Details of Disease

General Information of Disease (ID: DISD4VQC)

• Disease Name: Ewing sarcoma/peripheral primitive neuroectodermal tumor
• Synonyms: Ewing's family of tumours; Ewing family of tumours; Ewing's sarcoma/peripheral primitive neuroectodermal tumour; Ewing family of tumors; Ewing sarcoma family of tumors; tumours of Ewing's family; Ewing sarcoma/peripheral PNET; Ewing's family of tumors; tumors of the Ewing's family; Ewing sarcoma family of tumours; tumours of the Ewing's family; EFTs; tumors of Ewing's family; Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewing sarcoma/peripheral primitive neuroectodermal tumor
• Definition: A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.
• Disease Hierarchy:
  DIS5MQSB: Embryonal neoplasm
  DISD4VQC: Ewing sarcoma/peripheral primitive neuroectodermal tumor
• Disease Identifiers:
  MONDO ID: MONDO_0021038
  UMLS CUI: C3536893
  MedGen ID: 760735

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NR0B1	TTTK36V	moderate	Altered Expression	[1]
KCNN2	TT2T5M0	Strong	Biomarker	[1]
PDGFC	TTOABM9	Strong	Biomarker	[2]
VIPR2	TT4O5P0	Strong	Altered Expression	[3]

This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ERG	OTOTX9VU	Limited	Biomarker	[4]
FLI1	OT0EV3LX	Disputed	Biomarker	[5]
CIC	OTFXCHNZ	moderate	Biomarker	[6]
ENO2	OTRODL0T	moderate	Altered Expression	[7]
CD99	OTPUZ5DE	Strong	Biomarker	[5]
DHX9	OT5AAOQI	Strong	Biomarker	[8]
DLEU7	OTVKX1YP	Strong	Biomarker	[9]
ECRG4	OTHZYUXX	Strong	Biomarker	[1]
EWSR1	OT7SRHV3	Strong	Biomarker	[10]
FEV	OTYEC4IR	Strong	Genetic Variation	[10]
FLII	OT7G9JG6	Strong	Biomarker	[5]
KCMF1	OTVTKFAU	Strong	Biomarker	[11]
LDOC1	OTWZH4O9	Strong	Biomarker	[1]
LIPI	OTSO833D	Strong	Biomarker	[12]
NPL	OTA7P0TO	Strong	Genetic Variation	[13]
NUTM1	OTONYC08	Strong	Biomarker	[14]
SLFN11	OTJWFPMY	Strong	Altered Expression	[13]
STAG2	OTR6X1Q7	Strong	Genetic Variation	[15]

References

• [1] Potential downstream target genes of aberrant ETS transcription factors are differentially affected in Ewing's sarcoma and prostate carcinoma.PLoS One. 2012;7(11):e49819. doi: 10.1371/journal.pone.0049819. Epub 2012 Nov 19.
• [2] Beta-platelet-derived growth factor receptor mediates motility and growth of Ewing's sarcoma cells.Oncogene. 2003 Apr 17;22(15):2334-42. doi: 10.1038/sj.onc.1206330.
• [3] Vasoactive intestinal peptide (VIP) and VIP receptors: gene expression and growth modulation in medulloblastoma and other central primitive neuroectodermal tumors of childhood.Int J Cancer. 1999 Apr 12;81(2):165-73. doi: 10.1002/(sici)1097-0215(19990412)81:2<165::aid-ijc1>3.0.co;2-0.
• [4] Clinicopathological and molecular spectrum of ewing sarcomas/PNETs, including validation of EWSR1 rearrangement by conventional and array FISH technique in certain cases.Pathol Oncol Res. 2014 Jul;20(3):503-16. doi: 10.1007/s12253-013-9721-2. Epub 2013 Nov 30.
• [5] Primitive Neuroectodermal Tumors of the Female Genital Tract: A Morphologic, Immunohistochemical, and Molecular Study of 19 Cases.Am J Surg Pathol. 2017 Jun;41(6):761-772. doi: 10.1097/PAS.0000000000000831.
• [6] Immunohistochemical analysis of NKX2.2, ETV4, and BCOR in a large series of genetically confirmed Ewing sarcoma family of tumors.Pathol Res Pract. 2017 Sep;213(9):1048-1053. doi: 10.1016/j.prp.2017.08.002. Epub 2017 Aug 25.
• [7] Pro-gastrin-releasing peptide as a marker for the Ewing sarcoma family of tumors.Int J Clin Oncol. 2019 Nov;24(11):1468-1478. doi: 10.1007/s10147-019-01492-0. Epub 2019 Jul 1.
• [8] Oncoprotein EWS-FLI1 activity is enhanced by RNA helicase A.Cancer Res. 2006 Jun 1;66(11):5574-81. doi: 10.1158/0008-5472.CAN-05-3293.
• [9] Relation of neurological marker expression and EWS gene fusion types in MIC2/CD99-positive tumors of the Ewing family.Hum Pathol. 1999 Sep;30(9):1058-64. doi: 10.1016/s0046-8177(99)90223-x.
• [10] Prostatic carcinoma with neuroendocrine differentiation harboring the EWSR1-FEV fusion transcript in a man with the WRN G327X germline mutation: A new variant of prostatic carcinoma or a member of the Ewing sarcoma family of tumors?.Pathol Res Pract. 2020 Feb;216(2):152758. doi: 10.1016/j.prp.2019.152758. Epub 2019 Nov 22.
• [11] Suppression of KCMF1 by constitutive high CD99 expression is involved in the migratory ability of Ewing's sarcoma cells.Oncogene. 2006 May 4;25(19):2795-800. doi: 10.1038/sj.onc.1209300.
• [12] Characterization of Ewing sarcoma associated cancer/testis antigens.Cancer Biol Ther. 2013 Mar;14(3):254-61. doi: 10.4161/cbt.23298. Epub 2013 Jan 4.
• [13] Activity of MM-398, nanoliposomal irinotecan (nal-IRI), in Ewing's family tumor xenografts is associated with high exposure of tumor to drug and high SLFN11 expression.Clin Cancer Res. 2015 Mar 1;21(5):1139-50. doi: 10.1158/1078-0432.CCR-14-1882.
• [14] NUT carcinoma of the nasal cavity that responded to a chemotherapy regimen for Ewing's sarcoma family of tumors: a case report.BMC Cancer. 2018 Nov 19;18(1):1134. doi: 10.1186/s12885-018-5087-x.
• [15] The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation.PLoS Genet. 2014 Jul 10;10(7):e1004475. doi: 10.1371/journal.pgen.1004475. eCollection 2014 Jul.