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Microsatellite instability in multiple colorectal tumors
Author(s) -
Pedroni Monica,
Tamassia Maria Grazia,
Percesepe Antonio,
Roncucci Luca,
Benatti Piero,
Lanza Giovanni,
Gafà Roberta,
Di Gregorio Carmela,
Fante Rossella,
Losi Lorena,
Gallinari Luca,
Scorcioni Francesca,
Vaccina Fabiana,
Rossi Giuseppina,
Cesinaro Anna Maria,
Ponz de Leon Maurizio
Publication year - 1999
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/(sici)1097-0215(19990331)81:1<1::aid-ijc1>3.0.co;2-k
Subject(s) - microsatellite instability , colorectal cancer , dna mismatch repair , rectum , cancer , population , medicine , lynch syndrome , microsatellite , oncology , biology , pathology , cancer research , genetics , gene , allele , environmental health
Tumor multiplicity is a hallmark of hereditary cancers: in the colon‐rectum multiple tumors represent 5–10% of all colorectal cancer cases. A portion of these cases belongs to hereditary non‐polyposis colorectal cancer (HNPCC), a genetic cancer syndrome due to mismatch repair (MMR) gene mutations, phenotypically expressed as microsatellite instability (MSI); the majority of multiple tumors, however, is apparently without any family history. We analyzed 78 (38 synchronous and 40 metachronous) neoplasms from 37 patients with multiple tumors of the large bowel, both HNPCC and sporadic, with the aim of identifying a common genetic basis in multiple tumors. DNA was extracted from normal and cancerous formalin‐fixed tissue and was analyzed for MSI using 6 markers. Tumors showing MSI in at least 2 of 6 microsatellite loci were defined as MSI(+). The overall number of MSI(+) tumors was 22 (28.2% of the total). A significant difference in the rate of MSI(+) between HNPCC and sporadic tumors was observed (85% vs. 17%). In the same patients, the MSI phenotype of synchronous tumors (both HNPCC and sporadic) tended to be more concordant than that of the metachronous ones. The higher frequency of MSI in HNPCC than in sporadic tumors, even when multiple, suggests that the involvement of MMR genes in the pathogenesis of the sporadic cases may be uncommon, thus confirming that screening for MSI in multiple colorectal tumors could be a useful tool in the identification of HNPCC in the general population. Int. J. Cancer 81:1–5, 1999. © 1999 Wiley‐Liss, Inc.