Clinical and genetic manifestation of pheochromocytoma patients with RET mutation

• Published in: Ji chu yi xue yu lin chuang = Jichu yixue yu linchuang = Basic medical sciences and clinics Vol. 40; no. 12; pp. 1651 - 1655
• Main Author: MA Xiao-sen, WANG Fen, CUI Yun-ying, ZHOU Ting, CHEN Shi, LU Lin, TONG An-li, LI Yu-xiu
• Format: Journal Article
• Language: Chinese
• Published: Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College 01.12.2020
• Subjects: pheochromocytoma|ret gene|multiple endocrine neoplasiatype 2
• ISSN: 1001-6325

Objective To explore clinical and genetic manifestation of pheochromocytoma patients with RET gene mutation. Methods Clinical data, laboratory examination results and RET gene mutations of 23 pheochromocytoma patients with RET mutation treated in Peking Union Medical College Hospital from 2013 to 2019 were retrospectively analyzed. Results The diagnosis age of pheochromocytoma in 23 patients was 32±10 years. In 22 patients with multiple endocrine neoplasia (MEN) 2A, mutations were clustered in exon 16 (18 cases), especially in codon 634 (16 cases), followed by exon 10 and 14, and one patient with MEN2B had M918T in exon 16. Among the 23 patients, 9 had paroxysmal hypertension, 5 had sustained hypertension, 3 were normotensive, and 6 had episodic palpitations but their blood pressures were not measured during the attacks. 24 h urinary catecholamine excretion was as following: norepinephrine (NE): 65.8 (36.9,235.9) μg/24 h, Epinephrine (E): 5.4 (2.8, 37.2) μg/24 h and Dopamine (DA): 277 (198, 297) μg/24 h. 15 p