邓建华;李汉忠;

• 1:中国医学科学院北京协和医学院北京协和医院泌尿外科

摘要(Abstract)：

<正>嗜铬细胞瘤/副神经节瘤(pheochromocytoma/paraganglioma,PCC/PGL)约占高血压人群的0.2%⁰.6%,在交感神经系统肿瘤中所占比例约为7%。嗜铬细胞瘤曾有"10%肿瘤"之称,即"10%在肾上腺外,10%在儿童时期发病,10%为家族性,10%为双侧,10%多发,10%可能术后复发,10%为恶性,

关键词(KeyWords)： 嗜铬细胞瘤;副神经节瘤;基因突变;遗传综合征

Abstract:

Keywords:

基金项目(Foundation):

作者(Authors): 邓建华;李汉忠;

参考文献(References)：

• [1]Mannelli M,Castellano M,Schiavi F,et al.Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas[J].2009,94:1541-547.
• [2]Chrisoulidou A,Kaltsas G,Ilias I,et al.The diagnosis and management of malignant phaeochromocytoma and paraganglioma[J].Endocr Relat Cancer,2007,14:569-585.
• [3]Kunst HP,Rutten MH,de Mnnink JP,et al.SDHAF2(PGL2-SDH5)and hereditary head and neck paraganglioma[J].Clin Cancer Res,2011,17:247-254.
• [4]Bayley JP,Kunst HP,Cascon A,et al.SDHAF2 mutationsin familial and sporadic paraganglioma and phaeochromocytoma[J].Lancet Oncol,2010,11:366-372.
• [5]Ladroue C,Carcenac R,Leporrier M,et al.PHD2 mutation and congenital erythrocytosis with paraganglioma[J].N Engl J Med,2008,359:2685-2692.
• [6]Schlisio S,Kenchappa RS,Vredeveld LC,et al.The kinesin KIF1B acts downstream from Egl N3 to induce apoptosis and is a potential 1p36 tumor suppressor[J].Genes Dev,2008,22:884-893.
• [7]Hao HX,Khalimonchuk O,Schraders M,et al.SDH5,a gene required for flavination of succinate dehydrogenase,is mutated in paraganglioma[J].Science,2009,325:1139-1142.
• [8]Gaal J,Burnichon N,Korpershoek E,et al.Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas[J].J Clin Endocrinol Metab,2010,95:1274-1278.
• [9]Qin Y,Yao L,King EE,et al.Germline mutations in TMEM127 confer susceptibility to pheochromocytoma[J].Nat Genet,2010,42:229-233.
• [10]Burnichon N,Brière JJ,LibéR,et al.SDHA is a tumor suppressor gene causing paraganglioma[J].Hum Mol Genet,2010,19:3011-3020.
• [11]Comino-Méndez I,Gracia-Aznárez FJ,Schiavi F,et al.Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma[J].Nat Genet,2011,43:663-667.
• [12]Lorenzo FR,Yang C,Ng Tang Fui M,et al.A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma[J].J Mol Med Berl,2013,91:507-512.
• [13]Yao L,Schiavi F,Cascon A,et al.Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas[J].JAMA,2010,304:2611-2619.
• [14]Burnichon N,Cascón A,Schiavi F,et al.MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma[J].Clin Cancer Res,2012,18:2828-2837.
• [15]Ricketts C,Woodward ER,Killick P,et al.Germline SDHB mutations and familial renal cell carcinoma[J].J Natl Cancer Inst,2008,100:1260-1262.
• [16]Stratakis CA,Carney JA.The triad of paragangliomas,gastric stromal tumours and pulmonary chondromas(Carney triad),and the dyad of paragangliomas and gastric stromal sarcomas(Carney-Stratakis syndrome):molecular genetics and clinical implications[J].J Intern Med,2009,266:43-52.
• [17]Grubbs EG,Rich TA,Ng C,et al.Long-term outcomes of surgical treatment for hereditary pheochromocytoma[J].J Am Coll Surg,2013,216:280-289.
• [18]Gimenez-Roqueplo AP,Favier J,Rustin P,et al.Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas[J].Cancer Res,2003,63:5615-5621.
• [19]Pasini B,Stratakis CA.SDH mutations in tumorigenesis and inherited endocrine tumours:lesson from the phaeochromocytoma paraganglioma syndromes[J].J Intern Med,2009,266:19-42.
• [20]van Hulsteijn LT,Dekkers OM,Hes FJ,et al.Risk of malignant paraganglioma in SDHB-mutation and SDHD mutation carriers:a systematic review and meta-analysis[J].J Med Genet,2012,49:768-776.
• [21]Machens A,Brauckhoff M,Holzhausen HJ,et al.Codonspecific development of pheochromocytoma in multiple endocrine neoplasia type 2[J].J Clin Endocrinol Metab,2005,90:3999-4003.
• [22]Rodriguez JM,Balsalobre M,Ponce JL,et al.Pheochromocytoma in MEN 2A syndrome.Study of 54 patients[J].World J Surg,2008,32:2520-2526.
• [23]Boedeker CC,Erlic Z,Richard S,et al.Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2[J].J Clin Endocrinol Metab,2009,94:1938-1944.
• [24]Amar L,Bertherat J,Baudin E.Genetic testing in pheochromocytoma or functional paraganglioma[J].J Clin Oncol,2005,23:8812-8818.
• [25]Erlic Z,Neumann HP.Familial pheochromocytoma[J].Hormones,2009,8:29-38.
• [26]Boyd KP,Korf BR,Theos A.Neurofibromatosis type 1[J].J Am Acad Dermatol,2009,61:1-14.
• [27]Walther MM,Reiter R,Keiser HR,et al.Clinical and genetic characterization of pheochromocytoma in von HippelLindau families:comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma[J].J Urol,1999,162:659-664.
• [28]Kehrer-Sawatzki H,Cooper DN.Mosaicism in sporadic neurofibromatosis type 1:variations on a theme common to other hereditary cancer syndromes?[J].J Med Genet,2008,45:622-631.
• [29]Zinnamosca L,Petramala L,Cotesta D,et al.Neurofibromatosis type 1(NF1)and pheochromocytoma:prevalence,clinical and cardiovascular aspects[J].Arch Dermatol Res,2011,303:317-325.
• [30]Ricketts CJ,Forman JR,Rattenberry E,et al.Tumor risks and genotype-phenotype-proteotype analysis in 358 patientswith germline mutations in SDHB and SDHD[J].Hum Mutat,2010,31:41-51.
• [31]Neumann HP,Pawlu C,Peczkowska M,et al.Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations[J].JAMA,2004,292:943-951.
• [32]Burnichon N,Rohmer V,Amar L,et al.PGL.NET network.The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas[J].J Clin Endocrinol Metab,2009,94:2817-2827.
• [33]Schlisio S,Kenchappa RS,Vredeveld LC,et al.The kinesin KIF1Bbeta acts downstream from Egl N3 to induce apoptosis and is a potential 1p36 tumor suppressor[J].Genes Dev,2008,22:884-893.
• [34]Maynard MA,Ohh M.The role of hypoxia-inducible factors in cancer[J].Cell Mol Life Sci,2007,64:2170-2180.
• [35]Yao L,Schiavi F,Cascon A,et al.Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas[J].JAMA,2010,304:2611-269.
• [36]Carney JA.Gastric stromal sarcoma,pulmonary chondroma,and extra-adrenal paraganglioma(Carney Triad):natural history,adrenocortical component,and possible familial occurrence[J].Mayo Clin Proc,1999,6:543-552.
• [37]Mc Whinney SR,Pasini B,Stratakis CA.International carney triad and Carney-Stratakis syndrome consortium.Familial gastrointestinal stromal tumors and germ-line mutations[J].N Engl J Med,2007,357:1054-1056.
• [38]Favier J,Amar L,Gimenez-Roqueplo AP.Paraganglioma and phaeochromocytoma:from genetics to personalized medicine[J].Nat Rev Endocrinol,2015,11:101-111.
• [39]Machens A,Brauckhoff M,Gimm O,et al.Risk-oriented approach to hereditary adrenal pheochromocytoma.Ann NY[J].Acad Sci,2006,1073:417-428.