Li Xiazhe,Wang Le,Zhong Zhiyong,et al.Pacak-Zhuang syndrome in children: one case report[J].Journal of Clinical Pediatric Surgery,,():490-492.[doi:10.3760/cma.j.cn101785-20251212-00114]
Pacak-Zhuang syndrome in children: one case report
References:
[1] Zhuang ZP, Yang CZ, Lorenzo F, et al.Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia[J].N Engl J Med, 2012, 367(10):922-930.DOI:10.1056/NEJMoa1205119.
[2] Pacak K, Jochmanova I, Prodanov T, et al.New syndrome of paraganglioma and somatostatinoma associated with polycythemia[J].J Clin Oncol, 2013, 31(13):1690-1698.DOI:10.1200/JCO.2012.47.1912.
[3] Rosenblum JS, Wang HR, Nazari MA, et al.Pacak-Zhuang syndrome:a model providing new insights into tumor syndromes[J].Endocr Relat Cancer, 2023, 30(10):e230050.DOI:10.1530/ERC-23-0050.
[4] Ferens FG, Taber CC, Stuart S, et al.Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome[J].Commun Biol, 2024, 7(1):240.DOI:10.1038/s42003-024-05904-4.
[5] Bechmann N, Rosenblum JS, Alzahrani AS.Current views on the role of HIF-2α in the pathogenesis and syndromic presentation of pheochromocytoma and paraganglioma[J].Best Pract Res Clin Endocrinol Metab, 2024, 38(6):101955.DOI:10.1016/j.beem.2024.101955.
[6] 于浩泳, 贾伟平.应加强对Pacak-Zhuang综合征的认识[J].中华医学杂志, 2015, 95(26):2049-2050.DOI:10.3760/cma.j.issn.0376-2491.2015.26.001. Yu HY, Jia WP.More attention should be paid to Pacak-Zhuang syndrome[J].Natl Med J China, 2015, 95(26):2049-2050.DOI:10.3760/cma.j.issn.0376-2491.2015.26.001.
[7] Yang CZ, Sun MG, Matro J, et al.Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas[J].Blood, 2013, 121(13):2563-2566.DOI:10.1182/blood-2012-10-460972.
[8] Bertout JA, Patel SA, Simon MC.The impact of O2 availability on human cancer[J].Nat Rev Cancer, 2008, 8(12):967-975.DOI:10.1038/nrc2540.
[9] Keith B, Johnson RS, Simon MC.HIF1α and HIF2α:sibling rivalry in hypoxic tumour growth and progression[J].Nat Rev Cancer, 2011, 12(1):9-22.DOI:10.1038/nrc3183.
[10] Kaelin WG Jr, Ratcliffe PJ.Oxygen sensing by metazoans:the central role of the HIF hydroxylase pathway[J].Mol Cell, 2008, 30(4):393-402.DOI:10.1016/j.molcel.2008.04.009.
[11] Hu CJ, Wang LY, Chodosh LA, et al.Differential roles of hypoxia-inducible factor 1alpha (HIF-1alpha) and HIF-2alpha in hypoxic gene regulation[J].Mol Cell Biol, 2003, 23(24):9361-9374.DOI:10.1128/MCB.23.24.9361-9374.2003.
[12] Kaelin WG Jr.Cancer and altered metabolism:potential importance of hypoxia-inducible factor and 2-oxoglutarate-dependent dioxygenases[J].Cold Spring Harb Symp Quant Biol, 2011, 76:335-345.DOI:10.1101/sqb.2011.76.010975.
[13] Buffet A, Smati S, Mansuy L, et al.Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome[J].J Clin Endocrinol Metab, 2014, 99(2):E369-E373.DOI:10.1210/jc.2013-2600.
[14] Jochmanová I, Lazúrová I.Diagnosis and management of metastatic pheochromocytoma and paraganglioma[J].Vnitr Lek, 2017, 63(9):580-588.
[15] Esaki Y, Liao XY, Harbuz-Miller I.A rare case of paraganglioma syndrome associated with polycythemia and blindness[J].Cureus, 2024, 16(6):e63047.DOI:10.7759/cureus.63047.
[16] Anderson NE, Chung K, Willoughby E, et al.Neurological manifestations of phaeochromocytomas and secretory paragangliomas:a reappraisal[J].J Neurol Neurosurg Psychiatry, 2013, 84(4):452-457.DOI:10.1136/jnnp-2012-303028.
[17] Neumann HPH, Bausch B, McWhinney SR, et al.Germ-line mutations in nonsyndromic pheochromocytoma[J].N Engl J Med, 2002, 346(19):1459-1466.DOI:10.1056/NEJMoa020152.
[18] Gimenez-Roqueplo AP, Dahia PL, Robledo M.An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes[J].Horm Metab Res, 2012, 44(5):328-333.DOI:10.1055/s-0031-1301302.
[19] Raza R, Ambreen S, Mumtaz H, et al.Polycythemia secondary to pheochromocytoma[J].J Rawalpindi Med Coll, 2021, 25(4):560-563.DOI:10.37939/jrmc.v25i4.1655.
[20] Ladroue C, Carcenac R, Leporrier M, et al.PHD2 mutation and congenital erythrocytosis with paraganglioma[J].N Engl J Med, 2008, 359(25):2685-2692.DOI:10.1056/NEJMoa0806277.
[21] Kamihara J, Hamilton KV, Pollard JA, et al.Belzutifan, a potent HIF2α inhibitor, in the Pacak-Zhuang syndrome[J].N Engl J Med, 2021, 385(22):2059-2065.DOI:10.1056/NEJMoa2110051.
Memo
收稿日期:2026-12-12。
基金项目:河北省卫生健康委员会课题(20242273)
通讯作者:宫颖新,Email:gongyingxin2009@163.com