Desmoid tumor: a disease opportune for molecular insights

摘要: Desmoid tumors are monoclonal proliferations that fall within a broad histologic spectrum of fibrous mesenchymal ranges from benign scar tissue to high-grade fibrosarcomas. These low-grade extremely infiltrative locally, but lack the ability metastasize systemically. While they only rarely direct cause mortality, using current therapeutic modalities, these have high rate local recurrence can result in significant treatment related morbidity. Sporadic desmoids usually associated with somatic mutations codons 41 or 45 exon 3 beta-catenin (CTNNB1). occurring background familial adenomatous polyposis (FAP) contain inactivating germline coli (APC) gene. CTNNB1 and APC part Wnt signaling pathway either gene stabilization protein allow nuclear translocation binding T-cell factor/lymphoid enhancer factor (TCF/Lef) family transcription factors, resulting activation target genes which may underlie desmoid tumor biology clinical behavior. In an era molecularly targeted therapeutics there is real need better grasp molecular mechanisms behind tumorigenesis progression. This knowledge will eventually development patient tailored therapies assist control eradication this disease.