SMAD4 haploinsufficiency in small intestinal neuroendocrine tumors.

ABSTRACT:

Background

Patients with small intestinal neuroendocrine tumors (SINETs) frequently present with lymph node and liver metastases at the time of diagnosis, but the molecular changes that lead to the progression of these tumors are largely unknown. Sequencing studies have only identified recurrent point mutations at low frequencies with CDKN1B being the most common harboring heterozygous mutations in less than 10% of all tumors. Although SINETs are genetically stable tumors with a low frequency of point mutations and indels, they often harbor recurrent hemizygous copy number alterations (CNAs) yet the functional implications of these CNA are unclear.

Methods

Utilizing comparative genomic hybridization (CGH) arrays we analyzed the CNA profile of 131 SINETs from 117 patients. Tw

SUBMITTER: Hofving T 

PROVIDER: S-EPMC7841913 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature