Details of Disease

General Information of Disease (ID: DISGX357)

• Disease Name: Desmoid tumour
• Synonyms: familial infiltrative fibromatosis; desmoid disorder, hereditary; desmoid disease, hereditary; FIF; fibromatosis, familial infiltrative; desmoid/aggressive fibromatosis; desmoid fibromatosis; aggressive fibromatosis; desmoid-type fibromatosis; deep fibromatosis/desmoid tumour; deep fibromatosis; desmoid tumor; deep fibromatosis/desmoid tumor; desmoid type fibromatosis
• Disease Class: 2F7C: Desmoid tumour
• Definition: A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.
• Disease Hierarchy:
  DISP2OHE: Soft tissue neoplasm
  DIS8I9FS: Hereditary disorder of connective tissue
  DIS7535C: Fibromatosis
  DISGX357: Desmoid tumour
• ICD Code: ICD-11: ICD-11: 2F7C
• Disease Identifiers:
  MONDO ID: MONDO_0007608
  MESH ID: D018222
  UMLS CUI: C0079218
  MedGen ID: 38187
  HPO ID: HP:0100245
  Orphanet ID: 873
  SNOMED CT ID: 47284001

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Hydroxyurea	DMOQVU9	Approved	Small molecular drug	[1]
Nirogacestat	DMUP5Z0	Approved	Small molecular drug	[2]

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AL102	DMCTWIB	Phase 2	Small molecular drug	[3]
Tegavivint	DMPJ3YX	Phase 1	Small molecule	[4]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TCF3	TTULOD8	Limited	Biomarker	[5]
EPHB3	TT5LM7U	Strong	Altered Expression	[6]
EYA2	TTUY9C6	Strong	Altered Expression	[6]
FAP	TTGPQ0F	Strong	Genetic Variation	[7]
LYN	TT1RWNJ	Strong	Altered Expression	[6]

This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCN4	OT69BER9	Limited	Altered Expression	[8]
INTS13	OTWE6180	Limited	Biomarker	[9]
MCM5	OTAHLB62	Limited	Altered Expression	[10]
BAMBI	OTCEJ8W5	Strong	Altered Expression	[11]
CTNNA1	OTFC725Z	Strong	Genetic Variation	[12]
CTNNA3	OT9Z0P1E	Strong	Genetic Variation	[12]
CTNNBIP1	OTX9SBJG	Strong	Genetic Variation	[13]
GNAZ	OTLTDTR8	Strong	Altered Expression	[6]
OAS1	OT8ZLOCY	Strong	Altered Expression	[6]
PTPRF	OTH5KF2D	Strong	Altered Expression	[6]
REEP5	OTZU4TJI	Strong	Genetic Variation	[14]
SAMD9	OTDG48P0	Strong	Altered Expression	[15]
TCF20	OT8LQAOV	Strong	Altered Expression	[6]
TCF7L1	OTTUTF0O	Strong	Altered Expression	[16]
TFE3	OTM99ZWH	Strong	Biomarker	[17]
APC	OTKV0TIK	Definitive	Autosomal dominant	[18]

References

• [1] Hydroxyurea FDA Label
• [2] FDA Approved Drug Products from FDA Official Website. 2023. Application Number: 217677
• [3] ClinicalTrials.gov (NCT04871282) A Study of AL102 in Patients With Progressing Desmoid Tumors (RINGSIDE). U.S. National Institutes of Health.
• [4] ClinicalTrials.gov (NCT03459469) Phase 1 Trial of BC2059 (Tegavivint) in Patients With Unresectable Desmoid Tumor. U.S.National Institutes of Health.
• [5] Upregulation of Wilms' tumor gene 1 (WT1) in desmoid tumors.Int J Cancer. 2005 Mar 20;114(2):202-8. doi: 10.1002/ijc.20717.
• [6] A gene expression signature that distinguishes desmoid tumours from nodular fasciitis.J Pathol. 2006 Mar;208(4):543-53. doi: 10.1002/path.1915.
• [7] Desmoid fibromatosis of the esophagogastric junction.Rev Esp Enferm Dig. 2018 Oct;110(10):677-678. doi: 10.17235/reed.2018.5630/2018.
• [8] Expression of FAP, ADAM12, WISP1, and SOX11 is heterogeneous in aggressive fibromatosis and spatially relates to the histologic features of tumor activity.Cancer Med. 2014 Feb;3(1):81-90. doi: 10.1002/cam4.160. Epub 2013 Nov 26.
• [9] Management and outcomes of ruptured, perforated or fistulized tumors of mesenchymal origin.J Surg Oncol. 2020 Mar;121(3):474-479. doi: 10.1002/jso.25807. Epub 2019 Dec 17.
• [10] Minichromosome maintenance (MCM) and AgNOR proteins expression in desmoid tumours: a tissue microarray analysis.Folia Histochem Cytobiol. 2010 Dec;48(4):581-8. doi: 10.2478/v10042-010-0087-y.
• [11] Desmoid tumor with ossification in chest wall: possible involvement of BAMBI promoter hypermethylation in metaplastic bone formation.J Bone Miner Res. 2005 Aug;20(8):1472-7. doi: 10.1359/jbmr.2005.20.8.1472. Epub 2005 Mar 21.
• [12] CTNNB1 45F mutation is a molecular prognosticator of increased postoperative primary desmoid tumor recurrence: an independent, multicenter validation study.Cancer. 2013 Oct 15;119(20):3696-702. doi: 10.1002/cncr.28271. Epub 2013 Jul 31.
• [13] Correlation between beta-catenin widespread nuclear expression and matrix metalloproteinase-7 overexpression in sporadic desmoid tumors.Hum Pathol. 2008 Dec;39(12):1802-8. doi: 10.1016/j.humpath.2008.05.005. Epub 2008 Aug 19.
• [14] Genetic testing for germline mutations of the APC gene in patients with apparently sporadic desmoid tumors but a family history of colorectal carcinoma.Dis Colon Rectum. 2005 Jun;48(6):1275-81. doi: 10.1007/s10350-004-0949-5.
• [15] Overexpression of SAMD9 suppresses tumorigenesis and progression during non small cell lung cancer.Biochem Biophys Res Commun. 2014 Nov 7;454(1):157-61. doi: 10.1016/j.bbrc.2014.10.054. Epub 2014 Oct 17.
• [16] Tcf-3 expression and beta-catenin mediated transcriptional activation in aggressive fibromatosis (desmoid tumour).Br J Cancer. 2001 Jul 6;85(1):98-101. doi: 10.1054/bjoc.2001.1857.
• [17] Nuclear TFE3 expression is a diagnostic marker for Desmoid-type fibromatosis.Diagn Pathol. 2019 May 1;14(1):34. doi: 10.1186/s13000-019-0814-4.
• [18] Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet. 1996 Dec;59(6):1193-201.