Turcot syndrome (glioma polyposis): a case report.
Turcot's syndrome (glioma-polyposis) is a rare hereditary disorder characterized by association of colonic polyposis with primary tumors of the central nervous system. We report a case of a 27-year-old male diagnosed with Turcot's syndrome after an autopsy. The patient survived for more than two decades after his initial presentation with medulloblastoma at the age of five years. Such a long survival is exceptional in patients with this syndrome. Based on the genetic mutations, the patients with Turcot's syndrome are classified into adenomatous polyposis coli (APC) group or hereditary non-polyposis colon cancer (HNPCC) group. The article highlights the contrasting features of the two groups.
Sarin
Sanjay
S
Department of Internal Medicine, Geisinger Medical Center, Danville, PA 17822-2160, USA. ssarin007@hotmail.com
Bernath
Albert
A
D000230:Adenocarcinoma / Q000235:genetics / Q000473:pathology* / Q000556:secondary; D011125:Adenomatous Polyposis Coli / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002528:Cerebellar Neoplasms / Q000235:genetics / Q000473:pathology*; D003110:Colonic Neoplasms / Q000235:genetics / Q000473:pathology*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D005820:Genetic Testing; D006801:Humans; D008113:Liver Neoplasms / Q000473:pathology / Q000556:secondary; D008207:Lymphatic Metastasis / Q000473:pathology; D008297:Male; D008527:Medulloblastoma / Q000235:genetics / Q000473:pathology*; D009102:Multiple Organ Failure / Q000235:genetics / Q000473:pathology; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000473:pathology*