Resumo

ROSA, I. et al. Importância e caracterização do carcinoma gástrico em famílias com diagnóstico ou suspeita de síndroma de lynch. J Port Gastrenterol. [online]. 2008, vol.15, n.2, pp.56-62. ISSN 0872-8178.

Background: Lynch Syndrome (LS) is associated with an increased risk of colorectal cancer, but also of other tumours. It remains unsettled if gastric carcinoma (GC) should be included in this spectrum, especially when high-incidence countries for this tumour are considered. Aims: To study GC characteristics in LS families and to compare them with a group of sporadic GC. Methods: 25 patients with histological confirmation of GC, belonging to 20 LS families, were included in the present study. The families fulfilled: Amsterdam criteria (n=12); Bethesda criteria (n=2); Amsterdam criteria only if GC was considered (atypical LS - n=6). In the sporadic group, 58 consecutive patients with GC were included. Sex, age at GC diagnosis, tumour localization, histological type, differentiation and type of surgery were analyzed. In the LS group, mutational analysis for MLH1 and MSH2 was performed by DDGE/MLPA and direct sequencing. Results: GC patients in LS were younger and in these cases GC was more frequently detected at earlier stages, and more frequently submitted to curative surgery (p=0.045). Signet-ring cell carcinoma was more common in sporadic GC, while mucinous carcinoma was more frequent in LS (p=0.014). Genetic diagnosis was inconclusive in all atypical LS families studied and positive in 73% of the classical LS families tested (p=0.02). Other tumours of the LS spectrum were more commonly found in patients from families with identified mutations (p=0.002) and in no cases from atypical LS families (p=0.009). Conclusions: A subgroup of patients with GC and LS presented characteristics that strongly suggest GC inclusion in the LS tumour spectrum. In atypical LS families, the presence of GC does not seem to contribute for the diagnosis of this entity. It would be useful to find markers that could distinguish GC cases more likely to be associated with LS.

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