Small Bowel Neuroendocrine Tumors (Carcinoid Tumors)

The diagnosed incidence of small bowel neuroendocrine tumors (NETs) is increasing. While patients with localized disease can be treated surgically, those with metastatic disease currently have few treatment options. The success of biologically targeted therapies in other malignancies has led to interest in the molecular alterations underlying the pathogenesis of these NETs. To identify genetic aberrations in small bowel NETs, we generated copy number profiles from 31 primary and metastatic tumors, performed a high-throughput mutation screen on 43 archival small bowel NETs, and performed exome sequencing on a subset of 23 tumors. The global genetic landscape of small bowel NETs is relatively quiet. Consistent with previous studies, the overwhelming majority of tumors were characterized by loss of chromosome 18 and, to a lesser extent, other chromosome arm gains and losses. In stark contrast to arm-level alterations, recurrent high-level focal amplifications... (for more see dbGaP study page.)