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Turcot Syndrome Type 1

MedGen UID:
275520
•Concept ID:
C1519702
•
Neoplastic Process

Definition

An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, or MSH2 genes. It is characterized by the presence of glioblastoma and the absence of familiar adenomatous polyposis. Patients often develop hereditary nonpolyposis colorectal carcinoma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTurcot Syndrome Type 1

Professional guidelines

PubMed

Diagnosis and Management of Constitutional Mismatch Repair Deficiency Syndrome.
Winter K, Tan M, Briscoe E, Hyde A, Daniel Stanley J
Am Surg 2023 Sep;89(9):3953-3955. Epub 2023 Jun 1 doi: 10.1177/00031348231173987. PMID: 37260094
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.
Kehrer-Sawatzki H, Cooper DN
Hum Genet 2022 Feb;141(2):177-191. Epub 2021 Dec 20 doi: 10.1007/s00439-021-02410-z. PMID: 34928431Free PMC Article
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
Aronson M, Colas C, Shuen A, Hampel H, Foulkes WD, Baris Feldman H, Goldberg Y, Muleris M, Wolfe Schneider K, McGee RB, Jasperson K, Rangaswami A, Brugieres L, Tabori U
J Med Genet 2022 Apr;59(4):318-327. Epub 2021 Feb 23 doi: 10.1136/jmedgenet-2020-107627. PMID: 33622763

Recent clinical studies

Etiology

Glioblastomas with giant cell and sarcomatous features in patients with Turcot syndrome type 1: a clinicopathological study of 3 cases.
Lusis EA, Travers S, Jost SC, Perry A
Neurosurgery 2010 Sep;67(3):811-7; discussion 817. doi: 10.1227/01.NEU.0000375513.12925.5C. PMID: 20657316

Diagnosis

Glioblastomas with giant cell and sarcomatous features in patients with Turcot syndrome type 1: a clinicopathological study of 3 cases.
Lusis EA, Travers S, Jost SC, Perry A
Neurosurgery 2010 Sep;67(3):811-7; discussion 817. doi: 10.1227/01.NEU.0000375513.12925.5C. PMID: 20657316
Molecular analysis of astrocytoma associated with Turcot syndrome type 1--case report.
Okamoto H, Mineta T, Nakahara Y, Ichinose M, Shiraishi T, Tabuchi K
Neurol Med Chir (Tokyo) 2004 Mar;44(3):124-8. doi: 10.2176/nmc.44.124. PMID: 15095965

Prognosis

Glioblastomas with giant cell and sarcomatous features in patients with Turcot syndrome type 1: a clinicopathological study of 3 cases.
Lusis EA, Travers S, Jost SC, Perry A
Neurosurgery 2010 Sep;67(3):811-7; discussion 817. doi: 10.1227/01.NEU.0000375513.12925.5C. PMID: 20657316

Clinical prediction guides

Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.
Giunti L, Cetica V, Ricci U, Giglio S, Sardi I, Paglierani M, Andreucci E, Sanzo M, Forni M, Buccoliero AM, Genitori L, Genuardi M
Eur J Hum Genet 2009 Jul;17(7):919-27. Epub 2009 Jan 21 doi: 10.1038/ejhg.2008.271. PMID: 19156169Free PMC Article

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