Evidence map›Paper›PMID 39636472›Full record

ArticleJournal of endocrinological investigation2025

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

Jingjing Jiang, Yingxian Pang, Rongkui Luo, Yongbao Wei, Jing Zhang, Minghao Li, Yitong Xu, Xiaochun Teng, Hongmei Wu, Haixia Guan and 17 more

Abstract readMulticenter Study
PubMed Publisher
In one paragraph

Article in Journal of endocrinological investigation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors.

Jingjing JiangDepartment of Endocrinology and Metabolism, Zhongshan Hospital Fudan University, Shanghai, China.
Yingxian PangDepartment of Urology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
Rongkui LuoDepartment of Pathology, Zhongshan Hospital Fudan University, Shanghai, China.
Yongbao WeiDepartment of Urology, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou, China.
Jing ZhangDepartment of Endocrinology and Metabolism, Zhongshan Hospital Fudan University, Shanghai, China.
Minghao LiDepartment of Urology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
Yitong XuDepartment of Pathology, the First Affiliated Hospital of China Medical University, Shenyang, China.
Xiaochun TengDepartment of Endocrinology and Metabolism, Institute of Endocrinology, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Hospital of China Medical University, Shenyang, China.
Hongmei WuDepartment of Pathology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
Haixia GuanDepartment of Endocrinology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China.
Xiaohong WuGeriatric Medicine Center, Cancer Center, Key Laboratory of Endocrine Gland Diseases of Zhejiang Province, Department of Endocrinology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, Zhejiang, China.
Chenyan YanGeriatric Medicine Center, Cancer Center, Key Laboratory of Endocrine Gland Diseases of Zhejiang Province, Department of Endocrinology, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, Zhejiang, China.
Dewen ZhongDepartment of Urology, Longyan First Affiliated Hospital of Fujian Medical University, Longyan, China.
Wanglong DengDepartment of Urology, the First People's Hospital of Chenzhou, Chenzhou, China.
Ning XuDepartment of Urology, the First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Yanlin WenDepartment of Urology, Nanchong Central Hospital, the Second Clinical Hospital of North Sichuan Medical College, Szechwan, China.
Yu FengDepartment of Endocrinology, The Second Affiliated Hospital of Soochow University, Suzhou, China.
Bin YanDepartment of Urology, the Second Xiangya Hospital, Central South University, Changsha, China.
Long WangDepartment of Urology, the Third Xiangya Hospital, Central South University, Changsha, China.
Yazhuo JiangDepartment of Urology, Shaanxi Provincial People's Hospital, Xi'an, China.
Jinzhuo NingDepartment of Urology, Renmin Hospital of Wuhan University, Wuhan, China.
Xiaowen XuDepartment of Urology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.
Miguel J SoriaDepartment of Medical Oncology, European University of Madrid, University Getafe Hospital, Madrid, Spain.
Mercedes RobledoHereditary Endocrine Cancer Group, Centro de Investigación Biomédica en Red de Enfermedades Raras, Spanish National Cancer Research Center, Madrid, Spain.
Karel PacakSection of Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Yujun LiuDepartment of Urology, Zhongshan Hospital, Fudan University, 180 Fenglin Road Xuhui District, Shanghai, 200032, China. liu.yujun@zs-hospital.sh.cn.
Longfei LiuDepartment of Urology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China. longfei_liu@csu.edu.cn.

Funding

Innovation-Driven Project of Central South University 020CX046Instituto de Salud Carlos III (ISCIII) PI20/01169National Natural Science Foundation of China 82170806Paradifference Foundation; the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Developmentthe National Cancer InstituteYouth Foundation of Zhongshan Hospital Fudan University LCBSHZX013 and Zhupei2021-019
6 · The paper itself

Abstract

purposePheochromocytomas 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.

methodsThe 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.

resultsAmong 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.

conclusionChinese 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.

Indexed as

Biomarkers, TumorParagangliomaUrinary Bladder NeoplasmsAdultAgedChinaCohort StudiesEast Asian PeopleFemaleFollow-Up StudiesHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPrognosisYoung AdultBiomarkers, TumorPathogenic variantsSDHBUrinary bladder paragangliomas

Identifiers

PMID39636472

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.