Review
Oncology
Gildas Gabiache, Charline Zadro, Laura Rozenblum, Delphine Vezzosi, Celine Mouly, Matthieu Thoulouzan, Rosine Guimbaud, Philippe Otal, Lawrence Dierickx, Herve Rousseau, Christopher Trepanier, Laurent Dercle, Fatima-Zohra Mokrane
Summary: Summary Pheochromocytomas and paragangliomas (PPGLs) are rare neural-crest-derived tumors that present challenges in diagnosis and treatment due to their complexity. Medical imaging plays a crucial role in confirming the diagnosis, guiding surgical resection, and selecting appropriate therapies for these tumors. However, the conventional concepts of medical imaging are undergoing a paradigm shift with the development of radiomic and metabolic imaging. The use of artificial intelligence (AI) in PPGLs may provide valuable insights by detecting changes in tumor phenotype. Multicentric collaboration and further research are needed to validate and integrate these new imaging parameters into clinical practice. This review aims to provide a comprehensive tool for physicians dealing with PPGLs, augmented by perspectives of AI and big data.
Review
Endocrinology & Metabolism
Mickey J. M. Kuo, Matthew A. Nazari, Abhishek Jha, Karel Pacak
Summary: Pediatric pheochromocytomas and paragangliomas (PPGLs) have different characteristics and presentations compared to those in adults. These tumors are often associated with genetic predisposition in children, progress rapidly, and have persistent symptoms. Understanding the genetic basis of individual tumors is crucial for disease management, highlighting the need for pediatricians to recognize these differences and conduct timely evaluations.
FRONTIERS IN ENDOCRINOLOGY
(2022)
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
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)
Review
Urology & Nephrology
Jose Viana Lima Junior, Claudio Elias Kater
Summary: Pheochromocytomas/paragangliomas (PPGL) are rare, metastatic, and potentially fatal neuroendocrine tumors with symptoms similar to other prevalent conditions, leading to delayed diagnosis and treatment. The diagnosis rate of PPGL is increasing with improved measurements and imaging procedures. Extensive research has been conducted on the genetic basis of PPGL, with more than 20 genes currently associated and potentially more to be discovered. This overview covers the clinical, laboratory, topographical, genetic diagnosis, and management of PPGL.
INTERNATIONAL BRAZ J UROL
(2023)
Article
Endocrinology & Metabolism
Stefanie Parisien-La Salle, Mathieu Provencal, Isabelle Bourdeau
Summary: The study found that CgA is a sensitive marker for diagnosing PHEO and thoracoabdominal paragangliomas. Additionally, CgA may have potential in monitoring nonfunctional PGLs as a tumor marker, as well as complementary role in early detection of recurrence in secreting PPGLs.
ENDOCRINE PRACTICE
(2021)
Article
Endocrinology & Metabolism
Roderick J. Clifton-Bligh
Summary: Diagnosis of pheochromocytoma or paraganglioma (PPGL) during pregnancy has historically led to high rates of maternal and fetal morbidity and mortality. Recent evidence suggests that early recognition of PPGL and appropriate medical management can improve outcomes. The need for antepartum surgery and the mode of delivery in PPGL cases are still controversial. It is important to offer genetic counseling and testing to women with PPGL in pregnancy, as they are often associated with heritable syndromes.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
(2023)
Review
Endocrinology & Metabolism
Graeme Eisenhofer, Mirko Peitzsch, Nicole Bechmann, Angela Huebner
Summary: Catecholamine-producing tumors of childhood, including neuroblastoma, pheochromocytoma, and paraganglioma, have different diagnostic methods. While biopsy-dependent histopathology is used for neuroblastoma, biochemical tests for catecholamine excess are crucial for the diagnosis of PPGL. However, there are challenges in using these tests in children, and the true prevalence of childhood PPGL may be underestimated. Early identification and accurate diagnosis are important for improving therapeutic outcomes.
FRONTIERS IN ENDOCRINOLOGY
(2022)
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)
Review
Medicine, General & Internal
Bartosz Kamil Sobocki, Adrian Perdyan, Olga Szot, Jacek Rutkowski
Summary: Paraganglioma and pheochromocytoma are rare medical conditions with limited studies and data, making clinical decisions challenging. This study suggests the importance of monitoring metoxycatecholamine levels and using appropriate diagnostic imaging methods, especially during pandemics. The research also summarizes the molecular background of these diseases and explores their future role in clinical management.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Oncology
R. Garcia-Carbonero, F. Matute Teresa, E. Mercader-Cidoncha, M. Mitjavila-Casanovas, M. Robledo, I. Tena, C. Alvarez-Escola, M. Aristegui, M. R. Bella-Cueto, C. Ferrer-Albiach, F. A. Hanzu
Summary: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with complex diagnosis and treatment due to heterogeneity in etiology. This article provides practical clinical guidelines from a multidisciplinary perspective, covering various aspects including epidemiology, diagnosis, treatment, and follow-up recommendations.
CLINICAL & TRANSLATIONAL ONCOLOGY
(2021)
Review
Surgery
Jue Wang, Qingyuan Liu, Shihao Jiang, Jindong Zhang, Jinke He, Yunfan Li, Delin Wang
Summary: Preoperative alpha-blockade does not improve intraoperative hemodynamics or perioperative outcomes for patients undergoing PPGL surgery compared to no blockade. However, there is a higher incidence of postoperative hypotension and vasopressor usage with alpha-blockade. Larger randomized controlled trials are needed to confirm these findings.
INTERNATIONAL JOURNAL OF SURGERY
(2023)
Article
Endocrinology & Metabolism
Jiyeon Ahn, Ji Yun Park, Gyuri Kim, Sang-Man Jin, Kyu Yeon Hur, Soo-Youn Lee, Jae Hyeon Kim
Summary: Urinary free metanephrines are a reliable method for diagnosing PPGL in Asian populations, with high diagnostic accuracy. Compared to urinary fractionated metanephrines and plasma free metanephrines, urinary free metanephrines have similar AUC.
ENDOCRINOLOGY AND 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
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
Clinical Neurology
T. H. Vu, D. Schellingerhout, N. Guha-Thakurta, J. Sun, W. Wei, S. C. Kappadth, N. Perrier, E. E. Kim, E. Rohren, H. H. Chuang, F. C. Wong
AMERICAN JOURNAL OF NEURORADIOLOGY
(2019)
Article
Surgery
Sarah B. Fisher, Gilbert J. Cote, Jacquelin H. Bui-Griffith, Wei Lu, Ximing Tang, Tao Hai, Kevin E. Fisher, Michelle D. Williams, Ignacio I. Wistuba, Steven G. Waguespack, Clark M. Dorman, Michelle S. Ludwig, Paul H. Graham, Nancy D. Perrier, Jeffrey E. Lee, Elizabeth G. Grubbs
Article
Endocrinology & Metabolism
Marloes Nies, Rena Vassilopoulou-Sellin, Roland L. Bassett, Sireesha Yedururi, Mark E. Zafereo, Maria E. Cabanillas, Steven Sherman, Thera P. Links, Steven G. Waguespack
Summary: Most patients with childhood DTC and DM were female and had PTC. Despite multiple RAI treatments, persistent disease was common among patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Mimi Hu, Steven G. Waguespack, Chrysoula Dosiou, Paul W. Ladenson, Masha J. Livhits, Lori J. Wirth, Peter M. Sadow, Jeffrey F. Krane, Brendan C. Stack, Mark E. Zafereo, Syed Z. Ali, Steven P. Weitzman, Yangyang Hao, Joshua E. Babiarz, Giulia C. Kennedy, Richard T. Kloos
Summary: A large study of molecular findings in thyroid fine-needle aspiration samples revealed that almost half of suspicious nodules and the majority of Bethesda V/VI nodules had at least one genomic variant or fusion identified, potentially optimizing personalized treatment decisions.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Marilyne Daher, Jeena Varghese, Stephen K. Gruschkus, Camilo Jimenez, Steven G. Waguespack, Sara Bedrose, Lina Altameemi, Hadil Bazerbashi, Aung Naing, Vivek Subaiah, Matthew T. Campbell, Amishi Y. Shah, Miao Zhang, Rahul A. Sheth, Jose A. Karam, Christopher G. Wood, Nancy D. Perrier, Paul H. Graham, Jeffery E. Lee, Mouhammed Amir Habra
Summary: This study reports that the disease burden and clinical outcomes of adrenocortical carcinoma (ACC) have improved over the past two decades. More patients underwent complete surgical resection and received multiple lines of systemic therapy, indicating the importance of these advancements for guiding management strategies.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Surgery
Jace P. Landry, Carolina R. C. Pieterman, Uriel Clemente-Gutierrez, Elizabeth G. Grubbs, Sarah B. Fisher, Paul H. Graham, Steven G. Waguespack, Nancy D. Perrier
Summary: This study evaluated the risk factors and long-term outcomes of postoperative hypoparathyroidism in patients with multiple endocrine neoplasia type 1. It was found that the odds of prolonged hypoparathyroidism were higher when four or more glands were resected and when the postoperative parathyroid hormone level was below 15 pg/mL. Some patients spontaneously recovered parathyroid function postoperatively, but the likelihood of recovery was lower in patients with four or more glands resected or no parathyroid function at six months postoperatively. Cryopreservation can be used sparingly, but with caution, in high-risk patients.
Article
Endocrinology & Metabolism
Steven G. Waguespack, Alexander Drilon, Jessica J. Lin, Marcia S. Brose, Ray McDermott, Mohammed Almubarak, Jessica Bauman, Michela Casanova, Anuradha Krishnamurthy, Shivaani Kummar, Serge Leyvraz, Do-Youn Oh, Keunchil Park, Davendra Sohal, Eric Sherman, Ricarda Norenberg, Josh D. Silvertown, Nicoletta Brega, David S. Hong, Maria E. Cabanillas
Summary: This study evaluated the efficacy and safety of Larotrectinib in patients with TRK fusion-positive thyroid carcinoma. The results showed that Larotrectinib demonstrated rapid and durable disease control and a favorable safety profile in these patients, making it a potential treatment option for advanced thyroid carcinoma.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Review
Endocrinology & Metabolism
John P. Bilezikian, Aliya A. Khan, Shonni J. Silverberg, Ghada El-Hajj Fuleihan, Claudio Marcocci, Salvatore Minisola, Nancy Perrier, Antonio Sitges-Serra, Rajesh Thakker, Gordon Guyatt, Michael Mannstadt, John T. Potts, Bart L. Clarke, Maria Luisa Brandi
Summary: The last international guidelines on the evaluation and management of primary hyperparathyroidism (PHPT) were published in 2014. New research since then has led to new insights in epidemiology, pathophysiology, diagnosis, measurements, genetics, outcomes, presentations, new imaging modalities, target and other organ systems, pregnancy, evaluation, and management. An international group of experts reviewed these advances in knowledge and provided evidence-based recommendations and guidelines for the evaluation and management of PHPT.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Endocrinology & Metabolism
Nancy Perrier, Brian H. Lang, Leonardo Costa Bandeira Farias, Leyre Lorente Poch, Mark Sywak, Martin Almquist, Menno R. Vriens, Michael W. Yeh, Omair Shariq, Quan-Yang Duh, Randy Yeh, Thinh Vu, Virginia LiVolsi, Antonio Sitges-Serra
Summary: This review provides an update on the surgical aspects of primary hyperparathyroidism (PHPT), focusing on parathyroidectomy (PTX) as the treatment of choice. The review proposes definitions for different types of PTX procedures and discusses various aspects of surgery, including intraoperative management and postoperative complications. It also covers the use of intraoperative parathyroid hormone (PTH) measurement and the management of low bone mineral density (BMD) after PTX. The review represents the first global consensus on surgery in PHPT and reflects current practices in leading endocrine surgery units worldwide.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Endocrinology & Metabolism
Camilo Jimenez, Junsheng Ma, Alejandro Roman Gonzalez, Jeena Varghese, Miao Zhang, Nancy Perrier, Mouhammed Amir Habra, Paul Graham, Steven G. Waguespack
Summary: This study investigated the association between TNM staging and overall survival (OS) in PPGL tumors. The results showed a significant correlation between TNM staging and OS, with hereditary disease not having worse survival rates compared to sporadic disease. Stage IV disease had a significantly shorter OS, suggesting the need for adjustments in future staging systems.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Letter
Surgery
Michael S. S. Lui, Nancy D. D. Perrier
WORLD JOURNAL OF SURGERY
(2023)
Article
Oncology
Steven G. Waguespack, Sanjit O. Tewari, Naifa L. Busaidy, Mark E. Zafereo
JCO PRECISION ONCOLOGY
(2022)
Article
Health Care Sciences & Services
Danielle Shojaie, Aubri S. Hoffman, Ruth Amaku, Maria E. Cabanillas, Julie Ann Sosa, Steven G. Waguespack, Mark E. Zafereo, Mimi Hu, Elizabeth E. Grubbs
Summary: This study aimed to develop a web-based patient decision aid for cancer patients in the chronic phase, addressing the complex decision-making needs of patients, families, and providers. Through stakeholder engagement, decision pathways mapping, and thematic analyses, the study identified the necessity for tailored support over time and explicit addressing of uncertainty, quality of life, and realistic expectations. Both patients and providers emphasized the importance of plain language, shared decision making, and specific information to support decision-making in the context of cancer treatment.
JMIR FORMATIVE RESEARCH
(2021)
Meeting Abstract
Endocrinology & Metabolism
D. J. Van Beek, P. Goudet, D. K. Bartsch, N. D. Perrier, M. L. Brandi, N. Nilubol, L. Brunaud, J. D. Pasternak, C. Sturgeon, Borel I. H. M. Rinkes, G. D. Valk, M. Vriens
NEUROENDOCRINOLOGY
(2019)
Article
Endocrinology & Metabolism
Callisia N. Clarke, Panagiotis Katsonis, Teng-Kuei Hsu, Amanda M. Koire, Angelica Silva-Figueroa, Ioannis Christakis, Michelle D. Williams, Merve Kutahyalioglu, Lily Kwatampora, Yuanxin Xi, Jeffrey E. Lee, E. Scott Koptez, Naifa L. Busaidy, Nancy D. Perrier, Olivier Lichtarge
JOURNAL OF THE ENDOCRINE SOCIETY
(2019)