Turcot Syndrome: A Case Report in an Unsuspected Setting

Chung, Hyuk; Oh, Seong Taek; Kim, Jun Gi; Kang, Won Kyung

doi:10.1007/s11605-011-1698-0

Cited by 8 publications

(2 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Preventive treatment strategies would represent a major advance for CMMRD therapy and the benefits of novel long-term conventional therapies such as acetylsalicylic acid (aspirin) are emerging [ 58 ]. As CMMRD is rare, information on its optimal therapeutic strategies are limited and current knowledge of treatment regimens and their outcomes are limited to individual case reports, often with variable disease phenotypes [ 29 , 36 , 39 , 42 , 46 , 59 – 70 ]. Chemotherapy remains a frontline treatment, but toxicity is a major issue in children.…”

Section: Current Cmmrd Treatmentmentioning

confidence: 99%

Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies

Abedalthagafi

2018

Oncotarget

View full text Add to dashboard Cite

Mismatch repair (MMR) proteins remove errors from newly synthesized DNA, improving the fidelity of DNA replication. A loss of MMR causes a mutated phenotype leading to a predisposition to cancer.In the last 20 years, an increasing number of patients have been described with biallelic MMR gene mutations in which MMR defects are inherited from both parents. This leads to a syndrome with recessive inheritance, referred to as constitutional mismatch repair-deficiency (CMMRD). CMMRD is a rare childhood cancer predisposition syndrome. The spectrum of CMMRD tumours is broad and CMMRD-patients possess a high risk of multiple cancers including hematological, brain and intestinal tumors. The severity of CMMRD is highlighted by the fact that patients do not survive until later life, emphasising the requirement for new therapeutic interventions.Many tumors in CMMRD-patients are hypermutated leading to the production of truncated protein products termed neoantigens. Neoantigens are recognized as foreign by the immune system and induce antitumor immune responses. There is growing evidence to support the clinical efficacy of neoantigen based vaccines and immune checkpoint inhibitors (collectively referred to as immunotherapy) for the treatment of CMMRD cancers. In this review, we discuss the current knowledge of CMMRD, the advances in its diagnosis, and the emerging therapeutic strategies for CMMRD-cancers.

show abstract

Section: Current Cmmrd Treatmentmentioning

confidence: 99%

Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies

Abedalthagafi

2018

Oncotarget

View full text Add to dashboard Cite

show abstract

“…Muir-Torre syndrome patients have also risk for developing certain skin changes in adulthood in the sebaceous glands, which include sebaceous adenomas, sebaceous epitheliomas, sebaceous carcinomas, and keratoacanthomas. Turcot syndrome is a type of both HNPCC and FAP characterized by multiple adenomatous colon polyps, and increased risk of CRC and brain cancer [83]. The type of brain cancer depends on whether the Turcot syndrome is more similar to HNPCC (glioblastoma) or FAP (medulloblastoma).…”

Section: Types Of Colorectal Cancermentioning

confidence: 99%

General Aspects of Colorectal Cancer

Centelles

2012

ISRN Oncology

View full text Add to dashboard Cite

Colorectal cancer (CRC) is one of the main causes of death. Cancer is initiated by several DNA damages, affecting proto-oncogenes, tumour suppressor genes, and DNA repairing genes. The molecular origins of CRC are chromosome instability (CIN), microsatellite instability (MSI), and CpG island methylator phenotype (CIMP). A brief description of types of CRC cancer is presented, including sporadic CRC, hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndromes, familiar adenomatous polyposis (FAP), MYH-associated polyposis (MAP), Peutz-Jeghers syndrome (PJS), and juvenile polyposis syndrome (JPS). Some signalling systems for CRC are also described, including Wnt-β-catenin pathway, tyrosine kinase receptors pathway, TGF-β pathway, and Hedgehog pathway. Finally, this paper describes also some CRC treatments.

show abstract

Diplopia as presenting sign of Turcot syndrome

et al. 2016

View full text Add to dashboard Cite

Although strabismus is not, diplopia in childhood is rare and seldom innocuous. It requires a prompt and thorough diagnostic evaluation, including thorough, dilated fundoscopy. The presence of POFLs combined with neurological symptoms suggestive of a brain tumour should alert the clinician of the possibility of Turcot syndrome. Recognition of this rare syndrome can lead to earlier diagnosis, which is vital for appropriate surveillance and early surgical intervention of the highly frequent neoplasias in Turcot Syndrome.

show abstract

Turcot Syndrome: A Case Report in an Unsuspected Setting

Cited by 8 publications

References 12 publications

Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies

Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies

General Aspects of Colorectal Cancer

Diplopia as presenting sign of Turcot syndrome

Contact Info

Product

Resources

About