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research / researchpheochromocytoma and paraganglioma

Karel Pacak

卡雷尔·帕卡克

MD, PhD, DrSc

🏢National Institute of Child Health and Human Development, NIH(美国国立儿童健康与人类发展研究所)🌐USA

Senior Investigator高级研究员

70
h-index
2
Key Papers
2
Awards
2
Key Contributions

👥Biography 个人简介

Karel Pacak is the leading NIH authority on pheochromocytoma and paraganglioma who has made foundational contributions to the molecular classification and management of these rare adrenal tumors. His laboratory pioneered the molecular classification of PPGL into pseudohypoxia, kinase signaling, and Wnt signaling clusters based on underlying driver mutations (SDH, VHL, RET, NF1, TMEM127). Pacak has developed enhanced approaches to biochemical diagnosis using fractionated metanephrines and 3-methoxytyramine, and has contributed to development of 18F-FDOPA and 68Ga-DOTATATE PET imaging for PPGL staging. He leads the NIH PPGL registry and molecular profiling program.

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🧪Research Fields 研究领域

pheochromocytoma嗜铬细胞瘤
paraganglioma副神经节瘤
SDH mutationsSDH突变
pseudohypoxia cluster假缺氧簇
131I-MIBG therapy131I-MIBG治疗

🎓Key Contributions 主要贡献

PPGL Molecular Classification

Developed the molecular classification system for pheochromocytoma-paraganglioma based on underlying genetic driver, dividing tumors into pseudohypoxia (SDH/VHL), kinase (RET/NF1), and Wnt clusters with distinct biology and treatment implications.

Biochemical and Imaging Diagnostics

Established fractionated plasma metanephrines as superior biochemical test for PPGL diagnosis and contributed to evaluation of 68Ga-DOTATATE and 18F-FDOPA PET imaging for staging and treatment planning.

Representative Works 代表性著作

[1]

Pheochromocytoma: Recommendations for Clinical Practice from the First International Symposium

Nature Clinical Practice Endocrinology and Metabolism (2007)

International consensus on PPGL diagnosis and management.

[2]

New Insights into the Classification of Chromaffin Cell Tumors

Annual Review of Pathology (2013)

Molecular clustering framework for PPGL.

🏆Awards & Recognition 奖项与荣誉

🏆Endocrine Society Distinguished Clinical Scientist Award
🏆NIH Clinical Center Director Award

📄Data Sources 数据来源

Last updated: 2026-01-15 | All information from publicly available academic sources

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