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Gardner syndrome(GS)

MedGen UID:
6547
•Concept ID:
C0017097
•
Disease or Syndrome
Synonyms: Gardner's syndrome; GS; Intestinal polyposis, osteomas, sebaceous cysts; Polyposis coli and multiple hard and soft tissue tumors
SNOMED CT: Gardner syndrome (60876000); GS - Gardner's syndrome (60876000)
 
Monarch Initiative: MONDO:0019336
Orphanet: ORPHA79665

Definition

Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGardner syndrome
Follow this link to review classifications for Gardner syndrome in Orphanet.

Professional guidelines

PubMed

Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.
Escudero A, Ferreras C, Rodriguez-Salas N, Corral D, Rodriguez L, Pérez-Martínez A
Int J Clin Oncol 2022 May;27(5):992-1000. Epub 2022 Feb 21 doi: 10.1007/s10147-022-02133-9. PMID: 35190929
The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients.
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
Gardner syndrome: skin manifestations, differential diagnosis and management.
Juhn E, Khachemoune A
Am J Clin Dermatol 2010;11(2):117-22. doi: 10.2165/11311180-000000000-00000. PMID: 20141232

Recent clinical studies

Etiology

Genodermatoses with malignant potential.
Ladd R, Davis M, Dyer JA
Clin Dermatol 2020 Jul-Aug;38(4):432-454. Epub 2020 Mar 30 doi: 10.1016/j.clindermatol.2020.03.007. PMID: 32972602
The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients.
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
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Colon polyps.
Watne AL
J Surg Oncol 1997 Nov;66(3):207-14. doi: 10.1002/(sici)1096-9098(199711)66:3<207::aid-jso10>3.0.co;2-z. PMID: 9369968
Gardner's syndrome.
Perniciaro C
Dermatol Clin 1995 Jan;13(1):51-6. PMID: 7712650

Diagnosis

Genodermatoses with malignant potential.
Ladd R, Davis M, Dyer JA
Clin Dermatol 2020 Jul-Aug;38(4):432-454. Epub 2020 Mar 30 doi: 10.1016/j.clindermatol.2020.03.007. PMID: 32972602
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Hamartoneoplastic syndromes.
Shafer DM, Di Pasquale LM
Atlas Oral Maxillofac Surg Clin North Am 2014 Sep;22(2):153-66. doi: 10.1016/j.cxom.2014.04.002. PMID: 25171996
Gardner syndrome: skin manifestations, differential diagnosis and management.
Juhn E, Khachemoune A
Am J Clin Dermatol 2010;11(2):117-22. doi: 10.2165/11311180-000000000-00000. PMID: 20141232
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD
Am J Gastroenterol 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. PMID: 16454848

Therapy

Clinical outcomes of systemic therapy for patients with deep fibromatosis (desmoid tumor).
de Camargo VP, Keohan ML, D'Adamo DR, Antonescu CR, Brennan MF, Singer S, Ahn LS, Maki RG
Cancer 2010 May 1;116(9):2258-65. doi: 10.1002/cncr.25089. PMID: 20187095Free PMC Article
Familial thyroid cancer.
Alsanea O, Clark OH
Curr Opin Oncol 2001 Jan;13(1):44-51. doi: 10.1097/00001622-200101000-00009. PMID: 11148685
Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer.
Burt RW, Bishop DT, Lynch HT, Rozen P, Winawer SJ
Bull World Health Organ 1990;68(5):655-65. PMID: 2289301Free PMC Article
Sulindac for polyposis of the colon.
Waddell WR, Ganser GF, Cerise EJ, Loughry RW
Am J Surg 1989 Jan;157(1):175-9. doi: 10.1016/0002-9610(89)90442-x. PMID: 2535920
What's new in colon carcinogenesis?
Grundmann E
Pathol Res Pract 1985 Jan;179(3):429-32. doi: 10.1016/S0344-0338(85)80154-0. PMID: 2984646

Prognosis

The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients.
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
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Abdominal manifestations of neurologic disorders.
Bhavsar AS, Verma S, Lamba R, Lall CG, Koenigsknecht V, Rajesh A
Radiographics 2013 Jan-Feb;33(1):135-53. doi: 10.1148/rg.331125097. PMID: 23322834
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD
Am J Gastroenterol 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. PMID: 16454848
Gardner's syndrome.
Perniciaro C
Dermatol Clin 1995 Jan;13(1):51-6. PMID: 7712650

Clinical prediction guides

Spectrum of Hybrid Cysts and Their Clinical Significance.
Chang RS, Yao XF, Wu YH
Am J Dermatopathol 2018 Jun;40(6):397-400. doi: 10.1097/DAD.0000000000001006. PMID: 28937429
Attenuated adenomatous polyposis of the large bowel: Present and future.
Roncucci L, Pedroni M, Mariani F
World J Gastroenterol 2017 Jun 21;23(23):4135-4139. doi: 10.3748/wjg.v23.i23.4135. PMID: 28694653Free PMC Article
Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies.
Ponti G, Tomasi A, Manfredini M, Pellacani G
Gene 2016 May 10;582(1):23-32. Epub 2016 Feb 3 doi: 10.1016/j.gene.2016.01.053. PMID: 26850131
Gene-expression profiling of adrenocortical carcinoma.
Suh I, Guerrero MA, Kebebew E
Expert Rev Mol Diagn 2009 May;9(4):343-51. doi: 10.1586/erm.09.13. PMID: 19441174
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD
Am J Gastroenterol 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. PMID: 16454848

Recent systematic reviews

Nuchal-type Fibroma: Single-Center Experience and Systematic Literature Review.
Kostakis ID, Feretis T, Damaskos C, Garmpis N, Liapis G, Pateras I, Garmpi A, Georgakopoulou VE, Antoniou EA
In Vivo 2020 Sep-Oct;34(5):2217-2223. doi: 10.21873/invivo.12032. PMID: 32871744Free PMC Article
Ameloblastoma associated with syndromes: A systematic review.
Atarbashi-Moghadam S, Atarbashi-Moghadam F, Sijanivandi S, Mokhtari S
J Stomatol Oral Maxillofac Surg 2020 Apr;121(2):146-149. Epub 2019 Jul 20 doi: 10.1016/j.jormas.2019.07.010. PMID: 31336213

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    Related information

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    • GTR(Clinical)
      Clinical tests in GTR
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