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Genetic Characteristics of Incidental Pheochromocytoma and Paraganglioma.
Zhang, Jing; Li, Minghao; Pang, Yingxian; Wang, Cikui; Wu, Jingjing; Cheng, Ziyun; Li, Xiaomu; Lu, Zhiqiang; Liu, Yujun; Guo, Jianming; Chen, Xiang; He, Yao; Guan, Xiao; Xu, Xiaowen; Wang, Yong; Liu, Jiahao; Guo, Wei; Hou, Yingyong; Liu, Longfei; Jiang, Jingjing; Gao, Xin.
Afiliación
  • Zhang J; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, 200032, China.
  • Li M; Fudan Institute for Metabolic Diseases, Fudan University, Shanghai, 200032, China.
  • Pang Y; Department of Urology, Xiangya Hospital, Central South University, Changsha, 410008, China.
  • Wang C; Department of Urology, Xiangya Hospital, Central South University, Changsha, 410008, China.
  • Wu J; Department of Urology, Xiangya Hospital, Central South University, Changsha, 410008, China.
  • Cheng Z; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, 200032, China.
  • Li X; Fudan Institute for Metabolic Diseases, Fudan University, Shanghai, 200032, China.
  • Lu Z; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, 200032, China.
  • Liu Y; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, 200032, China.
  • Guo J; Fudan Institute for Metabolic Diseases, Fudan University, Shanghai, 200032, China.
  • Chen X; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai, 200032, China.
  • He Y; Fudan Institute for Metabolic Diseases, Fudan University, Shanghai, 200032, China.
  • Guan X; Department of Urology, Zhongshan Hospital, Fudan University, Shanghai, 200032, China.
  • Xu X; Department of Urology, Zhongshan Hospital, Fudan University, Shanghai, 200032, China.
  • Wang Y; Department of Urology, Xiangya Hospital, Central South University, Changsha, 410008, China.
  • Liu J; Department of Urology, Xiangya Hospital, Central South University, Changsha, 410008, China.
  • Guo W; Department of Urology, Xiangya Hospital, Central South University, Changsha, 410008, China.
  • Hou Y; Department of Urology, Xiangya Hospital, Central South University, Changsha, 410008, China.
  • Liu L; Department of Urology, Xiangya Hospital, Central South University, Changsha, 410008, China.
  • Jiang J; Department of Urology, Xiangya Hospital, Central South University, Changsha, 410008, China.
  • Gao X; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, 200032, China.
J Clin Endocrinol Metab ; 107(5): e1835-e1842, 2022 04 19.
Article en En | MEDLINE | ID: mdl-35106577
CONTEXT: Pheochromocytomas and paragangliomas (PPGLs) are being increasingly discovered by imaging performed for unrelated conditions. The genetic landscape of incidental PPGLs remains to be elucidated. OBJECTIVE: We aimed to describe the genetic characteristics of PPGLs discovered incidentally in a large PPGL cohort. METHODS: This retrospective cross-sectional study included 697 patients with pathology confirmed PPGLs, including 283 incidentalomas and 414 nonincidentalomas, at 2 tertiary care centers in China in 2009-2019. Tumor DNA samples were sequenced by next-generation sequencing. Identified genetic mutations were confirmed by Sanger sequencing and tested in 277 available matched blood DNA samples. RESULTS: There was a lower proportion of patients with mutations identified (53% vs 63.3%; P = 0.0067) in incidental than nonincidental PPGLs. In incidental PPGLs, HRAS (11.7%), FGFR1 (11%), and RET (9.2%) were the top 3 mutated genes, whereas HRAS (17.9%), VHL (9.2%), and NF-1 (8.7%) exhibited the highest rate of mutations in nonincidental PPGLs. In incidental pheochromocytomas, the most frequently mutated genes were RET (10.9%), HRAS (10.4%), and VHL (8.6%), while in incidental paragangliomas, FGFR1 (32.8%), HRAS (16.4%), and EPAS1 (9.8%) topped the list. The frequency of NF-1 mutations was significantly lower in incidental than nonincidental pheochromocytomas (4.1% vs 11%; P = 0.0042), while FGFR1 mutations were far more common in incidental than nonincidental paragangliomas (32.8% vs 15.3%; P = 0.0076). CONCLUSION: More than half of patients with incidental PPGLs had mutations in common susceptibility genes. The search for susceptibility genes should take both the mode of discovery (incidental vs nonincidental) and tumor location (pheochromocytoma vs paraganglioma) into consideration.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraganglioma / Feocromocitoma / Neoplasias de las Glándulas Suprarrenales Tipo de estudio: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Clin Endocrinol Metab Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraganglioma / Feocromocitoma / Neoplasias de las Glándulas Suprarrenales Tipo de estudio: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Clin Endocrinol Metab Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos