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Desmoid disease, hereditary(DESMD)

MedGen UID:
338210
Concept ID:
C1851124
Disease or Syndrome
Synonyms: DESMD; Fibromatosis, familial infiltrative
 
Gene (location): APC (5q22.2)
 
OMIM®: 135290

Disease characteristics

Excerpted from the GeneReview: APC-Associated Polyposis Conditions
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. [from GeneReviews]
Authors:
Timothy Yen  |  Peter P Stanich  |  Lisen Axell, et. al.   view full author information

Additional descriptions

From OMIM
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).  http://www.omim.org/entry/135290
From MedlinePlus Genetics
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.

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.  https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis
From MedlinePlus Genetics
A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs.

Desmoid tumors are fibrous, much like scar tissue. They are generally not considered cancerous (malignant) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. These tumors often recur, even after apparently complete removal.

The most common symptom of desmoid tumors is pain. Other signs and symptoms, which are often caused by growth of the tumor into surrounding tissue, vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints and cause limping or difficulty moving the arms or legs.

Desmoid tumors occur frequently in people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of an inherited condition are described as sporadic.  https://medlineplus.gov/genetics/condition/desmoid-tumor

Clinical features

From HPO
Desmoid tumor
MedGen UID:
38187
Concept ID:
C0079218
Neoplastic Process
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.
Colon cancer
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Colorectal polyposis
MedGen UID:
182694
Concept ID:
C0949059
Neoplastic Process
Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.
Breast carcinoma
MedGen UID:
146260
Concept ID:
C0678222
Neoplastic Process
The presence of a carcinoma of the breast.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Desmoid disease, hereditary in Orphanet.

Professional guidelines

PubMed

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
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
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

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
Perrier L, Rascle P, Morelle M, Toulmonde M, Ranchere Vince D, Le Cesne A, Terrier P, Neuville A, Meeus P, Farsi F, Ducimetière F, Blay JY, Ray Coquard I, Coindre JM
PLoS One 2018;13(4):e0193330. Epub 2018 Apr 5 doi: 10.1371/journal.pone.0193330. PMID: 29621244Free PMC Article
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
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
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

Erickson LA, Chen B
Mayo Clin Proc 2022 Jan;97(1):193-195. doi: 10.1016/j.mayocp.2021.11.025. PMID: 34996557
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
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
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
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

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
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
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
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
Xhaja X, Church J
Colorectal Dis 2013 Dec;15(12):1489-92. doi: 10.1111/codi.12416. PMID: 24020802

Prognosis

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
Perrier L, Rascle P, Morelle M, Toulmonde M, Ranchere Vince D, Le Cesne A, Terrier P, Neuville A, Meeus P, Farsi F, Ducimetière F, Blay JY, Ray Coquard I, Coindre JM
PLoS One 2018;13(4):e0193330. Epub 2018 Apr 5 doi: 10.1371/journal.pone.0193330. PMID: 29621244Free PMC Article
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
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
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

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
Perrier L, Rascle P, Morelle M, Toulmonde M, Ranchere Vince D, Le Cesne A, Terrier P, Neuville A, Meeus P, Farsi F, Ducimetière F, Blay JY, Ray Coquard I, Coindre JM
PLoS One 2018;13(4):e0193330. Epub 2018 Apr 5 doi: 10.1371/journal.pone.0193330. PMID: 29621244Free PMC Article
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
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
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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