0000000000529841

AUTHOR

Marianna Di Piazza

Surgical treatment of primary gastrointestinal stromal tumors (GISTs): Management and prognostic role of R1 resections

Abstract Background Surgery represents the best treatment for primary gastrointestinal stromal tumors (GISTs). The aim of this study is to analyse outcomes of surgical management in order to evaluate the influence of microscopically R1 margins on survival and recurrence in patients affected by GISTs. Methods The study reviewed retrospective data from 74 patients surgically treated for primary GISTs without metastasis at diagnosis. Clinical and pathological findings, surgical procedures, information about follow up and outcomes were analyzed. Results Recurrence rate was low and no patients died in the R1 group during the follow up period. The difference in recurrence free survival for patien…

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MUTYH-associated tumor syndrome: The other face of MAP

MUTYH gene is involved in the base excision repair (BER) mechanism and its pathogenic alterations are associated with colorectal polyposis and cancer. MUTYH-associated polyposis (MAP) is a condition which is inherited in an autosomal recessive manner. MAP patients, beyond colorectal cancer (CRC), may develop other types of tumors, including duodenal, breast, ovarian, pancreatic, bladder and skin cancers. Carriers of biallelic MUTYH likely pathogenic/pathogenic variants exhibit a high lifetime risk of CRC, though cancer risk evidence becomes less clear when monoallelic carriers and extraintestinal tumors are considered. However, several studies recently reported an increased genetic suscepti…

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