ArticleCancer cell2017
Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.
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Article in Cancer cell, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 471 papers, 4 of them syntheses that pooled it.
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471citing papers in PubMed, 4 pooled it
64.2field-weighted citation impact, top 1% of its field
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Who cites it
471 citing papers in PubMed, 4 syntheses or guidelines pooled it, 762 citations in OpenAlex.
- Tumor Necrosis is Associated with an Increased Metastatic and Cardiovascular Risk in Paragangliomas: A Single-Center Series and Meta-Analysis Comparing Necrosis and Cystic Degeneration in Paragangliomas.Endocrine pathology · 2026Pooled it
- Metastatic Disease in Phaeochromocytomas and Paragangliomas in Various Genotypes-A Systematic Review and Meta-analysis.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Japan Endocrine Society Clinical Practice Guideline for the Diagnosis and Management of Pheochromocytoma and Paraganglioma 2025.Endocrine journal · 2026Guideline
- Pheochromocytoma metastasis to the central nervous system: a case report and systematic review.Frontiers in endocrinology · 2025Pooled it
- Synergistic antitumor effects of 5-fluorouracil and vorinostat in preclinical models of pheochromocytomas and paragangliomas.Endocrine · 2026Article
- Pheochromocytoma presenting with hyperosmolar hyperglycemic state and transient stroke-like deficits.JCEM case reports · 2026Article
- Genotype-dependent [European journal of nuclear medicine and molecular imaging · 2026Article
- [Hereditary neuroendocrine neoplasms].Pathologie (Heidelberg, Germany) · 2026Review
- Paraganglioma of the Lumbar Spine: A Case Report.Cureus · 2026Article
- Plasma proteomic profiling in dogs with pheochromocytoma.Journal of veterinary internal medicine · 2026Article
- PPGLomics: an interactive platform for pheochromocytoma and paraganglioma transcriptomics.Endocrine-related cancer · 2026Article
- Neuroendocrine Neoplasms of the Urinary Bladder: Integrating Molecular Advances into a Refined Classification System.Endocrine pathology · 2026Review
- Comprehensive Genomic Analysis in Hereditary Adrenal and Extra-Adrenal Paragangliomas.Endocrine pathology · 2026Article
- Sellar region neurocytomas exhibit a CIMP and neuroendocrine-like epigenetic signature distinct from other intra-axial neurocytomas.Acta neuropathologica · 2026Article
- Clinicopathological Features, Tumor Localization and Treatment Outcomes in Paraganglioma: A Single-Center Medical Oncology Cohort.Diagnostics (Basel, Switzerland) · 2026Article
- Biomarkers of metastatic disease in pheochromocytoma and paraganglioma.Endocrine connections · 2026Article
- A pre-trained large generative model for translating single-cell transcriptomes to proteomes.Nature biomedical engineering · 2026Article
- Genetic alterations of telomere maintenance pathways in paragangliomas.Archives of endocrinology and metabolism · 2026Article
- Systemic management of adrenal malignancies: adrenocortical carcinoma and pheochromocytoma/paraganglioma.Endocrine connections · 2026Article
- Kidney-specific HIF-1α-dependent ARL10/miR-1271-5p overexpression in clear cell renal cell carcinoma.British journal of cancer · 2026Article
411 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 15 institutions in 4 countries.
Lauren FishbeinDivision of Endocrinology, Diabetes and Metabolism, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Ignaty LeshchinerThe Eli and Edythe L. Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02142, USA.
Vonn WalterLineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Ludmila DanilovaThe Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University, Baltimore, MD 21287, USA.
A Gordon RobertsonCanada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC V5Z 4S6, Canada.
Amy R JohnsonDepartment of Nutrition, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Tara M LichtenbergThe Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, USA.
Bradley A MurrayThe Eli and Edythe L. Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA 02142, USA.
Hans K GhayeeDivision of Endocrinology & Metabolism, Department of Medicine, University of Florida College of Medicine & Malcom Randall VA Medical Center, Gainesville, FL 32608, USA.
Tobias ElseDivision of Metabolism, Endocrinology, & Diabetes, Department of Internal Medicine, University of Michigan Health System, Ann Arbor, MI 48109, USA.
Shiyun LingUniversity of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Stuart R JefferysLineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Aguirre A de CubasLineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Division of Hematology and Oncology, Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Brandon WenzDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Esther KorpershoekDepartment of Pathology, Erasmus MC University Medical Center Rotterdam, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.
Antonio L AmelioLineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Liza MakowskiLineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Nutrition, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
W Kimryn RathmellLineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Division of Hematology and Oncology, Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Anne-Paule Gimenez-RoqueploINSERM, UMR970, Paris-Cardiovascular Research Center, F-75015 Paris, France.
Thomas J GiordanoDepartment of Pathology, University of Michigan Health System, Ann Arbor, MI 48109, USA.
Sylvia L AsaDepartment of Pathology, University Health Network, Toronto, ON M5G 2C4, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5G 2C4, Canada.
Arthur S TischlerDepartment of Pathology and Laboratory Medicine, Tufts Medical Center, Boston, MA 02111, USA.
Cancer Genome Atlas Research Network
Karel PacakSection on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA. Electronic address: karel@mail.nih.gov.
Katherine L NathansonDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: knathans@exchange.upenn.edu.
Matthew D WilkersonLineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address: mdwilkerson@outlook.com.
University of North Carolina at Chapel Hill · USUniversity of Pennsylvania · USBC Cancer Agency · CABroad Institute · USThe University of Texas MD Anderson Cancer Center · USInserm · FRJohns Hopkins University · USNationwide Children's Hospital · USUniversity of Florida · USUniversity of Michigan · USErasmus MC · NLEunice Kennedy Shriver National Institute of Child Health and Human Development · USMichigan Medicine · USTufts Medical Center · USUniversity Health Network · CA
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MLarge Scale Genome SequencingU54HG003079 · NHGRI · WASHINGTON UNIVERSITY · PI DUTCHER, SUSAN K · 2004 to 2016
$445.7MThe Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MTumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Scott Kopetz · 1985 to 2026
$290.8MDiagnosis, Pathophysiology And Molecular Biology of Pheochromocytoma and ParagangliomaZIAHD008735 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI PACAK, KAREL · 2009 to 2024
$28.4MGene Expression Patterns in Human Tumors Identified Using Transcript SequencingU24CA143848 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAYES, DAVID N, PEROU, CHARLES M · 2009 to 2016
$20.8MGenome Characterization Center (GCC)U24CA143867 · NCI · BROAD INSTITUTE, INC. · PI GABRIEL, STACEY, MEYERSON, MATTHEW L. · 2009 to 2016
$17.0MThe Cancer Genome Atlas Data Analysis CenterU24CA143845 · NCI · BROAD INSTITUTE, INC. · PI CHIN, LYNDA, GETZ, GAD A · 2009 to 2016
$16.0MHarvard Genome Characterization CenterU24CA144025 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI KUCHERLAPATI, RAJU S. · 2009 to 2016
$14.0MThe USC-JHU Cancer Epigenome Characterization CenterU24CA143882 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BAYLIN, STEPHEN B., WEISENBERGER, DANIEL JOSEPH · 2009 to 2016
$13.3MMSKCC Center for Translational Cancer Genomic AnalysisU24CA143840 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI LADANYI, MARC, SANDER, CHRIS · 2009 to 2016
$11.5MCancer transcriptome characterization using massively parallel DNA sequencingU24CA143866 · NCI · BRITISH COLUMBIA CANCER AGENCY · PI MARRA, MARCO ANTONIO · 2009 to 2015
$10.9MNCI NIH HHS P30 CA016672NCI NIH HHS R00 CA157954NCI NIH HHS T32 CA009582NCI NIH HHS U24 CA143799NCI NIH HHS U24 CA143835NCI NIH HHS U24 CA143840NCI NIH HHS U24 CA143843NCI NIH HHS U24 CA143845NCI NIH HHS U24 CA143848NCI NIH HHS U24 CA143858NCI NIH HHS U24 CA143866NCI NIH HHS U24 CA143867NCI NIH HHS U24 CA143882NCI NIH HHS U24 CA143883NCI NIH HHS U24 CA144025NCI NIH HHS U24 CA180951NCI NIH HHS U24 CA199461NCI NIH HHS U24 CA210949NCI NIH HHS U24 CA210950NCI NIH HHS U24 CA210974NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003079NHGRI NIH HHS U54 HG003273
Abstract
We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC/PGL susceptibility genes. We identified CSDE1 as a somatically mutated driver gene, complementing four known drivers (HRAS, RET, EPAS1, and NF1). We also discovered fusion genes in PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1. Integrated analysis classified PCCs/PGLs into four molecularly defined groups: a kinase signaling subtype, a pseudohypoxia subtype, a Wnt-altered subtype, driven by MAML3 and CSDE1, and a cortical admixture subtype. Correlates of metastatic PCCs/PGLs included the MAML3 fusion gene. This integrated molecular characterization provides a comprehensive foundation for developing PCC/PGL precision medicine.
Indexed as
AdultAgedAged, 80 and overDNA-Binding ProteinsFemaleGene FusionHumansMaleMiddle AgedMutationNuclear ProteinsParagangliomaPheochromocytomaPol1 Transcription Initiation Complex ProteinsProto-Oncogene Proteins c-retRNA-Binding ProteinsCSDE1 protein, humanDNA-Binding ProteinsMAML3 protein, humanNuclear ProteinsPol1 Transcription Initiation Complex ProteinsProto-Oncogene Proteins c-retRET protein, humanRNA-Binding ProteinsTrans-ActivatorsTranscription Factorstranscription factor UBFCSDE1expression subtypesgenomicsMAML3metastasismolecular profilingparagangliomapheochromocytomasequencingTCGA
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.