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Desmoid tumor

MedGen UID:
38187
Concept ID:
C0079218
Neoplastic Process
Synonyms: Aggressive fibromatosis; Desmoid tumors
SNOMED CT: Desmoid-type fibromatosis (47284001); Desmoid tumor (47284001); Aggressive fibromatosis (725049005); Desmoid type fibromatosis (725049005); Desmoid tumor (725049005); Desmoid fibromatosis (725049005); Deep fibromatosis (725049005); Aggressive fibromatosis (47284001); Invasive fibroma (47284001); Desmoid (47284001)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related gene: APC
 
HPO: HP:0100245
Monarch Initiative: MONDO:0007608
Orphanet: ORPHA873

Definition

Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine. [from HPO]

Conditions with this feature

Desmoid disease, hereditary
MedGen UID:
338210
Concept ID:
C1851124
Disease or Syndrome
APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.
Familial adenomatous polyposis 1
MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.

Professional guidelines

PubMed

Spolverato G, Capelli G, Kasper B, Gounder M
Surg Oncol Clin N Am 2022 Jul;31(3):447-458. Epub 2022 May 31 doi: 10.1016/j.soc.2022.03.008. PMID: 35715144
Riedel RF, Agulnik M
Cancer 2022 Aug 15;128(16):3027-3040. Epub 2022 Jun 7 doi: 10.1002/cncr.34332. PMID: 35670122Free PMC Article
Desmoid Tumor Working Group
Eur J Cancer 2020 Mar;127:96-107. Epub 2020 Jan 28 doi: 10.1016/j.ejca.2019.11.013. PMID: 32004793

Recent clinical studies

Etiology

Prendergast K, Kryeziu S, Crago AM
Surg Clin North Am 2022 Aug;102(4):667-677. doi: 10.1016/j.suc.2022.05.005. PMID: 35952695
Spolverato G, Capelli G, Kasper B, Gounder M
Surg Oncol Clin N Am 2022 Jul;31(3):447-458. Epub 2022 May 31 doi: 10.1016/j.soc.2022.03.008. PMID: 35715144
Riedel RF, Agulnik M
Cancer 2022 Aug 15;128(16):3027-3040. Epub 2022 Jun 7 doi: 10.1002/cncr.34332. PMID: 35670122Free PMC Article
Stacchiotti S, Miah AB, Frezza AM, Messiou C, Morosi C, Caraceni A, Antonescu CR, Bajpai J, Baldini E, Bauer S, Biagini R, Bielack S, Blay JY, Bonvalot S, Boukovinas I, Bovee JVMG, Boye K, Brodowicz T, Callegaro D, De Alava E, Deoras-Sutliff M, Dufresne A, Eriksson M, Errani C, Fedenko A, Ferraresi V, Ferrari A, Fletcher CDM, Garcia Del Muro X, Gelderblom H, Gladdy RA, Gouin F, Grignani G, Gutkovich J, Haas R, Hindi N, Hohenberger P, Huang P, Joensuu H, Jones RL, Jungels C, Kasper B, Kawai A, Le Cesne A, Le Grange F, Leithner A, Leonard H, Lopez Pousa A, Martin Broto J, Merimsky O, Merriam P, Miceli R, Mir O, Molinari M, Montemurro M, Oldani G, Palmerini E, Pantaleo MA, Patel S, Piperno-Neumann S, Raut CP, Ravi V, Razak ARA, Reichardt P, Rubin BP, Rutkowski P, Safwat AA, Sangalli C, Sapisochin G, Sbaraglia M, Scheipl S, Schöffski P, Strauss D, Strauss SJ, Sundby Hall K, Tap WD, Trama A, Tweddle A, van der Graaf WTA, Van De Sande MAJ, Van Houdt W, van Oortmerssen G, Wagner AJ, Wartenberg M, Wood J, Zaffaroni N, Zimmermann C, Casali PG, Dei Tos AP, Gronchi A
ESMO Open 2021 Jun;6(3):100170. Epub 2021 Jun 2 doi: 10.1016/j.esmoop.2021.100170. PMID: 34090171Free PMC Article
Desmoid Tumor Working Group
Eur J Cancer 2020 Mar;127:96-107. Epub 2020 Jan 28 doi: 10.1016/j.ejca.2019.11.013. PMID: 32004793

Diagnosis

Prendergast K, Kryeziu S, Crago AM
Surg Clin North Am 2022 Aug;102(4):667-677. doi: 10.1016/j.suc.2022.05.005. PMID: 35952695
Mikhael R, Smith M, Tzanis D, Watson S, Miah AB, Bonvalot S
Curr Opin Oncol 2022 Jul 1;34(4):335-341. doi: 10.1097/CCO.0000000000000854. PMID: 35837705
Riedel RF, Agulnik M
Cancer 2022 Aug 15;128(16):3027-3040. Epub 2022 Jun 7 doi: 10.1002/cncr.34332. PMID: 35670122Free PMC Article
Stacchiotti S, Miah AB, Frezza AM, Messiou C, Morosi C, Caraceni A, Antonescu CR, Bajpai J, Baldini E, Bauer S, Biagini R, Bielack S, Blay JY, Bonvalot S, Boukovinas I, Bovee JVMG, Boye K, Brodowicz T, Callegaro D, De Alava E, Deoras-Sutliff M, Dufresne A, Eriksson M, Errani C, Fedenko A, Ferraresi V, Ferrari A, Fletcher CDM, Garcia Del Muro X, Gelderblom H, Gladdy RA, Gouin F, Grignani G, Gutkovich J, Haas R, Hindi N, Hohenberger P, Huang P, Joensuu H, Jones RL, Jungels C, Kasper B, Kawai A, Le Cesne A, Le Grange F, Leithner A, Leonard H, Lopez Pousa A, Martin Broto J, Merimsky O, Merriam P, Miceli R, Mir O, Molinari M, Montemurro M, Oldani G, Palmerini E, Pantaleo MA, Patel S, Piperno-Neumann S, Raut CP, Ravi V, Razak ARA, Reichardt P, Rubin BP, Rutkowski P, Safwat AA, Sangalli C, Sapisochin G, Sbaraglia M, Scheipl S, Schöffski P, Strauss D, Strauss SJ, Sundby Hall K, Tap WD, Trama A, Tweddle A, van der Graaf WTA, Van De Sande MAJ, Van Houdt W, van Oortmerssen G, Wagner AJ, Wartenberg M, Wood J, Zaffaroni N, Zimmermann C, Casali PG, Dei Tos AP, Gronchi A
ESMO Open 2021 Jun;6(3):100170. Epub 2021 Jun 2 doi: 10.1016/j.esmoop.2021.100170. PMID: 34090171Free PMC Article
Skubitz KM, D'Adamo DR
Mayo Clin Proc 2007 Nov;82(11):1409-32. doi: 10.4065/82.11.1409. PMID: 17976362

Therapy

Mikhael R, Smith M, Tzanis D, Watson S, Miah AB, Bonvalot S
Curr Opin Oncol 2022 Jul 1;34(4):335-341. doi: 10.1097/CCO.0000000000000854. PMID: 35837705
Hélaine A, Podevin M
Bull Cancer 2020 Mar;107(3):381-384. Epub 2019 Dec 4 doi: 10.1016/j.bulcan.2019.06.017. PMID: 31812285
Davis LE, Bolejack V, Ryan CW, Ganjoo KN, Loggers ET, Chawla S, Agulnik M, Livingston MB, Reed D, Keedy V, Rushing D, Okuno S, Reinke DK, Riedel RF, Attia S, Mascarenhas L, Maki RG
J Clin Oncol 2019 Jun 1;37(16):1424-1431. Epub 2019 Apr 23 doi: 10.1200/JCO.18.02374. PMID: 31013172Free PMC Article
Gounder MM, Thomas DM, Tap WD
J Clin Oncol 2018 Jan 10;36(2):202-209. Epub 2017 Dec 8 doi: 10.1200/JCO.2017.75.8482. PMID: 29220303Free PMC Article
Skubitz KM, D'Adamo DR
Mayo Clin Proc 2007 Nov;82(11):1409-32. doi: 10.4065/82.11.1409. PMID: 17976362

Prognosis

Kasper B
Curr Opin Oncol 2023 Jul 1;35(4):292-295. Epub 2023 May 3 doi: 10.1097/CCO.0000000000000953. PMID: 37222208
Riedel RF, Agulnik M
Cancer 2022 Aug 15;128(16):3027-3040. Epub 2022 Jun 7 doi: 10.1002/cncr.34332. PMID: 35670122Free PMC Article
Desmoid Tumor Working Group
Eur J Cancer 2020 Mar;127:96-107. Epub 2020 Jan 28 doi: 10.1016/j.ejca.2019.11.013. PMID: 32004793
Gounder MM, Thomas DM, Tap WD
J Clin Oncol 2018 Jan 10;36(2):202-209. Epub 2017 Dec 8 doi: 10.1200/JCO.2017.75.8482. PMID: 29220303Free PMC Article
Skubitz KM, D'Adamo DR
Mayo Clin Proc 2007 Nov;82(11):1409-32. doi: 10.4065/82.11.1409. PMID: 17976362

Clinical prediction guides

Prendergast K, Kryeziu S, Crago AM
Surg Clin North Am 2022 Aug;102(4):667-677. doi: 10.1016/j.suc.2022.05.005. PMID: 35952695
Zhao CX, Dombrowski ND, Perez-Atayde AR, Robson CD, Afshar S, Janeway KA, Rahbar R
Int J Pediatr Otorhinolaryngol 2021 Jan;140:110511. Epub 2020 Nov 18 doi: 10.1016/j.ijporl.2020.110511. PMID: 33271436
Davis LE, Bolejack V, Ryan CW, Ganjoo KN, Loggers ET, Chawla S, Agulnik M, Livingston MB, Reed D, Keedy V, Rushing D, Okuno S, Reinke DK, Riedel RF, Attia S, Mascarenhas L, Maki RG
J Clin Oncol 2019 Jun 1;37(16):1424-1431. Epub 2019 Apr 23 doi: 10.1200/JCO.18.02374. PMID: 31013172Free PMC Article
Gounder MM, Thomas DM, Tap WD
J Clin Oncol 2018 Jan 10;36(2):202-209. Epub 2017 Dec 8 doi: 10.1200/JCO.2017.75.8482. PMID: 29220303Free PMC Article
Penel N, Chibon F, Salas S
Curr Opin Oncol 2017 Jul;29(4):268-274. doi: 10.1097/CCO.0000000000000374. PMID: 28489620Free PMC Article

Recent systematic reviews

Meade A, Wisecarver I, Cho MJ, Davis JJ, Duque S, Farewell JT, Zhang AY
Ann Plast Surg 2023 May 1;90(5S Suppl 2):S195-S202. Epub 2022 Dec 21 doi: 10.1097/SAP.0000000000003381. PMID: 36729103
Tsukamoto S, Takahama T, Mavrogenis AF, Tanaka Y, Tanaka Y, Errani C
Musculoskelet Surg 2023 Mar;107(1):7-18. Epub 2022 Feb 12 doi: 10.1007/s12306-022-00738-x. PMID: 35150408
Vora BMK, Munk PL, Somasundaram N, Ouellette HA, Mallinson PI, Sheikh A, Abdul Kadir H, Tan TJ, Yan YY
PLoS One 2021;16(12):e0261657. Epub 2021 Dec 23 doi: 10.1371/journal.pone.0261657. PMID: 34941915Free PMC Article
Emori M, Matsumoto Y, Murahashi Y, Yoshida M, Nishida Y
Nagoya J Med Sci 2021 Nov;83(4):673-681. doi: 10.18999/nagjms.83.4.673. PMID: 34916712Free PMC Article
Gómez FM, Patel PA, Stuart S, Roebuck DJ
Pediatr Radiol 2014 Oct;44(10):1281-9. Epub 2014 May 13 doi: 10.1007/s00247-014-3001-5. PMID: 24821394

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