Featured
-
-
Article
| Open AccessGenomic and immune landscape Of metastatic pheochromocytoma and paraganglioma
The molecular mechanisms underlying metastasis in pheochromocytoma/paraganglioma (mPPGL) remain to be explored. Here, the authors perform genomic and immunogenomic profiling of mPPGL tumors and suggest potential biomarkers for risk of metastasis and immunotherapy response.
- Bruna Calsina
- , Elena Piñeiro-Yáñez
- & Mercedes Robledo
-
Article
| Open AccessSingle-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment
Pheochromocytomas and paragangliomas (PCPG) are rare neuroendocrine tumours. Here, the authors use single-nuclei and bulk-tissue RNA-seq to characterise PCPG tumours and their microenvironments and reveal molecular subtypes as well as expression patterns associated with metastasis.
- Magnus Zethoven
- , Luciano Martelotto
- & Richard W. Tothill
-
Article
| Open AccessSubtype heterogeneity and epigenetic convergence in neuroendocrine prostate cancer
Neuroendocrine carcinomas (NECs) arise from different anatomic sites, but have similar histological and clinical features. Here, the authors show that the epigenetic landscape of a range of NECs converges towards a common epigenetic state, while distinct subtypes occur within neuroendocrine prostate cancer contributing to intratumor heterogeneity in clinical samples.
- Paloma Cejas
- , Yingtian Xie
- & Henry W. Long
-
Article
| Open AccessThe genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets
Metastatic and locally-advanced neuroendocrine neoplasms (aNEN) display heterogeneous clinical and genetic characteristics. Here, the authors investigate the mutational landscape of 85 aNEN by whole genome sequencing and identify distinct subpopulations, tumour mutational burden patterns, drivers and actionable somatic alterations.
- Job van Riet
- , Harmen J. G. van de Werken
- & Bianca Mostert
-
Article
| Open AccessMUC1-C regulates lineage plasticity driving progression to neuroendocrine prostate cancer
MUC1-C is overexpressed in castration-resistant prostate cancer and neuroendocrine prostate cancer. Here, the authors show that MUC1-C drives lineage plasticity through MYC and BRN2, inducing neuroendocrine features and stemness in prostate cancer.
- Yota Yasumizu
- , Hasan Rajabi
- & Donald Kufe
-
Article
| Open AccessHIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease
Hypoxia inducible factor (HIF)-2α transcription factor is mutated in polycythemia and various neuroendocrine tumors. Here the authors present the crystal structure of a HIF-2α peptide bound to the pVHL-elongin B-elongin C (VBC) heterotrimeric complex and propose a classification scheme for HIF-2α mutations that helps to predict disease phenotype outcome.
- Daniel Tarade
- , Claire M. Robinson
- & Michael Ohh
-
Article
| Open AccessMulti-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas
Pheochromocytomas and paragangliomas (PCCs/PGLs) are rare neuroendocrine tumours with a significant genetic component. Here, the authors carry out a multi-omic integrative characterization of PCC/PGL and reveal potential genomic alterations and regulatory mechanisms involved in the disease.
- Luis Jaime Castro-Vega
- , Eric Letouzé
- & Anne-Paule Gimenez-Roqueplo
-
Article |
Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas
Pheochromocytomas and paragangliomas (PCC/PGL) are tumours of the autonomic nervous system. Here, the authors identify ATRX mutations in PCC/PGL and suggest that ATRXloss is important for tumorigenesis in a subset of PCC/PGL.
- Lauren Fishbein
- , Sanika Khare
- & Katherine L. Nathanson
-
Article
| Open AccessTargeting β-catenin signaling for therapeutic intervention in MEN1-deficient pancreatic neuroendocrine tumours
MEN1 gene encodes menin, a nuclear scaffold protein that regulates transcription and is often inactivated in pancreatic neuroendocrine tumours (PNETs). Here Jiang et al. show that MEN1-driven PNET development involves activation of β-catenin, and that β-catenin deletion ameliorates the disease.
- Xiuli Jiang
- , Yanan Cao
- & Guang Ning