Purpose Pheochromocytomas and paragangliomas (PPGLs) exhibit the highest degree of heritability among all human tumors, yet the genetics of urinary bladder paragangliomas (UBPGLs) remains poorly understood. The present study aims to examine the characteristics of a cohort of Chinese patients with UBPGLs, focusing particularly on genetics. Methods The study included 70 Chinese patients with UBPGLs from 15 centers in China, 240 patients with non-head and neck PGLs (non-HNPGLs) outside the urine bladder, and 16 Caucasian patients with UBPGLs. Tumor DNA samples were sequenced by next generation sequencing. All identified pathogenic variants (PVs) were confirmed by Sanger sequencing. Results Among the 70 Chinese patients, PVs were identified in 38 cases: 23 in cluster 1 A (13 SDHB, 1 SDHD, 1 SDHA, 4 IDH1, 2 SLC25A11, and 2 FH), 4 in cluster 1B (3 EPAS1 and 1 EGLN1), and 11 in cluster 2 genes (7 HRAS, 1 FGFR1, 2 NF1, and 1 H3F3A). Compared with other non-HNPGLs, UBPGLs had more PVs in cluster 1 A genes (32.9% vs. 14.2%, p < 0.001), but fewer in cluster 1B (5.7% vs. 19.2%, p = 0.002) and cluster 2 genes (15.7% vs. 42.5%, p < 0.001). PVs in SDHB (18.6%) was the most common in Chinese patients with UBPGLs, followed by HRAS (10.0%). No PVs was found in 45.7% of all UBPGLs. PVs in HRAS, SLC25A11, EPAS1, and FH were also identified in Caucasians with UBPGLs. Conclusion Chinese patients with UBPGLs have a diverse genetic profile. PVs in cluster 1 A genes underlie nearly 1/3 of patients, highlighting the importance of genetic testing. Diverse germline and somatic PVs are also present in Caucasian patients with UBPGLs.
第一作者机构:[1]Fudan Univ, Dept Endocrinol & Metab, Zhongshan Hosp, Shanghai, Peoples R China
共同第一作者:
通讯作者:
通讯机构:[2]Cent South Univ, Xiangya Hosp, Dept Urol, 87 Xiangya Rd, Changsha 410008, Hunan, Peoples R China[3]Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China
推荐引用方式(GB/T 7714):
Jiang Jingjing,Pang Yingxian,Luo Rongkui,et al.Genetics of urinary bladder paragangliomas: a multi-center study of a Chinese cohort[J].JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION.2024,doi:10.1007/s40618-024-02509-w.
APA:
Jiang, Jingjing,Pang, Yingxian,Luo, Rongkui,Wei, Yongbao,Zhang, Jing...&Liu, Longfei.(2024).Genetics of urinary bladder paragangliomas: a multi-center study of a Chinese cohort.JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION,,
MLA:
Jiang, Jingjing,et al."Genetics of urinary bladder paragangliomas: a multi-center study of a Chinese cohort".JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION .(2024)