[1]刘海春 高洪波 李赟 李隆敏 邵玉军.基因突变对嗜铬细胞瘤/副神经节瘤临床特征及预后的影响[J].国际内分泌代谢杂志,2023,43(05):392-395,412.[doi:10.3760/cma.j.cn121383-20221029-10044]
　Liu Haichun,Gao Hongbo,Li Yun,et al.Effect of gene mutations on clinical features and prognosis of pheochromocytoma/paraganglioma[J].International Journal of Endocrinology and Metabolism,2023,43(05):392-395,412.[doi:10.3760/cma.j.cn121383-20221029-10044]
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基因突变对嗜铬细胞瘤/副神经节瘤临床特征及预后的影响()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
43
期数:
2023年05期
页码:
392-395,412
栏目:
论著
出版日期:
2023-09-20

文章信息/Info

Title:
Effect of gene mutations on clinical features and prognosis of pheochromocytoma/paraganglioma
作者:
刘海春 高洪波 李赟 李隆敏 邵玉军
北京核工业医院核素诊疗中心,北京 102413
Author(s):
Liu Haichun;  Gao Hongbo;  Li Yun;  Li Longmin;  Shao Yujun.
Department of Radionuclide Treatment Center, Beijing Nuclear Industry Hospital, Beijing 102413, China
关键词:
嗜铬细胞瘤;  副神经节瘤;  临床特征;  基因突变;  SDHB基因突变
Keywords:
Pheochromocytoma;  Paraganglioma;  Clinical features;  Gene mutation;  SDHB gene mutation
DOI:
10.3760/cma.j.cn121383-20221029-10044
摘要:
目的 分析基因突变对嗜铬细胞瘤/副神经节瘤(PPGL)患者的临床特征及预后的影响。方法 回顾性分析北京核工业医院2019年1月至2022年6月收治的PPGL患者的临床特征、无进展生存期(PFS)在是否存在基因突变方面的差异。结果 PPGL患者临床表现多样,以高血压最常见(78%)。26例(51%)患者出现基因突变,类型以SDHB最多(62%); 具有基因突变患者中有20例(77%)有高血压。是否具有基因突变在年龄方面差异具有统计学意义(P<0.05)。有基因突变组患者的中位PFS(27个月)短于无基因突变组(80个月),差异有统计学意义(P<0.05)。结论 PPGL患者无论有无基因突变其临床表现以高血压最为常见,临床症状多样,缺乏特异性。基因突变以SDHB最为常见,具有基因突变的患者年龄相对较轻,并且出现疾病进展速度较快。
Abstract:
Objective To summarize the genetic mutation and clinical features of pheochromocytoma/paraganglioma(PPGL)patients.Methods The clinical characteristics and progression-free survival(PFS)of PPGL patients admitted to Beijing Nuclear Industry Hospital from January 2019 to June 2022 were retrospectively analyzed, and the differences in clinical characteristics and PFS of patients with or without gene mutation of PPGL were compared respectively.Results The clinical manifestations of PPGL patients were varied, with hypertension being the most common manifestation(78%). A total of 26 patients(51%)had genetic mutations with SDHB being the most common type(62%), and 20 patients(77%)with genetic mutations had hypertension. The age of patients was analyzed according to whether there was gene mutation, and the difference was statistically significant(P<0.05). The median PFS of patients with genetic mutation(27 months)was shorter than that of patients without genetic mutation(80 months); the difference was statistically significant(P<0.05).Conclusion The most common clinical manifestations of PPGL patients with or without genetic mutation are hypertension. PPGL have diverse clinical symptoms and lack of specificity. SDHB mutations are most common, and patients with these mutations are relatively young and develop disease at a faster rate.

参考文献/References:

[1] Tevosian SG,Ghayee HK.Pheochromocytomas and paragangliomas[J].Endocrinol Metab Clin North Am,2019,48(4):727-750.DOI:10.1016/j.ecl.2019.08.006.
[2] Lenders JW,Duh QY,Eisenhofer G,et al.Pheochromocytoma and paraganglioma:an endocrine society clinical practice guideline[J].J Clin Endocrinol Metab,2014,99(6):1915-1942.DOI:10.1210/jc.2014-1498.
[3] Berends AMA,Buitenwerf E,de Krijger RR,et al.Incidence of pheochromocytoma and sympathetic paraganglioma in the Netherlands:a nationwide study and systematic review[J].Eur J Intern Med,2018,51:68-73.DOI:10.1016/j.ejim.2018.01.015.
[4] Mantero F,Terzolo M,Arnaldi G,et al.A survey on adrenal incidentaloma in Italy.Study Group on adrenal tumors of the Italian society of endocrinology[J].J Clin Endocrinol Metab,2000,85(2):637-644.DOI:10.1210/jcem.85.2.6372.
[5] Buffet A,Venisse A,Nau V,et al.A decade(2001-2010)of genetic testing for pheochromocytoma and paraganglioma[J].Horm Metab Res,2012,44(5):359-366.DOI:10.1055/s-0032-1304594.
[6] Pappachan JM,Tun NN,Arunagirinathan G,et al.Pheochromocytomas and Hypertension[J].Curr Hypertens Rep,2018,20(1):3.DOI:10.1007/s11906-018-0804-z.
[7] Soltani A,Pourian M,Davani BM.Does this patient have Pheochromocytoma? a systematic review of clinical signs and symptoms[J].J Diabetes Metab Disord,2016,15:6.DOI:10.1186/s40200-016-0226-x.
[8] Thosani S,Ayala-Ramirez M,Román-Gonzalez A,et al.Constipation:an overlooked,unmanaged symptom of patients with pheochromocytoma and sympathetic paraganglioma[J].Eur J Endocrinol,2015,173(3):377-387.DOI:10.1530/EJE-15-0456.
[9] Hamidi O,Young WF Jr,Iñiguez-Ariza NM,et al.Malignant pheochromocytoma and paraganglioma:272 patients over 55 years[J].J Clin Endocrinol Metab,2017,102(9):3296-3305.DOI:10.1210/jc.2017-00992.
[10] Ma X,Ling C,Zhao M,et al.Mutational profile and potential molecular therapeutic targets of pheochromocytoma[J].Front Endocrinol(Lausanne),2022,13:921645.DOI:10.3389/fendo.2022.921645.
[11] 中华医学会内分泌学分会.嗜铬细胞瘤和副神经节瘤诊断治疗专家共识(2020版)[J].中华内分泌代谢杂志,2020,36(9):737-750.DOI:10.3760/cma.j.cn311282-20200629-00482.
[12] Goncalves J,Lussey-Lepoutre C,Favier J,et al.Emerging molecular markers of metastatic pheochromocytomas and paragangliomas[J].Ann Endocrinol(Paris),2019,80(3):159-162.DOI:10.1016/j.ando.2019.04.003.

[13] Jimenez C,Erwin W,Chasen B.Targeted radionuclide therapy for patients with metastatic pheochromocytoma and paraganglioma:from low-specific-activity to high-specific-activity iodine-131 metaiodobenzylguanidine[J].Cancers(Basel),2019,11(7):1018.DOI:10.3390/cancers11071018.
[14] Plouin PF,Amar L,Dekkers OM,et al.European society of endocrinology clinical practice guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma[J].Eur J Endocrinol,2016,174(5):G1-G10.DOI:10.1530/EJE-16-0033.
[15] Varikuti S,Singh B,Volpedo G,et al.Ibrutinib treatment inhibits breast cancer progression and metastasis by inducing conversion of myeloid-derived suppressor cells to dendritic cells[J].Br J Cancer,2020,122(7):1005-1013.DOI:10.1038/s41416-020-0743-8.
[16] Mak IYF,Hayes AR,Khoo B,et al.Peptide receptor radionuclide therapy as a novel treatment for metastatic and invasive phaeochromocytoma and paraganglioma[J].Neuroendocrinology,2019,109(4):287-298.DOI:10.1159/000499497.
[17] Nölting S,Grossman A,Pacak K.Metastatic phaeochromocytoma:spinning towards more promising treatment options[J].Exp Clin Endocrinol Diabetes,2019,127(2-03):117-128.DOI:10.1055/a-0715-1888.
[18] Jaiswal SK,Sarathi V,Memon SS,et al.177Lu-DOTATATE therapy in metastatic/inoperable pheochromocytoma-paraganglioma[J].Endocr Connect,2020,9(9):864-873.DOI:10.1530/EC-20-0292.
[19] Jha A,Taïeb D,Carrasquillo JA,et al.High-specific-activity-131I-MIBG versus 177Lu-DOTATATE targeted radionuclide therapy for metastatic pheochromocytoma and paraganglioma[J].Clin Cancer Res,2021,27(11):2989-2995.DOI:10.1158/1078-0432.CCR-20-3703.

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备注/Memo

备注/Memo:
通信作者:李赟,Email:1342950009@qq.com
基金项目:北京核工业医院院长基金项目(yzjj-2017-001)
更新日期/Last Update: 2023-10-10