Genomic characterization of a well-differentiated grade 3 pancreatic neuroendocrine tumor.
Cold Spring Harb Mol Case Stud
; 5(3)2019 06.
Article
em En
| MEDLINE
| ID: mdl-31160355
ABSTRACT
Pancreatic neuroendocrine neoplasms (PanNENs) represent a minority of pancreatic neoplasms that exhibit variability in prognosis. Ongoing mutational analyses of PanNENs have found recurrent abnormalities in chromatin remodeling genes (e.g., DAXX and ATRX), and mTOR pathway genes (e.g., TSC2, PTEN PIK3CA, and MEN1), some of which have relevance to patients with related familial syndromes. Most recently, grade 3 PanNENs have been divided into two groups based on differentiation, creating a new group of well-differentiated grade 3 neuroendocrine tumors (PanNETs) that have had a limited whole-genome level characterization to date. In a patient with a metastatic well-differentiated grade 3 PanNET, our study utilized whole-genome sequencing of liver metastases for the comparative analysis and detection of single-nucleotide variants, insertions and deletions, structural variants, and copy-number variants, with their biologic relevance confirmed by RNA sequencing. We found that this tumor most notably exhibited a TSC1-disrupting fusion, showed a novel CHD7-BEND2 fusion, and lacked any somatic variants in ATRX, DAXX, and MEN1.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Pancreáticas
/
Tumores Neuroendócrinos
/
DNA Helicases
/
Genômica
/
Proteínas de Ligação a DNA
/
Variações do Número de Cópias de DNA
/
Proteína 1 do Complexo Esclerose Tuberosa
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article