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Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.
- Source :
-
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2020 Dec 11; Vol. 11, pp. 574662. Date of Electronic Publication: 2020 Dec 11 (Print Publication: 2020). - Publication Year :
- 2020
-
Abstract
- Pheochromocytoma/paraganglioma (PPGL) has a high genetic heterogeneity with 40% germline variants in known pathogenic genes. Data in Chinese on this aspect are scanty. To detect the genetic and clinical profile of Chinese PPGL patients, we examined the variants of 12 known germline pathogenic genes ( SDHA , SDHB , SDHC , SDHD , SDHAF2 , FH , VHL , RET , NF1 , MAX , TMEM127 , and KIF1B ) by next-generation sequencing and Sanger sequencing in 314 Chinese PPGL subjects. Twenty nine percent of Chinese PPGL patients had germline variants and SDHB was the most frequently mutated (14.6%). The most frequent SDHB variants were in exon 2, exon 7, and IVS 7. Pathogenic variants were more likely to occur in metastatic PPGL patients, paragangliomas, and patients under 30, with the ratio being 50.7% (35/69), 35.9% (56/156), and 49.5% (52/105), respectively. Our cohort included 314 patients from a single setting. The genetic and clinical features of Chinese PPGL patients were unique in some aspects compared to their non-Chinese counterparts. Identification of genotype-phenotype relation can serve as an effective tool for genetic prioritization and clinical decision-making.<br />Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.<br /> (Copyright © 2020 Ma, Li, Tong, Wang, Cui, Zhang, Zhang, Chen and Li.)
- Subjects :
- Adolescent
Adrenal Gland Neoplasms secondary
Adult
Aged
Child
Child, Preschool
Cohort Studies
Female
Genetic Heterogeneity
High-Throughput Nucleotide Sequencing
Humans
Male
Middle Aged
Paraganglioma pathology
Pheochromocytoma pathology
Young Adult
Adrenal Gland Neoplasms genetics
Genetic Predisposition to Disease
Genetic Testing methods
Germ-Line Mutation
Paraganglioma genetics
Pheochromocytoma genetics
Succinate Dehydrogenase genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1664-2392
- Volume :
- 11
- Database :
- MEDLINE
- Journal :
- Frontiers in endocrinology
- Publication Type :
- Academic Journal
- Accession number :
- 33362715
- Full Text :
- https://doi.org/10.3389/fendo.2020.574662