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Genetics of urinary bladder paragangliomas: a multi-center study of a Chinese cohort

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机构: [1]Fudan Univ, Dept Endocrinol & Metab, Zhongshan Hosp, Shanghai, Peoples R China [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 [4]Fudan Univ, Zhongshan Hosp, Dept Pathol, Shanghai, Peoples R China [5]Fujian Med Univ, Shengli Clin Med Coll, Fujian Prov Hosp, Dept Urol, Fuzhou, Peoples R China [6]China Med Univ, Dept Urol, Affiliated Hosp 1, Shenyang, Peoples R China [7]China Med Univ, Inst Endocrinol, Dept Endocrinol & Metab, NHC Key Lab Diag & Treatment Thyroid Dis,Hosp 1, Shenyang, Peoples R China [8]Southern Med Univ, Guangdong Prov Peoples Hosp, Guangdong Acad Med Sci, Dept Pathol, Guangzhou, Peoples R China [9]Southern Med Univ, Guangdong Prov Peoples Hosp, Guangdong Acad Med Sci, Dept Endocrinol, Guangzhou, Peoples R China [10]Hangzhou Med Coll, Geriatr Med Ctr, Key Lab Endocrine Gland Dis Zhejiang Prov, Dept Endocrinol,Affiliated Peoples Hosp,Zhejiang, Hangzhou, Zhejiang, Peoples R China [11]Fujian Med Univ, Dept Anesthesiol, Longyan Affiliated Hosp 1, Longyan, Peoples R China [12]First Peoples Hosp Chenzhou, Dept Obstet, Chenzhou, Peoples R China [13]Fujian Med Univ, Affiliated Hosp 1, Fuzhou, Peoples R China [14]North Sichuan Med Coll, Nanchong Cent Hosp, Clin Hosp 2, Dept Urol, Szechwan, Peoples R China [15]Soochow Univ, Dept Gastroenterol, Affiliated Hosp 2, Suzhou, Peoples R China [16]Cent South Univ, Xiangya Hosp 2, Dept Urol, Changsha, Peoples R China [17]Cent South Univ, Xiangya Hosp 3, Dept Urol, Changsha, Peoples R China [18]Shaanxi Prov Peoples Hosp, Dept Urol, Xian, Peoples R China [19]Wuhan Univ, Dept Urol, Renmin Hosp, Wuhan, Peoples R China [20]European Univ Madrid, Univ Getafe Hosp, Dept Med Oncol, Madrid, Spain [21]Spanish Natl Canc Res Ctr, Ctr Invest Biomed Red Enfermedades Raras, Hereditary Endocrine Canc Grp, Madrid, Spain [22]Natl Inst Child Hlth & Human Dev, Sect Med Neuroendocrinol, NIH, Bethesda, MD 20892 USA [23]Fudan Univ, Zhongshan Hosp, Dept Urol, 180 Fenglin Rd, Shanghai 200032, Peoples R China
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关键词: Urinary bladder paragangliomas Pathogenic variants SDHB

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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.

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大类 | 2 区 医学
小类 | 2 区 内分泌学与代谢
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Q2 ENDOCRINOLOGY & METABOLISM

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第一作者机构: [1]Fudan Univ, Dept Endocrinol & Metab, Zhongshan Hosp, Shanghai, Peoples R China
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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
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