TY - JOUR
T1 - Inherited multitumoral syndromes including colorectal carcinoma
AU - Cetta, F.
AU - Dhamo, A.
PY - 1800
Y1 - 1800
N2 - Inherited multitumoral syndromes including colorectal carcinoma are the followings: familial adenomatous polyposis (FAP), hereditary non-polyposis colon cancer (HNPCC) and Peutz-Jeghers syndrome (PJS). The studies of genotype-phenotype correlation have shown that various types of colonic polyposis are related with germline mutation of adenomatous polyposis coli (APC) gene, that is also responsible for a wide number of extracolonic manifestations. Concerning severity of polyposis, it has been suggested to perform ileorectal anastomosis in patients with intermediate FAP, whereas it has been suggested to remove the rectum from the beginning and to perform ileopouch anastomosis in patients with severe FAP (germline APC mutations between codons 1250 and 1464, i.e. mutation cluster region-MCR). Concerning extracolonic manifestations, original studies from our laboratory have shown that three peculiar, even if unusual extracolonic manifestations of FAP, were in the 5′ portion of the gene, but almost always outside of MCR. In particular, in some patients or in some kindreds all these manifestations may be present together. It is suggested, from one hand, because of the wide variety of genotype-phenotype correlation word of caution before selecting surgical treatment simply on the basis of the germline mutations, on the other hand co-segregation of some extracolonic manifestations could facilitate intensive screening, early diagnosis and optimal time for treatment.
AB - Inherited multitumoral syndromes including colorectal carcinoma are the followings: familial adenomatous polyposis (FAP), hereditary non-polyposis colon cancer (HNPCC) and Peutz-Jeghers syndrome (PJS). The studies of genotype-phenotype correlation have shown that various types of colonic polyposis are related with germline mutation of adenomatous polyposis coli (APC) gene, that is also responsible for a wide number of extracolonic manifestations. Concerning severity of polyposis, it has been suggested to perform ileorectal anastomosis in patients with intermediate FAP, whereas it has been suggested to remove the rectum from the beginning and to perform ileopouch anastomosis in patients with severe FAP (germline APC mutations between codons 1250 and 1464, i.e. mutation cluster region-MCR). Concerning extracolonic manifestations, original studies from our laboratory have shown that three peculiar, even if unusual extracolonic manifestations of FAP, were in the 5′ portion of the gene, but almost always outside of MCR. In particular, in some patients or in some kindreds all these manifestations may be present together. It is suggested, from one hand, because of the wide variety of genotype-phenotype correlation word of caution before selecting surgical treatment simply on the basis of the germline mutations, on the other hand co-segregation of some extracolonic manifestations could facilitate intensive screening, early diagnosis and optimal time for treatment.
KW - Brain tumors
KW - Familial adenomatous polyposis
KW - Multitumoral syndromes
KW - Papillary thyroid carcinoma
KW - Primary liver tumor
UR - http://www.scopus.com/inward/record.url?scp=36649020481&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=36649020481&partnerID=8YFLogxK
U2 - 10.1016/j.suronc.2007.10.013
DO - 10.1016/j.suronc.2007.10.013
M3 - Article
C2 - 18063360
AN - SCOPUS:36649020481
JO - Surgical Oncology
JF - Surgical Oncology
SN - 0960-7404
ER -