Transforming growth factor beta receptor II mutations in RER positive colorectal cancers.
- Author:
Mao-de LAI
1
;
Zhi-da HUANG
;
Qiong HUANG
;
Jian CHEN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Aged; Colorectal Neoplasms; genetics; Female; Humans; Male; Microsatellite Repeats; Middle Aged; Point Mutation; Polymerase Chain Reaction; Protein-Serine-Threonine Kinases; Receptors, Transforming Growth Factor beta; genetics
- From: Chinese Journal of Pathology 2004;33(1):6-10
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect alterations of microsatellite loci [transforming growth factor beta receptor II (TGF-betaRII)(A)(10), TGF-betaRII(GT)(3), hMSH3(A)(8), hMSH6(C)(8), Bax(G)(8), IGFIIR(G)(8), IGFIIR(CT)(3)] and point mutations of TGF-betaRII (TGF-betaRII 452/454, TGF-betaRII 533).
METHODSPCR-SSLP, microdissection-PCR-SSLP, PCR-SSCP, clone sequencing and immunohistochemistry were used.
RESULTSThe mutation rate of TGF-betaRII(A)(10) in RER+ (replication error positive) colorectal carcinomas was 33% (3/9). Similar mutations were also observed in adenomas with severe dysplasia. No mutations at other microsatellite loci were found. RER+ colorectal cancers mainly occurred in male patients at a young age and were more common in the colon than in the rectum (P < 0.05).
CONCLUSIONSRER+ colorectal cancers were found in young males and commonly located in the colon. A one third mutation rate in TGF-betaRII(A)(10) in these patients is lower than that observed in western populations, which may imply diverse pathways of carcinogenesis of RER+ colorectal carcinoma. TGF-betaRII(A)(10) mutation may play a role in the transforming process from an adenoma with severe dysplasia to a full blown carcinoma.
