Abstract
Despite prognostic grading and staging systems, it is a challenge to predict outcomes for patients with pancreatic neuroendocrine tumors (PanNETs). Sequencing studies of PanNETs have identified alterations in death domain-associated protein (DAXX) and alpha-thalassemia/mental retardation X-linked chromatin remodeler (ATRX). In tumors, mutations in DAXX or ATRX and corresponding loss of protein expression correlate with shorter times of disease-free survival and disease-specific survival of patients. However, DAXX or ATRX proteins were lost in only 50% of distant metastases analyzed. We performed whole-exome sequencing analyses of 20 distant metastases from 20 patients with a single nonsyndrome, nonfunctional PanNET. We found distant metastases contained alterations in multiple endocrine neoplasia type 1 (MEN1) (n = 8), ATRX (n = 5), DAXX (n = 5), TSC2 (n = 3), and DEP domain containing 5 (DEPDC5) (n = 3). We found copy number loss of cyclin dependent kinase inhibitor 2A (CDKN2A) in 15 metastases (75%) and alterations in genes that regulate chromatin remodeling, including set domain containing 2 (SETD2) (n = 4), AT-rich interaction domain 1A (ARID1A) (n = 2), chromodomain helicase DNA binding protein 8 (CHD8) (n = 2), and DNA me...Continue Reading
Citations
Aug 31, 2018·AJR. American Journal of Roentgenology·Jonathan M McGovernAnil K Dasyam
Jan 17, 2019·Thyroid : Official Journal of the American Thyroid Association·Marina N NikiforovaYuri E Nikiforov
Jul 2, 2019·The American Journal of Surgical Pathology·Michaël NoëLodewijk A A Brosens
Nov 19, 2019·Expert Review of Anticancer Therapy·Lingaku LeeRobert T Jensen
Jul 14, 2019·Gut·Ningning NiuJing Xue
Aug 30, 2019·Gut·Xiafei HongWenming Wu
Nov 7, 2019·Oncotarget·Jun GongAndrew E Hendifar
Sep 15, 2020·JCO Precision Oncology·Virian D SereiGregory Riedlinger
Jul 16, 2020·Cancers·Laura StreitStéphane Gasman
Oct 3, 2020·Virchows Archiv : an International Journal of Pathology·Marco Schiavo LenaClaudio Doglioni
Jul 28, 2020·BMC Cancer·Yue ZhaoHui Bu
Aug 2, 2019·Reviews in Endocrine & Metabolic Disorders·Gitta BoonsKen Op de Beeck
Feb 28, 2020·Endocrine Pathology·Wenzel M HackengLodewijk A A Brosens
Apr 14, 2020·Pancreas·Xu HanXuefeng Xu
Dec 11, 2019·Scientific Reports·Mauro CivesFranco Silvestris
Jan 19, 2021·Endocrine Pathology·Sylvia L AsaAshley B Grossman
Feb 5, 2021·Communications Biology·Vanessa LakisAldo Scarpa
Mar 15, 2021·Journal of Cancer Research and Clinical Oncology·Corey M GillRaj K Shrivastava
Mar 20, 2021·Frontiers in Oncology·Zaoqu LiuXinwei Han
Aug 7, 2018·Human Pathology·Angela ChouAnthony J Gill
Apr 15, 2021·Gut·Wenzel M HackengAatur D Singhi
Mar 13, 2019·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Sébastien Gaujoux
Jul 6, 2021·Frontiers in Endocrinology·Fei WangShunrong Ji
Jul 10, 2021·Cancer Cytopathology·Christopher M Heaphy, Christopher J VandenBussche
Jul 31, 2021·Nature Communications·Job van RietBianca Mostert
Mar 5, 2021·Journal of Gastrointestinal Surgery : Official Journal of the Society for Surgery of the Alimentary Tract·Eduardo A VegaClaudius Conrad
Oct 4, 2018·Neuroendocrinology·Robert T JensenUNKNOWN ENETS 2016 Munich Advisory Board Participants
Jan 1, 2022·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Orhun Cig TaskinVolkan Adsay