Prevalence and prognostic role of microsatellite instability in patients with rectal carcinoma

M. Amoruso, M. Colombino, A. Margari, A. Cossu, G. M. Bonomo, A. Manca, M. Castriota, M. F. Dedola, M. Giordano, F. Tanda, F. Scintu, G. Palmieri, A. Curci, A. Avallone, G. Comella

Research output: Contribution to journalArticlepeer-review


Background: Association between microsatellite instability (MSI) and favorable postoperative survival in patients with colorectal cancer receiving adjuvant chemotherapy has been indicated. To evaluate whether an analogous positive prognostic role of MSI could be present in rectal carcinoma (RC; most RC patients receive adjuvant radiotherapy), PCR-based microsatellite analysis of archival RCs and statistical correlation with clinico-pathological parameters were performed. Patients and methods: DNA from paraffin-embedded paired samples of tumors and corresponding normal tissue from 91 RC patients was analyzed for MSI using five microsatellite markers (tumors were classified as MSI + when two or more markers were unstable). Results: Seventeen (19%) RC patients exhibited a MSI + phenotype. Prevalence of instability was found in patients with earlier RC onset (28% in cases with diagnosis age ≤55 years versus 15% in cases >55 years), whereas similar MSI frequencies were observed in patients with different disease stage or receiving different adjuvant therapies. While MSI was detected in seven (64%) of 11 familial patients, a remarkably lower MSI incidence was observed in sporadic cases (10/80; 12.5%). A significant association with better disease-free survival (DFS) and overall survival (OS) was found for MSI + patients (median DFS/OS, 30/32 months) in comparison to MSI - ones (median DFS/OS, 18/21 months) (P

Original languageEnglish
Pages (from-to)1447-1453
Number of pages7
JournalAnnals of Oncology
Issue number9
Publication statusPublished - Sep 2002


  • Microsatellite instability
  • Polymerase chain reaction
  • Prognosis
  • Rectal cancer

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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