Publications by authors named "M Scardoni"
Purpose: Data regarding the clinical management and follow-up of pancreatic neuroendocrine tumors (PanNETs) associated with Von Hippel-Lindau (VHL) syndrome are limited. This study aimed to assess clinical presentation, genotype-phenotype correlations, treatment and prognosis of PanNETs in a series of VHL syndrome patients.
Methods: Retrospective analysis of data of patients observed between 2005 and 2020.
Article Synopsis
- - The rise in diagnoses of pancreatic neuroendocrine tumors (PanNETs) is largely due to improved detection methods, posing new challenges for treatment management.
- - Whole-genome sequencing of 102 primary PanNETs revealed key genomic events, including a mutation in the MUTYH gene that impairs DNA repair, which is linked to several germline mutations found in 17% of patients.
- - Somatic mutations affecting genes related to chromatin remodeling, DNA repair, mTOR signaling, and telomere maintenance were common, and some tumors exhibited unique characteristics associated with hypoxia and HIF signaling.
Background: Genetic screening in families with high risk to develop colorectal cancer (CRC) prevents incurable disease and permits personalized therapeutic and follow-up strategies. The advancement of next-generation sequencing (NGS) technologies has revolutionized the throughput of DNA sequencing.
Methods: A series of 16 probands for either familial adenomatous polyposis (FAP; 8 cases) or hereditary nonpolyposis colorectal cancer (HNPCC; 8 cases) were investigated for intragenic mutations in five CRC familial syndromes-associated genes (APC, MUTYH, MLH1, MSH2, MSH6) applying both a custom multigene Ion AmpliSeq NGS panel and conventional Sanger sequencing.
Background: Mixed adenoneuroendocrine carcinomas (MANECs) of the gastrointestinal tract are rare neoplasms characterized by coexisting exocrine and neuroendocrine neoplastic components. MANECs' histogenetic classification and molecular characterization remain unclear, significantly affecting the identification of innovative therapeutic options for these tumors.
Methods: The exocrine and neuroendocrine components of 6 gastrointestinal MANECs were microdissected and subjected to the simultaneous mutation assessment in selected regions of 54 cancer-associated genes using Ion Torrent semiconductor-based next-generation sequencing.