-2A>C p.? 17:7673610-7673610 3
15 COSM112420716 TP53 soft tissue,ovary,sarcoma,NS c.920-2A>C p.? 17:7673610-7673610 3
16 COSM93250304 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 3
17 COSM111826264 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 3
18 COSM112257487 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 3
19 COSM122744986 TP53 soft tissue,bladder,sarcoma,NS c.460G>T p.E154* 17:7673764-7673764 3
20 COSM87911884 TP53 soft tissue,bladder,sarcoma,NS c.856G>T p.E286* 17:7673764-7673764 3
21 COSM142840682 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 3
22 COSM93183958 TP53 soft tissue,ovary,sarcoma,NS c.821T>A p.V274D 17:7673799-7673799 3
23 COSM106216644 TP53 soft tissue,ovary,sarcoma,NS c.920-2A>C p.? 17:7673610-7673610 3
24 COSM106064727 TP53 soft tissue,bladder,sarcoma,NS c.856G>T p.E286* 17:7673764-7673764 3
25 COSM144718997 TP53 soft tissue,liver,sarcoma,NS c.242A>T p.K81M 17:7676010-7676010 3
26 COSM105632242 TP53 soft tissue,bladder,sarcoma,NS c.782+417G>T p.? 17:7673764-7673764 3
27 COSM122271807 TP53 soft tissue,ovary,sarcoma,NS c.425T>A p.V142D 17:7673799-7673799 3
28 COSM144664239 TP53 soft tissue,bladder,sarcoma,NS c.739G>T p.E247* 17:7673764-7673764 3
29 COSM144313969 TP53 soft tissue,liver,sarcoma,NS c.529G>A p.V177M 17:7674885-7674885 3
30 COSM111763428 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 3
31 COSM142725897 TP53 soft tissue,ovary,sarcoma,NS c.803-2A>C p.? 17:7673610-7673610 3
32 COSM144159288 TP53 soft tissue,ovary,sarcoma,NS c.887-2A>C p.? 17:7673610-7673610 3
33 COSM144319402 TP53 soft tissue,bladder,sarcoma,NS c.739G>T p.E247* 17:7673764-7673764 3
34 COSM121876438 TP53 soft tissue,ovary,sarcoma,NS c.425T>A p.V142D 17:7673799-7673799 3
35 COSM143944118 TP53 soft tissue,ovary,sarcoma,NS c.344T>A p.V115D 17:7673799-7673799 3
36 COSM112264794 TP53 soft tissue,bladder,sarcoma,NS c.856G>T p.E286* 17:7673764-7673764 3
37 COSM142892050 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 3
38 COSM142978501 TP53 soft tissue,ovary,sarcoma,NS c.920-2A>C p.? 17:7673610-7673610 3
39 COSM105805513 TP53 soft tissue,ovary,sarcoma,NS c.782+571A>C p.? 17:7673610-7673610 3
40 COSM143157008 TP53 soft tissue,ovary,sarcoma,NS c.344T>A p.V115D 17:7673799-7673799 3
41 COSM145029071 TP53 soft tissue,bladder,sarcoma,NS c.739G>T p.E247* 17:7673764-7673764 3
42 COSM144090750 TP53 soft tissue,ovary,sarcoma,NS c.443-2A>C p.? 17:7673610-7673610 3
43 COSM144024184 TP53 soft tissue,bladder,sarcoma,NS c.823G>T p.E275* 17:7673764-7673764 3
44 COSM144087263 TP53 soft tissue,ovary,sarcoma,NS c.344T>A p.V115D 17:7673799-7673799 3
45 COSM105695818 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 3
46 COSM143947706 TP53 soft tissue,liver,sarcoma,NS c.169G>A p.V57M 17:7674885-7674885 3
47 COSM143166453 TP53 soft tissue,bladder,sarcoma,NS c.379G>T p.E127* 17:7673764-7673764 3
48 COSM87975568 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 3
49 COSM144828607 TP53 soft tissue,ovary,sarcoma,NS c.803-2A>C p.? 17:7673610-7673610 3
50 COSM144090111 TP53 soft tissue,liver,sarcoma,NS c.169G>A p.V57M 17:7674885-7674885 3

Copy number variations for Desmoplastic Small Round Cell Tumor from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 163402 22 27994016 28026515 Translate EWSR1 Desmoplastic small round cell tumor

Expression for Desmoplastic Small Round Cell Tumor

Search GEO for disease gene expression data for Desmoplastic Small Round Cell Tumor.

Pathways for Desmoplastic Small Round Cell Tumor

Pathways related to Desmoplastic Small Round Cell Tumor according to KEGG:

36
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

Pathways related to Desmoplastic Small Round Cell Tumor according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.54 WT1 TSPAN7 FLI1 EWSR1
2 11.19 VIM DES ACTC1
3 11 PTPRC MYOG MYOD1 DES ALPP

GO Terms for Desmoplastic Small Round Cell Tumor

Biological processes related to Desmoplastic Small Round Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myotube differentiation GO:0014902 9.26 MYOG MYOD1
2 positive regulation of skeletal muscle fiber development GO:0048743 9.16 MYOG MYOD1
3 muscle cell fate commitment GO:0042693 8.96 MYOG MYOD1
4 muscle filament sliding GO:0030049 8.8 VIM DES ACTC1

Sources for Desmoplastic Small Round Cell 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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