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Molecular characterization of desmoid tumors


Desmoid tumors are mesenchymal fibroblastic proliferations that despite the absolute lack of ability to metastasize are extremely locally invasive. Previous studies reported that sporadic desmoids are usually associated with somatic mutations in b-catenin (CTNNB1) and that desmoid tumors occurring in the background of familial adenomatous polyposis (FAP) usually contain inactivating germline mutations in the adenomatous polyposis coli (APC) gene. Also, some reports related that chromosome aberrations are a common feature present in 46% of desmoid tumors. However, the biologic mechanisms of desmoid growth are poorly understood, once it has not been extensively studied on the molecular level. Our aim is analyze the spectrum of genetic alterations in desmoid tumors comparing sporadic desmoids and desmoids associated with FAP. Twelve desmoid tumors will be analyzed by massive parallel sequencing (exome). Our cases will be from our tumor Bank, therefore DNA will be extracted from frozen tumor tissue. For exome, DNA will be captured by hybridization in solution to cRNA oligonucleotide baits and subjected to emulsion PCR performed by 35 cycles of amplification and sequencing by a SOLiD" instrument. Resulting sequences will be analyzed using freely available software. Automatic sequencing will be performed to confirm alterations identified via exome sequencing. Statistical analysis will be carried out using SPSS 13.00. The association between the alterations will be determined by chi-square tests, assuming a significance level of 5% (P <0.05). In an era of molecular targeted therapeutics the investigation of molecular mechanisms behind desmoid tumorigenesis and progression became crucial. The knowledge of new genetic alterations related to desmoid carcinogenesis could result in the development of therapies really efficient, which could also assist in the control and eradication of this disease (AU)

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