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Turcot syndrome with polyposis

MedGen UID:
1826134
•Concept ID:
C5681818
•
Disease or Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0020497
Orphanet: ORPHA99818

Definition

Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTurcot syndrome with polyposis

Professional guidelines

PubMed

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
Revolutionary advances in the diagnosis and treatment of Familial Adenomatous Polyposis.
Edlich R, Cross CL, Wack CA, Chase ME, Gubler K, Long WB 3rd
J Environ Pathol Toxicol Oncol 2009;28(1):47-52. doi: 10.1615/jenvironpatholtoxicoloncol.v28.i1.50. PMID: 19392654
Hereditary colorectal cancer: risk assessment and management.
Hampel H, Peltomaki P
Clin Genet 2000 Aug;58(2):89-97. doi: 10.1034/j.1399-0004.2000.580201.x. PMID: 11005140

Recent clinical studies

Etiology

Novel neoplasms associated with syndromic pediatric medulloblastoma: integrated pathway delineation for personalized therapy.
Georgescu MM, Whipple SG, Notarianni CM
Cell Commun Signal 2022 Aug 17;20(1):123. doi: 10.1186/s12964-022-00930-3. PMID: 35978432Free PMC Article
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
Genetic Syndromes Associated with Central Nervous System Tumors.
Vijapura C, Saad Aldin E, Capizzano AA, Policeni B, Sato Y, Moritani T
Radiographics 2017 Jan-Feb;37(1):258-280. Epub 2016 Dec 2 doi: 10.1148/rg.2017160057. PMID: 27911673
Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
Carethers JM, Stoffel EM
World J Gastroenterol 2015 Aug 21;21(31):9253-61. doi: 10.3748/wjg.v21.i31.9253. PMID: 26309352Free PMC Article
Hereditary colorectal cancer: risk assessment and management.
Hampel H, Peltomaki P
Clin Genet 2000 Aug;58(2):89-97. doi: 10.1034/j.1399-0004.2000.580201.x. PMID: 11005140

Diagnosis

Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome.
Mokhashi N, Cai LZ, Shields CL, Benson WE, Ho AC
Curr Opin Ophthalmol 2021 Nov 1;32(6):567-573. doi: 10.1097/ICU.0000000000000798. PMID: 34456292
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
Genetic Syndromes Associated with Central Nervous System Tumors.
Vijapura C, Saad Aldin E, Capizzano AA, Policeni B, Sato Y, Moritani T
Radiographics 2017 Jan-Feb;37(1):258-280. Epub 2016 Dec 2 doi: 10.1148/rg.2017160057. PMID: 27911673
Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.
Durno CA, Sherman PM, Aronson M, Malkin D, Hawkins C, Bakry D, Bouffet E, Gallinger S, Pollett A, Campbell B, Tabori U; International BMMRD Consortium
Eur J Cancer 2015 May;51(8):977-83. Epub 2015 Apr 13 doi: 10.1016/j.ejca.2015.02.008. PMID: 25883011
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

Pineoblastoma presenting in familial adenomatous polyposis (FAP): random association, FAP variant or Turcot syndrome?
Ikeda J, Sawamura Y, van Meir EG
Br J Neurosurg 1998 Dec;12(6):576-8. doi: 10.1080/02688699844475. PMID: 10070471

Prognosis

Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report.
Sağ E, Erkut M, Saygin İ, Çebi AH, Bahadir A, Erduran E, Saruhan H, Cakir M
J Pediatr Hematol Oncol 2020 Oct;42(7):e689-e691. doi: 10.1097/MPH.0000000000001614. PMID: 31599855
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
Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
Carethers JM, Stoffel EM
World J Gastroenterol 2015 Aug 21;21(31):9253-61. doi: 10.3748/wjg.v21.i31.9253. PMID: 26309352Free PMC Article
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
Ocular findings in Turcot syndrome (glioma-polyposis).
Munden PM, Sobol WM, Weingeist TA
Ophthalmology 1991 Jan;98(1):111-4. doi: 10.1016/s0161-6420(91)32354-6. PMID: 1850823

Clinical prediction guides

Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome.
Mokhashi N, Cai LZ, Shields CL, Benson WE, Ho AC
Curr Opin Ophthalmol 2021 Nov 1;32(6):567-573. doi: 10.1097/ICU.0000000000000798. PMID: 34456292
Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
Carethers JM, Stoffel EM
World J Gastroenterol 2015 Aug 21;21(31):9253-61. doi: 10.3748/wjg.v21.i31.9253. PMID: 26309352Free PMC Article
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
Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis.
Tops CM, Vasen HF, van Berge Henegouwen G, Simoons PP, van de Klift HM, van Leeuwen SJ, Breukel C, Fodde R, den Hartog Jager FC, Nagengast FM
Am J Med Genet 1992 Jul 15;43(5):888-93. doi: 10.1002/ajmg.1320430528. PMID: 1322639
Ocular findings in Turcot syndrome (glioma-polyposis).
Munden PM, Sobol WM, Weingeist TA
Ophthalmology 1991 Jan;98(1):111-4. doi: 10.1016/s0161-6420(91)32354-6. PMID: 1850823

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