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First Case Report of Turcot Syndrome Type 1 in Colombia
Joint Authors
Natalia, Olaya
Dora, Vallejo
Diego, Garnica
Rómulo, Bonilla
Source
Case Reports in Oncological Medicine
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-12-18
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Turcot syndrome is an autosomal recessive disorder clinically characterized by the occurrence of primary tumors of the central nervous system and adenomatous colonic polyps during the first or second decades of life, with a spectrum of clinical features such as “café-au-lait” spots, axillary freckling, and hyperpigmented spots.
Currently its prevalence globally and in Colombia remains unknown.
We present the case of a 20-year-old male with a clinical presentation of both glioblastoma multiforme and multiple adenomatous colonic polyps.
The molecular genetics study revealed a mutation in KrasAsp12 gene and altered expression of HMSH2 and HMSH6 proteins encoded by the DNA mismatch repair genes in two of the colonic polyps.
Even though this clinical presentation may suggest a shorter survival rate, this patient is still alive after seven months of treatment.
A literature review complements this report.
American Psychological Association (APA)
Dora, Vallejo& Diego, Garnica& Rómulo, Bonilla& Natalia, Olaya. 2012. First Case Report of Turcot Syndrome Type 1 in Colombia. Case Reports in Oncological Medicine،Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-465414
Modern Language Association (MLA)
Dora, Vallejo…[et al.]. First Case Report of Turcot Syndrome Type 1 in Colombia. Case Reports in Oncological Medicine No. 2012 (2012), pp.1-4.
https://search.emarefa.net/detail/BIM-465414
American Medical Association (AMA)
Dora, Vallejo& Diego, Garnica& Rómulo, Bonilla& Natalia, Olaya. First Case Report of Turcot Syndrome Type 1 in Colombia. Case Reports in Oncological Medicine. 2012. Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-465414
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-465414