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Somatic HIF2A Gain-of-Function Mutations in Paraganglioma with Polycythemia
Open accessAbstract
Sum m a r yHypoxia-inducible factors are transcription factors controlling energy, iron metabolism, erythropoiesis, and development.When these proteins are dysregulated, they contribute to tumorigenesis and cancer progression.However, mutations in genes encoding α subunits of hypoxia-inducible factors (HIF-α) have not previously been identified in any cancer.Here we report two novel somatic gain-of-function mutations in the gene encoding hypoxia-inducible factor 2α (HIF2A) in two patients, one presenting with paraganglioma and the other with paraganglioma and somatostatinoma, both of whom had polycythemia.The two mutations were associated with increased HIF-2α activity and increased protein half-life.H ypoxia-inducible factors, originally described by Wang et al., 1 are transcription factors that respond to changes in tissue oxygen concentration.These highly conserved proteins are composed of α and β subunits.The HIF-β subunit is constitutively expressed, whereas the α subunits are inducible by hypoxia and are associated with aggressive, treatment-refractory tumors.2,3 Under normoxic conditions, HIF-1α, HIF-2α, and HIF-3α are hydroxylated on specific prolyl residues, allowing for recognition by the von Hippel-Lindau (VHL) tumorsuppressor protein, ubiquitination, and rapid degradation through the proteasome.4 Under hypoxic conditions, prolyl hydroxylation of HIF-α proteins is reduced, resulting in their stabilization and, in turn, transcription of genes involved in the hypoxia response, including angiogenesis, glycolysis, apoptosis, proliferation, and growth.5,6 Paragangliomas and pheochromocytomas are catecholamine-producing tumors derived from the chromaffin cells of extraadrenal paraganglia and the adrenal medulla.7 The pioneering work of Neumann et al. 8 showed that about one fourth of these tumors were hereditary, a fraction that was subsequently estimated to be closer to one third, on the basis of the identification of mutations in several additional genes, including SDHA, SDHAF2, TMEM127, and MAX. 9 The identification of these genetic drivers led to the demonstration of HIF-α stabilization and dysregulation in paragangliomas and pheochromocytomas harboring mutations in VHL and succinate dehydrogenase (SDH).10,11 Somatostatinomas are somatostatin-producing neuroendocrine tumors believed to originate from neural-crest cells.They are occasionally diagnosed in patients with the VHL syndrome, multiple endocrine neoplasia type 1 or 2, or neurofibromatosis type 1. 12
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“Somatic gain-of-function mutations in HIF2A have been discovered in pheochromocytomas and paragangliomas (Zhuang et al., 2012;Comino-Mendez et al., 2013;Lorenzo et al., 2013;Taieb et al., 2013;Toledo et al., 2013;Yang et al., 2013), while high HIF-2α expression is associated with poor survival in patients with neuroblastoma (Holmquist-Mengelbier et al., 2006).”
From Therapeutic targeting of hypoxia and hypoxia-inducible factors in cancer (2016) · cites this paper as Zhuang et al., 2012
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Wang, G. L., Jiang, B. H., Rue, E. A., & Semenza, G. L. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.12.5510 · Cited by 6,212
Targeting Hypoxia-Inducible Factors for the Treatment of Anemia in Chronic Kidney Disease Patients
Locatelli, F., Fishbane, S. N., Block, G. A., & Macdougall, I. C. (2017) · American Journal of Nephrology · doi:10.1159/000455166 · Cited by 4,836
Oxygen sensing by metazoans: the central role of the HIF hydroxylase pathway.
Kaelin, W. G., & Ratcliffe, P. J. (2008) · Molecular Cell · doi:10.1016/j.molcel.2008.04.009 · Cited by 3,251
A conserved family of prolyl-4-hydroxylases that modify HIF
Bruick, R. K., & McKnight, S. L. (2001) · Science · doi:10.1126/science.1066373 · Cited by 2,549
HIF1α and HIF2α: sibling rivalry in hypoxic tumour growth and progression
Keith, B., Johnson, R. S., & Simon, M. C. (2012) · Nature Reviews Cancer · doi:10.1038/nrc3183 · Cited by 1,693
Lenders, J. W. M., Eisenhofer, G., Mannelli, M., & Pacák, K. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67139-5 · Cited by 1,541
Hypoxia-inducible factors: mediators of cancer progression and targets for cancer therapy
Semenza, G. L. (2012) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2012.01.005 · Cited by 1,514
Differential Roles of Hypoxia-Inducible Factor 1α (HIF-1α) and HIF-2α in Hypoxic Gene Regulation
Hu, C.-J., Wang, L.-Y., Chodosh, L. A., Keith, B., & Simon, M. C. (2003) · Molecular and Cellular Biology · doi:10.1128/mcb.23.24.9361-9374.2003 · Cited by 1,386
The impact of O2 availability on human cancer
Bertout, J. A., Patel, S. A., & Simon, M. C. (2008) · Nature Reviews Cancer · doi:10.1038/nrc2540 · Cited by 1,365
Germ-Line Mutations in Nonsyndromic Pheochromocytoma
Neumann, H. P. H., Bausch, B., McWhinney, S. R., Bender, B., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., et al. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa020152 · Cited by 1,350
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Research works printed but not linked: 3
- Vinik AI, 1987, Semin Oncol, 14, 263
- Morris MR, 2009, Anticancer Res, 29, 4337
- Prchal JT, 2008, N Engl J Med, 358, 1966
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Yarbrough, D., Chen, R., Katsouleas, K., Shoemaker, J., Brady, T., Yu, T., Ataam, J. A., Amelung, C. D., Santhanam, L., Karakikes, I., et al. (2026) · Advanced Functional Materials · doi:10.1002/adfm.76324 · Cited by 3
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A Young Patient with Undiagnosed Polycythemia-Paraganglioma Syndrome: A Case Report
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Repair of retrohepatic inferior vena cava injury.
Chaudhry, A. K., Azam, M., & Maqsood, R. (2003) · PubMed · Cited by 2
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van Alfen, S. J., van der Tuin, K., van de Kooij, B., Links, T. P., & Zandee, W. T. (2026) · Familial Cancer · doi:10.1007/s10689-026-00579-8 · Cited by 1
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Goncalves, P. D., & Sadow, P. M. (2026) · Advances in Anatomic Pathology · doi:10.1097/pap.0000000000000528 · Cited by 1
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Vícha, A., & MERCADO-ASIS, L. B. (2014) · Endocrine Practice · doi:10.4158/endp.20.11.g37v757188j41v24 · Cited by 1
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Guelho, D., Trifu, D. S., Cranston, T., Forfar, C., Karavitaki, N., & Grossman, A. B. (2015) · AACE Clinical Case Reports · doi:10.4158/ep14554.cr · Cited by 1
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Ghazi, A. A., Khah, A. M., Kamani, F., Zare, K., Sadeghipour, A., Hedayati, M., Yeganeh, M. Z., Cranston, T., & Grossman, A. B. (2014) · HORMONES · doi:10.14310/horm.2002.1500
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Deng, J., Zhang, X., Zhang, Y., WeiGang, Y. A. N., Li, H., & Ji, Z. (2021) · Scientia Sinica Vitae · doi:10.1360/ssv-2021-0173
Familial Syndromes and Genetic Causes of Paraganglioma and Phaeochromocytoma
Maher, E. R., & Casey, R. T. (2022) · doi:10.1093/med/9780198870197.003.0119
Wass, J. A. H. (2022) · doi:10.1093/med/9780198870197.003.0115
Heneghan, H., & Prichard, R. S. (2017) · InTech eBooks · doi:10.5772/67373
Zibari, G. B., Sanders, M., & Shokouh-Amiri, H. M. (2014) · Springer eBooks · doi:10.1007/978-1-4939-1423-4_14
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Tsoli, M., Kaltsas, G., & Chrousos, G. P. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.98818-4
van Berkel, A., & Lenders, J. W. M. (2014) · International Journal of Endocrine Oncology · doi:10.2217/ije.14.17
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Eckardt, L., Prange‐Barczynska, M., Hodson, E. J., Fielding, J. W., Cheng, X., Lima, J. D. C. C., Kurlekar, S., Douglas, G., Ratcliffe, P. J., & Bishop, T. (2022) · Endocrine Abstracts · doi:10.1530/endoabs.86.ja3
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Wang, S., & Zhang, P. (2023) · Disease Markers · doi:10.1155/2023/6072782
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Diagnosis, management, and outcomes of tumor-associated erythrocytosis
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Wang, X., Shi, X., Wang, W., Yang, G., & Zou, L. (2015) · Acta Neurologica Belgica · doi:10.1007/s13760-015-0498-9
Wilk, B. M., Gajapathy, M., Brown, D. M., Duncan, V. E., & Worthey, E. A. (2026) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-026-04228-2
Caulier, A. (2020) · theses.fr (ABES) · doi:10.70675/be1fe49bz54d1z42eaz98acze40f1fd3fc55
Impact des mutations SDH sur la réponse antitumorale et identification de nouveaux biomarqueurs
Lamy, C. (2021) · theses.fr (ABES) · doi:10.70675/036f6787z50daz43e6zbeafzbcebfb700048
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Neal, S. V., Sommer, S. L., Golconda, S., Hostnik, E. T., Sakacs, R., Park, J., Potts, A., da Costa, R. C., Premanandan, C., Corps, K., et al. (2026) · Veterinary Clinical Pathology · doi:10.1111/vcp.70112
Gregor, T., Karakaya, S., Zethraeus, A., Ostenberg, S., Fredlund, E., Hammarlund, E. U., Hansson, J., Rosenblum, J., & Mohlin, S. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.05.04.722697
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Batanero, C. (2014) · Elsevier eBooks · doi:10.1016/b978-84-9022-538-7.00014-9
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Vanoli, A., Travaglino, E., Inzani, F. S., Orione, T., Grillo, F., Parente, P., Spaggiari, P., Uccella, S., Zerbi, A., Milanetto, A. C., et al. (2026) · Endocrine Pathology · doi:10.1007/s12022-026-09934-y
Abu-Zeinah, G. F., Hobbs, G. S., Rampal, R. K., Lee, S., Gill, H., Komrokji, R. S., Tashi, T., Bose, P., Mascarenhas, J. O., Yacoub, A., et al. (2026) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-026-00790-5
Self-citationPacak-Zhuang syndrome with EPAS1 p.Pro531Leu somatic variant: one case report and literature review
Xiazhe, L., Song, S., Wang, L., Zhong, Z., Qi, Y., & Gong, Y. (2026) · Hematology · doi:10.1080/16078454.2026.2749300
Lamas, C., & García, M. C. L. (2026) · Vitamins and hormones · doi:10.1016/bs.vh.2026.10.003
Familial paraganglioma syndrome clinical presentation, diagnosis and follow-up
Iglesias, P. (2026) · Vitamins and hormones · doi:10.1016/bs.vh.2026.10.015
Charting the Genetic Landscape and Clonal Architectures of Pheochromocytoma
Crona, J. (2014) · KTH Publication Database DiVA (KTH Royal Institute of Technology)
Metadata
- Authors
- Zhuang, Z., Yang, C., Lorenzo, F., Merino, M., Fojo, T., Kebebew, E., Popovic, V., Stratakis, C. A., Prchal, J. T., & Pacak, K.
- Affiliations
- National Institutes of Health (US)
- National Institute of Neurological Disorders and Stroke (US)
- Veterans Health Administration (US)
- National Cancer Institute (MY)
- National Cancer Institute (UA)
- University of Belgrade (RS)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
- University of Utah (US)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2012-09-06
- Volume
- 367
- Issue
- 10
- Pages
- 922-930
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC3432945
- OpenAlex
- W2142033642
- Cited by
- 397
- References
- 26
- Citations by year
- 2026: 22 · 2025: 12 · 2024: 22 · 2023: 18 · 2022: 20 · 2021: 29 · 2020: 24 · 2019: 24 · 2018: 32 · 2017: 43 · 2016: 27 · 2015: 31 · 2014: 47 · 2013: 42 · 2012: 2
- FWCI
- 39.84
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Cancer Institute (P01CA108671)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (ZIAHD008735)
- Topics
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Hypoxia, and Metabolism
- Health Sciences › Medicine › Oncology › Ear and Head Tumors
- Keywords
- HIF-2α, paraganglioma, polycythemia, somatostatinoma, gain-of-function mutations, protein half-life, prolyl hydroxylation, VHL, succinate dehydrogenase, pheochromocytoma
- MeSH terms
- Abdominal Neoplasms, Endothelial PAS Domain-Containing Protein 1, Adolescent, Adrenal Gland Neoplasms, Adult, DNA Mutational Analysis, Female, Humans, Hydroxylation, Mutation, Pancreatic Neoplasms, Paraganglioma, Polycythemia, Somatostatinoma, Transcription, Genetic, Up-Regulation, Basic Helix-Loop-Helix Transcription Factors, Basic Helix-Loop-Helix Proteins
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