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Desmoid tumor caused by somatic mutation

MedGen UID:
436434
•Concept ID:
C2675440
•
Disease or Syndrome
Synonym: Desmoid tumor, somatic
 
Monarch Initiative: MONDO:0100168
OMIM®: 135290

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Dispelling misconceptions in the management of familial adenomatous polyposis.
Chittleborough TJ, Warrier SK, Heriot AG, Kalady M, Church J
ANZ J Surg 2017 Jun;87(6):441-445. Epub 2017 Mar 7 doi: 10.1111/ans.13919. PMID: 28266097
Isolated limb perfusion as a treatment option for rare types of tumours.
Belgrano V, Ben-Shabat I, Bergh P, Olofsson Bagge R
Int J Hyperthermia 2016 Sep;32(6):595-9. Epub 2016 Jun 7 doi: 10.1080/02656736.2016.1188999. PMID: 27269515
Desmoids and genotype in familial adenomatous polyposis.
Church J, Xhaja X, LaGuardia L, O'Malley M, Burke C, Kalady M
Dis Colon Rectum 2015 Apr;58(4):444-8. doi: 10.1097/DCR.0000000000000316. PMID: 25751801

Recent clinical studies

Etiology

Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations.
Bademci R, Bollo J, Ramón Y Cajal T, Martínez MC, Hernández MP, Targarona EM
Cir Esp (Engl Ed) 2020 Oct;98(8):465-471. Epub 2020 Jun 3 doi: 10.1016/j.ciresp.2020.04.033. PMID: 32505560
Novel intra-genic large deletions of CTNNB1 gene identified in WT desmoid-type fibromatosis.
Colombo C, Urbini M, Astolfi A, Collini P, Indio V, Belfiore A, Paielli N, Perrone F, Tarantino G, Palassini E, Fiore M, Pession A, Stacchiotti S, Pantaleo MA, Gronchi A
Genes Chromosomes Cancer 2018 Oct;57(10):495-503. Epub 2018 Aug 20 doi: 10.1002/gcc.22644. PMID: 29901254
Dispelling misconceptions in the management of familial adenomatous polyposis.
Chittleborough TJ, Warrier SK, Heriot AG, Kalady M, Church J
ANZ J Surg 2017 Jun;87(6):441-445. Epub 2017 Mar 7 doi: 10.1111/ans.13919. PMID: 28266097
Desmoids and genotype in familial adenomatous polyposis.
Church J, Xhaja X, LaGuardia L, O'Malley M, Burke C, Kalady M
Dis Colon Rectum 2015 Apr;58(4):444-8. doi: 10.1097/DCR.0000000000000316. PMID: 25751801
Is wide resection obsolete for desmoid tumors in children and adolescents? Evaluation of histological margins, immunohistochemical markers, and review of literature.
Woltsche N, Gilg MM, Fraissler L, Liegl-Atzwanger B, Beham A, Lackner H, Benesch M, Leithner A
Pediatr Hematol Oncol 2015 Feb;32(1):60-9. Epub 2014 Sep 29 doi: 10.3109/08880018.2014.956905. PMID: 25264623

Diagnosis

Desmoid Tumor and Multiple Colon Adenomas.
Erickson LA, Chen B
Mayo Clin Proc 2022 Jan;97(1):193-195. doi: 10.1016/j.mayocp.2021.11.025. PMID: 34996557
Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations.
Bademci R, Bollo J, Ramón Y Cajal T, Martínez MC, Hernández MP, Targarona EM
Cir Esp (Engl Ed) 2020 Oct;98(8):465-471. Epub 2020 Jun 3 doi: 10.1016/j.ciresp.2020.04.033. PMID: 32505560
Human microRNA expression in sporadic and FAP-associated desmoid tumors and correlation with beta-catenin mutations.
Cavallini A, Rotelli MT, Lippolis C, Piscitelli D, Digennaro R, Covelli C, Carella N, Accetturo M, Altomare DF
Oncotarget 2017 Jun 27;8(26):41866-41875. doi: 10.18632/oncotarget.16383. PMID: 28418912Free PMC Article
Dispelling misconceptions in the management of familial adenomatous polyposis.
Chittleborough TJ, Warrier SK, Heriot AG, Kalady M, Church J
ANZ J Surg 2017 Jun;87(6):441-445. Epub 2017 Mar 7 doi: 10.1111/ans.13919. PMID: 28266097
Is wide resection obsolete for desmoid tumors in children and adolescents? Evaluation of histological margins, immunohistochemical markers, and review of literature.
Woltsche N, Gilg MM, Fraissler L, Liegl-Atzwanger B, Beham A, Lackner H, Benesch M, Leithner A
Pediatr Hematol Oncol 2015 Feb;32(1):60-9. Epub 2014 Sep 29 doi: 10.3109/08880018.2014.956905. PMID: 25264623

Therapy

Fertility preservation and PGT-M in women with familial adenomatous polyposis-associated desmoid tumours.
Fouks Y, Sheiman V, Goaz S, Malcov M, Hasson Y, Azem F
Reprod Biomed Online 2021 Oct;43(4):637-644. Epub 2021 Jul 22 doi: 10.1016/j.rbmo.2021.07.010. PMID: 34429254
Dispelling misconceptions in the management of familial adenomatous polyposis.
Chittleborough TJ, Warrier SK, Heriot AG, Kalady M, Church J
ANZ J Surg 2017 Jun;87(6):441-445. Epub 2017 Mar 7 doi: 10.1111/ans.13919. PMID: 28266097
Long-term outcome of sporadic and FAP-associated desmoid tumors treated with high-dose selective estrogen receptor modulators and sulindac: a single-center long-term observational study in 134 patients.
Quast DR, Schneider R, Burdzik E, Hoppe S, Möslein G
Fam Cancer 2016 Jan;15(1):31-40. doi: 10.1007/s10689-015-9830-z. PMID: 26275868
Gene Expression Profiling of Desmoid Tumors by cDNA Microarrays and Correlation with Progression-Free Survival.
Salas S, Brulard C, Terrier P, Ranchere-Vince D, Neuville A, Guillou L, Lae M, Leroux A, Verola O, Jean-Emmanuel K, Bonvalot S, Blay JY, Le Cesne A, Aurias A, Coindre JM, Chibon F
Clin Cancer Res 2015 Sep 15;21(18):4194-200. Epub 2015 Apr 15 doi: 10.1158/1078-0432.CCR-14-2910. PMID: 25878329
Small bowel obstruction in patients with familial adenomatous polyposis related desmoid disease.
Xhaja X, Church J
Colorectal Dis 2013 Dec;15(12):1489-92. doi: 10.1111/codi.12416. PMID: 24020802

Prognosis

Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations.
Bademci R, Bollo J, Ramón Y Cajal T, Martínez MC, Hernández MP, Targarona EM
Cir Esp (Engl Ed) 2020 Oct;98(8):465-471. Epub 2020 Jun 3 doi: 10.1016/j.ciresp.2020.04.033. PMID: 32505560
Novel intra-genic large deletions of CTNNB1 gene identified in WT desmoid-type fibromatosis.
Colombo C, Urbini M, Astolfi A, Collini P, Indio V, Belfiore A, Paielli N, Perrone F, Tarantino G, Palassini E, Fiore M, Pession A, Stacchiotti S, Pantaleo MA, Gronchi A
Genes Chromosomes Cancer 2018 Oct;57(10):495-503. Epub 2018 Aug 20 doi: 10.1002/gcc.22644. PMID: 29901254
Gene Expression Profiling of Desmoid Tumors by cDNA Microarrays and Correlation with Progression-Free Survival.
Salas S, Brulard C, Terrier P, Ranchere-Vince D, Neuville A, Guillou L, Lae M, Leroux A, Verola O, Jean-Emmanuel K, Bonvalot S, Blay JY, Le Cesne A, Aurias A, Coindre JM, Chibon F
Clin Cancer Res 2015 Sep 15;21(18):4194-200. Epub 2015 Apr 15 doi: 10.1158/1078-0432.CCR-14-2910. PMID: 25878329
Desmoids and genotype in familial adenomatous polyposis.
Church J, Xhaja X, LaGuardia L, O'Malley M, Burke C, Kalady M
Dis Colon Rectum 2015 Apr;58(4):444-8. doi: 10.1097/DCR.0000000000000316. PMID: 25751801
Is wide resection obsolete for desmoid tumors in children and adolescents? Evaluation of histological margins, immunohistochemical markers, and review of literature.
Woltsche N, Gilg MM, Fraissler L, Liegl-Atzwanger B, Beham A, Lackner H, Benesch M, Leithner A
Pediatr Hematol Oncol 2015 Feb;32(1):60-9. Epub 2014 Sep 29 doi: 10.3109/08880018.2014.956905. PMID: 25264623

Clinical prediction guides

Clinical application of next-generation sequencing for the management of desmoid tumors: A case report and literature review.
Lee JM, Kim HG, Shin SY, Lee SH
Medicine (Baltimore) 2021 Jan 8;100(1):e24238. doi: 10.1097/MD.0000000000024238. PMID: 33429825Free PMC Article
Novel intra-genic large deletions of CTNNB1 gene identified in WT desmoid-type fibromatosis.
Colombo C, Urbini M, Astolfi A, Collini P, Indio V, Belfiore A, Paielli N, Perrone F, Tarantino G, Palassini E, Fiore M, Pession A, Stacchiotti S, Pantaleo MA, Gronchi A
Genes Chromosomes Cancer 2018 Oct;57(10):495-503. Epub 2018 Aug 20 doi: 10.1002/gcc.22644. PMID: 29901254
Gene Expression Profiling of Desmoid Tumors by cDNA Microarrays and Correlation with Progression-Free Survival.
Salas S, Brulard C, Terrier P, Ranchere-Vince D, Neuville A, Guillou L, Lae M, Leroux A, Verola O, Jean-Emmanuel K, Bonvalot S, Blay JY, Le Cesne A, Aurias A, Coindre JM, Chibon F
Clin Cancer Res 2015 Sep 15;21(18):4194-200. Epub 2015 Apr 15 doi: 10.1158/1078-0432.CCR-14-2910. PMID: 25878329
Desmoids and genotype in familial adenomatous polyposis.
Church J, Xhaja X, LaGuardia L, O'Malley M, Burke C, Kalady M
Dis Colon Rectum 2015 Apr;58(4):444-8. doi: 10.1097/DCR.0000000000000316. PMID: 25751801
Is wide resection obsolete for desmoid tumors in children and adolescents? Evaluation of histological margins, immunohistochemical markers, and review of literature.
Woltsche N, Gilg MM, Fraissler L, Liegl-Atzwanger B, Beham A, Lackner H, Benesch M, Leithner A
Pediatr Hematol Oncol 2015 Feb;32(1):60-9. Epub 2014 Sep 29 doi: 10.3109/08880018.2014.956905. PMID: 25264623

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