Premium
Genetic alterations in a patient with Turcot's syndrome
Author(s) -
Suzui Masumi,
Yoshimi Naoki,
Hara Akira,
Morishita Yukio,
Tanaka Takuji,
Mori Hideki
Publication year - 1998
Publication title -
pathology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
eISSN - 1440-1827
pISSN - 1320-5463
DOI - 10.1111/j.1440-1827.1998.tb03881.x
Subject(s) - microsatellite instability , germline mutation , somatic cell , biology , brain tumor , germline , gene , cancer research , colorectal cancer , mutation , pathology , genetics , medicine , microsatellite , cancer , allele
Turcot's syndrome (TS) Is a rare disorder associated with the development of both brain and colon neoplasms. Because of the very low incidence of the disease, its molecular basis remains unclear. Presented is a TS case of a 30‐year‐old Japanese male with a histopathologically confirmed diagnosis of both brain tumor (glioblastoma multiforme) and colon tumor (well‐differentiated adenocar‐clnoma). Germline mutations of the p53 gene, somatic mutations of the Ki‐ras, p53and APC genes, and microsatel‐lite Instability (MSI) was examined using polymerase chain reaction (PCR)‐slngle strand conformation polymorphism analysis, followed by PCR‐dlrect sequencing, and sequencing after subclonlng. No germline mutations of the p53 gene were found. Somatic mutations of Kl‐ras and APC genes were found in the colon adenocarcinoma but not in the brain tumor. No somatic mutation of the pS3 gene was present in either colon or brain tumors. Microsatellite Instability of both colon and brain tumors was positive in two of four loci. These results indicate that the colon tumor of the TS patient carries the Kl‐ras and APC gene mutations. The finding of MSI in both the brain and the colon tumors may support the hypothesis that alterations of DNA repair genes are involved in the tumor development of the TS patient.