Article
Endocrinology & Metabolism
Minghao Li, Yazhi He, Yingxian Pang, Jing Zhang, Yu Feng, Yao He, Xiaowen Xu, Yongbao Wei, Dewen Zhong, Wanglong Deng, Long Wang, Bin Yan, Yazhuo Jiang, Ning Xu, Hai Cai, Yanlin Wen, Jinzhuo Ning, Yujun Liu, Xin Gao, Zhongyan Shan, Longfei Liu, Xiaochun Teng, Susan Richter, Jingjing Jiang
Summary: This study investigates the prevalence of IDH1 hotspot variants and associated phenotypes in a Chinese population with PPGL. The results show a low prevalence of IDH1 hotspot variants in Chinese PPGL patients, especially in those with apparently sporadic paragangliomas without mutations in major PPGL driver genes and with a non-adrenergic phenotype.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medicine, General & Internal
Junne Kamihara, Kayla V. Hamilton, Jessica A. Pollard, Catherine M. Clinton, Jill A. Madden, Jasmine Lin, Alma Imamovic, Catherine B. Wall, Ari J. Wassner, Brent R. Weil, Matthew M. Heeney, Sara O. Vargas, William G. Kaelin, Katherine A. Janeway, Rodolfo F. Perini, Naseem J. Zojwalla, Stephan D. Voss, Steven G. DuBois
Summary: Treatment with belzutifan in a patient with Pacak-Zhuang syndrome led to tumor regression, normalized hemoglobin levels, and symptom resolution, demonstrating the effectiveness of targeted therapy for rare tumor predisposition syndromes.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Endocrinology & Metabolism
Jing Zhang, Minghao Li, Yingxian Pang, Cikui Wang, Jingjing Wu, Ziyun Cheng, Xiaomu Li, Zhiqiang Lu, Yujun Liu, Jianming Guo, Xiang Chen, Yao He, Xiao Guan, Xiaowen Xu, Yong Wang, Jiahao Liu, Wei Guo, Yingyong Hou, Longfei Liu, Jingjing Jiang, Xin Gao
Summary: 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 and tumor location into consideration.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Lauren N. Krumeich, Andrew J. Cucchiara, Katherine L. Nathanson, Rachel R. Kelz, Lauren Fishbein, Douglas L. Fraker, Robert E. Roses, Debbie L. Cohen, Heather Wachtel
Summary: This study found close relationships between plasma catecholamines and their metabolites with body weight and glucose control in pheochromocytomas and paragangliomas. After surgery, decreasing normetanephrine levels were associated with improved glucose control despite an increase in body weight. Persistently elevated catecholamines and weight loss were observed in metastatic and/or recurrent disease.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Medicine, General & Internal
Lin Zhao, Ting Zhang, Xu Meng, Zenglei Zhang, Yi Zhou, Hua Fan, Yecheng Liu, Xianliang Zhou, Huadong Zhu
Summary: This study analyzed the clinical data of 163 patients with pheochromocytomas and paragangliomas (PPGLs) and found that approximately half of the patients had dysglycemia before surgery. Age, hypertension, and the 24hU-E concentration were identified as risk factors for preoperative dysglycemia. Surgery improved dysglycemia in the majority of patients, and the remission of dysglycemia after surgery was associated with a larger preoperative tumor diameter.
ANNALS OF MEDICINE
(2023)
Article
Endocrinology & Metabolism
Gregory A. Kline, Jessica Boyd, Brenda Polzin, Adrian Harvey, Janice L. Pasieka, Hossein S. M. Sadrzadeh, Alexander A. Leung
Summary: The study found a poor-to-moderate correlation between urine and seated plasma metanephrines in outpatients without PPGL. Approximately 20% of high-risk patients with high urine metanephrines in the absence of PPGL also had high seated plasma metanephrines.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Lei Zheng, Yalong Gu, Jiangcun Silang, Jinlong Wang, Feng Luo, Baopeng Zhang, Chuanhong Li, Feng Wang
Summary: This study successfully constructed nomograms for predicting the overall survival (OS) and cancer-specific survival (CSS) of patients with malignant PPGL. The nomograms were found to be accurate and reliable in predicting patient outcomes, providing valuable information for personalized clinical management.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Constance Lamy, Hubert Tissot, Matthieu Faron, Eric Baudin, Livia Lamartina, Caroline Pradon, Abir Al Ghuzlan, Sophie Leboulleux, Jean-Luc Perfettini, Angelo Paci, Julien Hadoux, Sophie Broutin
Summary: In this study, serum succinate levels were found to be a potential biomarker for identifying carriers of SDHB gene mutations and a marker of metabolic tumor burden in patients with metastatic PPGL. It may also serve as a marker for treatment response and follow-up.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Multidisciplinary Sciences
Xiaosen Ma, Yunying Cui, Yinjie Gao, Xuebin Zhang, Min Nie, Anli Tong
Summary: This study identifies variants in the fumarate hydratase (FH) gene that are associated with pheochromocytoma/paraganglioma (PPGL). It also reports the first instance of mosaicism in FH. The findings highlight the importance of considering both germline variants and mosaicism in genetic testing for PPGL.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2022)
Review
Oncology
Sakshi Jhawar, Yasuhiro Arakawa, Suresh Kumar, Diana Varghese, Yoo Sun Kim, Nitin Roper, Fathi Elloumi, Yves Pommier, Karel Pacak, Jaydira Del Rivero
Summary: Pheochromocytomas and paragangliomas are rare neuroendocrine tumors, and approximately 40% of cases are associated with genetic mutations. These mutations can influence the clinical presentation, prognosis, and follow-up of patients. Genetic testing allows for early detection of hereditary syndromes and close monitoring of high-risk patients.
Article
Oncology
Francesca Torresan, Arianna Beber, Donatella Schiavone, Stefania Zovato, Francesca Galuppini, Filippo Crimi, Filippo Ceccato, Maurizio Iacobone
Summary: The study analyzed the long-term outcomes in 170 patients who underwent surgery for pheochromocytoma and sympathetic paraganglioma (PHEO/sPGL). It was found that even apparently benign and sporadic variants had a risk of long-term recurrence, highlighting the importance of lifelong follow-up.
Article
Endocrinology & Metabolism
Hyojung Park, Min-Sun Kim, Jiwon Lee, Jung-Han Kim, Byong Chang Jeong, Sanghoon Lee, Suk-Koo Lee, Sung Yoon Cho, Dong-Kyu Jin
Summary: This study demonstrates that pediatric PPGL tends to be extra-adrenal and bilateral, with a higher potential for genetic mutations. Genetic screening tests are strongly recommended for pediatric PPGL due to their hereditary predisposition, and lifelong follow-up is necessary to detect recurrence and metastasis. Further research with a larger sample size and routine genetic screening is needed to better understand the genetic conditions and long-term prognosis of PPGL.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Genetics & Heredity
Chong Li, Jingyi Li, Chao Han, Ting Wang, Lixia Zhang, Zhifang Wang, Tingting Wang, Lijun Xu, Guangzhao Qi, Guijun Qin, Xialian Li, Lili Zheng
Summary: This study investigated the clinical and genetic characteristics of 22 individuals from six families with pheochromocytoma and paraganglioma. Whole exome sequencing identified six different genetic variants, including three novel variants. The findings contribute to the understanding of the genetic etiology and clinical outcome of these tumors.
FRONTIERS IN GENETICS
(2023)
Review
Endocrinology & Metabolism
Taymeyah Al-Toubah, Jonathan Strosberg, Julie Hallanger-Johnson, Ghassan El-Haddad
Summary: Targeted radionuclide therapy is playing an increasingly important role in the management of endocrine-related tumors. The field is exploring new strategies to increase efficacy and personalize the selection of patients. Novel agents and therapies are also being investigated.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Katharina Wang, Joakim Crona, Felix Beuschlein, Ashley B. Grossman, Karel Pacak, Svenja Noelting
Summary: Molecular targeted therapy plays an important role in the treatment of metastatic pheochromocytomas and paragangliomas. Some therapies are already in use with promising results, while others are still under evaluation in clinical trials. The development of molecular targeted therapies is of great significance for future tumor treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)