Document Detail


Pinealoblastoma in a patient with familial adenomatous polyposis: variant of Turcot syndrome type 2? Report of a case and review of the literature.
MedLine Citation:
PMID:  16400511     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a case of a 23-year-old Turcot female patient who was first diagnosed as having a pinealoblastoma. Thyroid papillary carcinoma was diagnosed a few months later, and multiple colonic polyps were detected three years after that. A genetic workup revealed an APC gene mutation in her family. Long-term survival (i.e., >5 years) of pinealoblastoma is considered to be 20 percent. A review of 25 documented Turcot cases determined that the average age at death is 20.3 years, raising the difficult question of whether she should undergo restorative proctocolectomy. Restorative proctocolectomy may itself cause major morbidity but is currently the only way to prevent colon cancer.
Authors:
T Gadish; H Tulchinsky; A A Deutsch; M Rabau
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Diseases of the colon and rectum     Volume:  48     ISSN:  0012-3706     ISO Abbreviation:  Dis. Colon Rectum     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2006-01-10     Completed Date:  2006-01-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372764     Medline TA:  Dis Colon Rectum     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2343-6     Citation Subset:  IM    
Affiliation:
Proctology Unit, Department of Surgery "B,", Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel, hagitt@tasmc.gov.il.
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MeSH Terms
Descriptor/Qualifier:
Adenomatous Polyposis Coli / genetics*,  pathology
Adult
Brain Neoplasms / genetics*,  pathology
Carcinoma, Papillary / genetics,  pathology
DNA Mutational Analysis
Female
Genes, APC
Humans
Pineal Gland*
Pinealoma / genetics*,  pathology
Syndrome
Thyroid Neoplasms / genetics,  pathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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