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Sino-European Differences in the Genetic Landscape and Clinical Presentation of Pheochromocytoma and Paraganglioma

Jiang, Jingjing (författare)
Zhongshan Hosp, Dept Endocrinol & Metab, Shanghai, Peoples R China.;Fudan Univ, Fudan Inst Metab Dis, Shanghai, Peoples R China.
Zhang, Jing (författare)
Zhongshan Hosp, Dept Endocrinol & Metab, Shanghai, Peoples R China.;Fudan Univ, Fudan Inst Metab Dis, Shanghai, Peoples R China.
Pang, Yingxian (författare)
Cent South Univ, Xiangya Hosp, Dept Urol, 87 Xiangya Rd, Changsha 410008, Hunan, Peoples R China.
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Bechmann, Nicole (författare)
Tech Univ Dresden, Inst Clin Chem & Lab Med, Dresden, Germany.;Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Dept Med 3, Dresden, Germany.;German Inst Human Nutr Potsdam Rehbrucke, Dept Expt Diabetol, Nuthetal, Germany.;German Ctr Diabet Res, Munich, Germany.
Li, Minghao (författare)
Cent South Univ, Xiangya Hosp, Dept Urol, 87 Xiangya Rd, Changsha 410008, Hunan, Peoples R China.;Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Dept Med 3, Dresden, Germany.
Monteagudo, Maria (författare)
Spanish Natl Canc Res Ctr, Hereditary Endocrine Canc Grp, Madrid, Spain.;Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain.
Calsina, Bruna (författare)
Spanish Natl Canc Res Ctr, Hereditary Endocrine Canc Grp, Madrid, Spain.;Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain.
Gimenez-Roqueplo, Anne-Paule (författare)
Hop Europeen Georges Pompidou, AP HP, Genet Dept, Paris, France.;Univ Paris, Equipe Labellisee Ligue Canc, INSERM, PARCC, Paris, France.
Noelting, Svenja (författare)
Ludwig Maximilians Univ Munchen, Dept Med 4, Univ Hosp, Munich, Germany.
Beuschlein, Felix (författare)
Ludwig Maximilians Univ Munchen, Dept Med 4, Univ Hosp, Munich, Germany.;Univ Spital Zurich, Dept Endocrinol Diabetol & Clin Nutr, Zurich, Switzerland.
Fassnacht, Martin (författare)
Univ Wurzburg, Univ Hosp, Dept Internal Med 1, Div Endocrinol & Diabet, Wurzburg, Germany.
Deutschbein, Timo (författare)
Univ Wurzburg, Univ Hosp, Dept Internal Med 1, Div Endocrinol & Diabet, Wurzburg, Germany.
Timmers, Henri J. L. M. (författare)
Radboud Univ Nijmegen, Dept Internal Med, Med Ctr, Nijmegen, Netherlands.
Åkerström, Tobias (författare)
Uppsala universitet,Experimentell kirurgi
Crona, Joakim (författare)
Uppsala universitet,Experimentell kirurgi
Quinkler, Marcus (författare)
Endocrinol Charlottenburg, Berlin, Germany.
Fliedner, Stephanie M. J. (författare)
Univ Med Ctr Schleswig Holstein, Dept Med 1, Lubeck, Germany.
Liu, Yujun (författare)
Fudan Univ, Zhongshan Hosp, Dept Urol, Shanghai, Peoples R China.
Guo, Jianming (författare)
Fudan Univ, Zhongshan Hosp, Dept Urol, Shanghai, Peoples R China.
Li, Xiaomu (författare)
Zhongshan Hosp, Dept Endocrinol & Metab, Shanghai, Peoples R China.;Fudan Univ, Fudan Inst Metab Dis, Shanghai, Peoples R China.
Guo, Wei (författare)
Fudan Univ, Zhongshan Hosp, Dept Lab Med, Shanghai, Peoples R China.
Hou, Yingyong (författare)
Fudan Univ, Zhongshan Hosp, Dept Pathol, Shanghai, Peoples R China.
Wang, Cikui (författare)
Cent South Univ, Xiangya Hosp, Dept Urol, 87 Xiangya Rd, Changsha 410008, Hunan, Peoples R China.
Zhang, Liang (författare)
Cent South Univ, Xiangya Hosp, Dept Urol, 87 Xiangya Rd, Changsha 410008, Hunan, Peoples R China.
Xiao, Qiao (författare)
Cent South Univ, Xiangya Hosp, Dept Urol, 87 Xiangya Rd, Changsha 410008, Hunan, Peoples R China.
Liu, Longfei (författare)
Cent South Univ, Xiangya Hosp, Dept Urol, 87 Xiangya Rd, Changsha 410008, Hunan, Peoples R China.
Gao, Xin (författare)
Zhongshan Hosp, Dept Endocrinol & Metab, Shanghai, Peoples R China.;Fudan Univ, Fudan Inst Metab Dis, Shanghai, Peoples R China.
Burnichon, Nelly (författare)
Hop Europeen Georges Pompidou, AP HP, Genet Dept, Paris, France.;Univ Paris, Equipe Labellisee Ligue Canc, INSERM, PARCC, Paris, France.
Robledo, Mercedes (författare)
Spanish Natl Canc Res Ctr, Hereditary Endocrine Canc Grp, Madrid, Spain.;Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain.
Eisenhofer, Graeme (författare)
Tech Univ Dresden, Inst Clin Chem & Lab Med, Dresden, Germany.;Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Dept Med 3, Dresden, Germany.
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Zhongshan Hosp, Dept Endocrinol & Metab, Shanghai, Peoples R China;Fudan Univ, Fudan Inst Metab Dis, Shanghai, Peoples R China. Cent South Univ, Xiangya Hosp, Dept Urol, 87 Xiangya Rd, Changsha 410008, Hunan, Peoples R China. (creator_code:org_t)
2020-08-05
2020
Engelska.
Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 105:10
Relaterad länk:
https://urn.kb.se/re...
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https://doi.org/10.1...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Context: Pheochromocytomas and paragangliomas (PPGLs) are characterized by distinct genotype-phenotype relationships according to studies largely restricted to Caucasian populations.Objective: To assess for possible differences in genetic landscapes and genotype-phenotype relationships of PPGLs in Chinese versus European populations.Design: Cross-sectional study.Setting: 2 tertiary-care centers in China and 9 in Europe.Participants: Patients with pathologically confirmed diagnosis of PPGL, including 719 Chinese and 919 Europeans.Main Outcome Measures: Next-generation sequencing performed in tumor specimens with mutations confirmed by Sanger sequencing and tested in peripheral blood if available. Frequencies of mutations were examined according to tumor location and catecholamine biochemical phenotypes.Results: Among all patients, higher frequencies of HRAS, FGFR1, and EPAS1 mutations were observed in Chinese than Europeans, whereas the reverse was observed for NF1, VHL, RET, and SDHx. Among patients with apparently sporadic PPGLs, the most frequently mutated genes in Chinese were HRAS (16.5% [13.6-19.3] vs 9.8% [7.6-12.1]) and FGFR1 (9.8% [7.6-12.11 vs 2.2% [1.1-3.3]), whereas among Europeans the most frequently mutated genes were NF1 (15.9% [13.2-18.6) vs 6.6% [4.7-8.5)) and SDHx (10.7% [8.4-13.0] vs 4.2% [2.6-5.7]). Among Europeans, almost all paragangliomas lacked appreciable production of epinephrine and identified gene mutations were largely restricted to those leading to stabilization of hypoxia inducible factors. In contrast, among Chinese there was a larger proportion of epinephrine-producing paragangliomas, mostly due to HRAS and FGFR1 mutations.Conclusions: This study establishes Sino-European differences in the genetic landscape and presentation of PPGLs, including ethnic differences in genotype-phenotype relationships indicating a paradigm shift in our understanding of the biology of these tumors.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)

Nyckelord

pheochromocytoma
paraganglioma
HRAS
FGFR1
adrenergic
genetics

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