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Desmoid tumors

MedGen UID:
38187
Concept ID:
C0079218
Neoplastic Process
Synonyms: Aggressive Fibromatoses; Aggressive Fibromatosis; Desmoid; Desmoids; Fibromatoses, Aggressive; Fibromatosis, Aggressive
SNOMED CT: Desmoid fibromatosis (399994005); Deep fibromatosis (400055004); Desmoid-type fibromatosis (47284001); Desmoid tumor (47284001); Aggressive fibromatosis (47284001); Extra-abdominal desmoid (47284001); Invasive fibroma (47284001); Desmoid (47284001)
 
HPO: HP:0100245

Definition

A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed) [from MeSH]

Conditions with this feature

Familial multiple polyposis syndrome
MedGen UID:
46010
Concept ID:
C0032580
Neoplastic Process
Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.
Desmoid disease, hereditary
MedGen UID:
338210
Concept ID:
C1851124
Disease or Syndrome
Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; 175100), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene. The desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity. Desmoid tumors can also arise sporadically (Couture et al., 2000).
Familial adenomatous polyposis 1
MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
APC-associated polyposis conditions include: familial adenomatous polyposis (FAP), attenuated FAP, and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colon cancer predisposition syndrome in which hundreds to thousands of adenomatous colonic polyps develop, beginning, on average, at age 16 years (range 7-36 years). By age 35 years, 95% of individuals with FAP have polyps; without colectomy, colon cancer is inevitable. The mean age of colon cancer diagnosis in untreated individuals is 39 years (range 34-43 years). Extracolonic manifestations are variably present and include: polyps of the gastric fundus and duodenum, osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE), soft tissue tumors, desmoid tumors, and associated cancers. Attenuated FAP is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of colon cancer at a later age than in FAP. Certain extracolonic manifestations, such as gastric and duodenal polyps or cancers, are variably present in attenuated FAP; risk management may be substantially different between FAP and attenuated FAP. GAPPS is characterized by gastric fundic gland polyposis, increased risk of gastric cancer, and limited colonic involvement in most individuals reported.

Recent clinical studies

Etiology

Santti K, Beule A, Tuomikoski L, Rönty M, Jääskeläinen AS, Saarilahti K, Ihalainen H, Tarkkanen M, Blomqvist C
Strahlenther Onkol 2017 Apr;193(4):269-275. Epub 2017 Jan 2 doi: 10.1007/s00066-016-1091-8. PMID: 28044201
Slowik V, Attard T, Dai H, Shah R, Septer S
BMC Gastroenterol 2015 Jul 16;15:84. doi: 10.1186/s12876-015-0306-2. PMID: 26179480Free PMC Article
Houdek MT, Rose PS, Kakar S
J Hand Surg Am 2014 Sep;39(9):1761-5. Epub 2014 Jul 18 doi: 10.1016/j.jhsa.2014.06.015. PMID: 25042539
Hamada S, Futamura N, Ikuta K, Urakawa H, Kozawa E, Ishiguro N, Nishida Y
PLoS One 2014;9(5):e96391. Epub 2014 May 1 doi: 10.1371/journal.pone.0096391. PMID: 24788118Free PMC Article
Nieuwenhuis MH, Lefevre JH, Bülow S, Järvinen H, Bertario L, Kernéis S, Parc Y, Vasen HF
Dis Colon Rectum 2011 Oct;54(10):1229-34. doi: 10.1097/DCR.0b013e318227e4e8. PMID: 21904137

Diagnosis

Santti K, Beule A, Tuomikoski L, Rönty M, Jääskeläinen AS, Saarilahti K, Ihalainen H, Tarkkanen M, Blomqvist C
Strahlenther Onkol 2017 Apr;193(4):269-275. Epub 2017 Jan 2 doi: 10.1007/s00066-016-1091-8. PMID: 28044201
Le Guellec S, Soubeyran I, Rochaix P, Filleron T, Neuville A, Hostein I, Coindre JM
Mod Pathol 2012 Dec;25(12):1551-8. Epub 2012 Jul 6 doi: 10.1038/modpathol.2012.115. PMID: 22766794
Nieuwenhuis MH, Lefevre JH, Bülow S, Järvinen H, Bertario L, Kernéis S, Parc Y, Vasen HF
Dis Colon Rectum 2011 Oct;54(10):1229-34. doi: 10.1097/DCR.0b013e318227e4e8. PMID: 21904137
Husain Z, Benevenia J, Uglialoro AD, Beebe KS, Patterson FR, Hameed MR, Cathcart CS
Am J Orthop (Belle Mead NJ) 2011 May;40(5):E78-82. PMID: 21734937
Oka K, Yakushiji T, Sato H, Fujimoto T, Hirai T, Yamashita Y, Mizuta H
J Magn Reson Imaging 2011 Jan;33(1):189-93. doi: 10.1002/jmri.22406. PMID: 21182138

Therapy

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
Nishida Y, Tsukushi S, Urakawa H, Hamada S, Kozawa E, Ikuta K, Ando Y, Ishiguro N
Int J Clin Oncol 2015 Dec;20(6):1211-7. Epub 2015 Apr 22 doi: 10.1007/s10147-015-0829-0. PMID: 25899770
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
Gaggelli I, Scipioni F, Tirone A, Carli AF
Ann Ital Chir 2014 Oct 7;85(ePub) PMID: 25335448
Hamada S, Futamura N, Ikuta K, Urakawa H, Kozawa E, Ishiguro N, Nishida Y
PLoS One 2014;9(5):e96391. Epub 2014 May 1 doi: 10.1371/journal.pone.0096391. PMID: 24788118Free PMC Article

Prognosis

Santti K, Beule A, Tuomikoski L, Rönty M, Jääskeläinen AS, Saarilahti K, Ihalainen H, Tarkkanen M, Blomqvist C
Strahlenther Onkol 2017 Apr;193(4):269-275. Epub 2017 Jan 2 doi: 10.1007/s00066-016-1091-8. PMID: 28044201
Mussi CE, Colombo P, Lo Russo C, Kasangian A, Cananzi F, Marrari A, Morenghi E, De Sanctis R, Quagliuolo V
Tumori 2016 Dec 1;102(6):582-587. Epub 2016 Sep 3 doi: 10.5301/tj.5000552. PMID: 27647224
Wang YF, Guo W, Sun KK, Yang RL, Tang XD, Ji T, Tang S
World J Surg Oncol 2015 Feb 7;13:26. doi: 10.1186/s12957-015-0450-8. PMID: 25888954Free PMC Article
Hamada S, Futamura N, Ikuta K, Urakawa H, Kozawa E, Ishiguro N, Nishida Y
PLoS One 2014;9(5):e96391. Epub 2014 May 1 doi: 10.1371/journal.pone.0096391. PMID: 24788118Free PMC Article
Mullen JT, DeLaney TF, Rosenberg AE, Le L, Iafrate AJ, Kobayashi W, Szymonifka J, Yeap BY, Chen YL, Harmon DC, Choy E, Yoon SS, Raskin KA, Hornicek FJ, Nielsen GP
Oncologist 2013;18(9):1043-9. Epub 2013 Aug 19 doi: 10.1634/theoncologist.2012-0449. PMID: 23960186Free PMC Article

Clinical prediction guides

Santti K, Beule A, Tuomikoski L, Rönty M, Jääskeläinen AS, Saarilahti K, Ihalainen H, Tarkkanen M, Blomqvist C
Strahlenther Onkol 2017 Apr;193(4):269-275. Epub 2017 Jan 2 doi: 10.1007/s00066-016-1091-8. PMID: 28044201
Shi Y, Huang Y, Zhou M, Ying X, Hu X
J Med Ultrason (2001) 2016 Apr;43(2):279-84. Epub 2015 Oct 27 doi: 10.1007/s10396-015-0682-9. PMID: 27033872
Hamada S, Futamura N, Ikuta K, Urakawa H, Kozawa E, Ishiguro N, Nishida Y
PLoS One 2014;9(5):e96391. Epub 2014 May 1 doi: 10.1371/journal.pone.0096391. PMID: 24788118Free PMC Article
Le Guellec S, Soubeyran I, Rochaix P, Filleron T, Neuville A, Hostein I, Coindre JM
Mod Pathol 2012 Dec;25(12):1551-8. Epub 2012 Jul 6 doi: 10.1038/modpathol.2012.115. PMID: 22766794
Oka K, Yakushiji T, Sato H, Fujimoto T, Hirai T, Yamashita Y, Mizuta H
J Magn Reson Imaging 2011 Jan;33(1):189-93. doi: 10.1002/jmri.22406. PMID: 21182138

Recent systematic reviews

Ver Halen JP, Soto-Miranda MA, Sandoval JA
Ann Plast Surg 2015 Oct;75(4):480-6. doi: 10.1097/SAP.0000000000000129. PMID: 26360656
Slowik V, Attard T, Dai H, Shah R, Septer S
BMC Gastroenterol 2015 Jul 16;15:84. doi: 10.1186/s12876-015-0306-2. PMID: 26179480Free PMC Article
De Vloo P, De Vlieger J, Vander Poorten V, Sciot R, van Loon J, Van Calenbergh F
Clin Neurol Neurosurg 2015 Feb;129:78-84. Epub 2014 Dec 24 doi: 10.1016/j.clineuro.2014.12.007. PMID: 25576767
Church JM, Xhaja X, Warrier SK, Laguardia L, O'Malley M, Burke C, Kalady MF
Dis Colon Rectum 2014 Mar;57(3):343-7. doi: 10.1097/DCR.0b013e3182a85d9f. PMID: 24509457
Leithner A, Gapp M, Leithner K, Radl R, Krippl P, Beham A, Windhager R
J Surg Oncol 2004 Jun 1;86(3):152-6. doi: 10.1002/jso.20057. PMID: 15170654

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