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
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
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
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)
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)
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
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
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
Endocrinology & Metabolism
Dahlia F. Davidoff, Diana E. Benn, Michael Field, Ashley Crook, Bruce G. Robinson, Katherine Tucker, Richard De Abreu Lourenco, John R. Burgess, Roderick J. Clifton-Bligh
Summary: Tumors detected through surveillance in carriers of SDHB pathogenic variants (PVs) were smaller, had a reduced risk of metastatic disease, and lower mortality rate compared to probands.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Clotilde Saie, Alexandre Buffet, Juliette Abeillon, Delphine Drui, Sophie Leboulleux, Jerome Bertherat, Delphine Zenaty, Caroline Storey, Francoise Borson-Chazot, Nelly Burnichon, Marie Vincent, Judith Favier, Eric Baudin, Sophie Giraud, Anne-Paule Gimenez-Roqueplo, Laurence Amar, Charlotte Lussey-Lepoutre
Summary: The study demonstrated that imaging screening could detect tumors in a significant proportion of asymptomatic SDHX mutation carriers, with a higher detection rate observed in SDHD mutation carriers compared to SDHB and SDHC.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
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)
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.
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
De Filpo Giuseppina, Parenti Gabriele, Sparano Clotilde, Rastrelli Giulia, Rapizzi Elena, Martinelli Serena, Amore Francesca, Badii Benedetta, Paolo Prosperi, Ercolino Tonino, Mannelli Massimo, Maggi Mario, Canu Letizia
Summary: This retrospective study aimed to assess the risk factors involved in perioperative hemodynamic instability in patients undergoing surgery for PHEO/abdominal PGL. The results showed a correlation between preoperative therapy and intraoperative hemodynamic instability, with a higher use of intraoperative drugs in unstable patients. Therefore, preoperative use of alpha-blockers is only a part of preventing surgical risks. Preoperative and intraoperative blood pressure levels were also identified as effective indicators for predicting postoperative hemodynamic instability.
WORLD JOURNAL OF SURGICAL ONCOLOGY
(2023)