Review
Endocrinology & Metabolism
Dan Granberg, Carl Christofer Juhlin, Henrik Falhammar
Summary: PPGLs are believed to have malignant potential, and a combination of histological workup and molecular predictive markers is important for determining metastatic potential. Patients with PPGLs should receive individualized treatment, including surgery, biochemical tests, genetic testing, and molecular imaging studies.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Oncology
Antje Redlich, Christina Pamporaki, Lienhard Lessel, Michael C. Fruhwald, Peter Vorwerk, Michaela Kuhlen
Summary: Most pediatric PPGLs belong to the pseudohypoxia subgroup, associated with a high risk of subsequent PPGL events and metastatic disease. Comprehensive molecular profiling of children and adolescents with newly diagnosed PPGLs will open new avenues for personalized diagnosis, treatment, and surveillance.
PEDIATRIC BLOOD & CANCER
(2021)
Review
Pediatrics
Kevin Yen, Maya Lodish
Summary: Genetics play a crucial role in pediatric PPGLs, with somatostatin receptor-based imaging technologies like Ga-68-DOTATATE and Cu-64-DOTATATE being the preferred modalities. Peptide receptor radionuclide therapy (PRRT) has shown efficacy in treating PPGLs, alongside surgical intervention.
CURRENT OPINION IN PEDIATRICS
(2021)
Review
Oncology
Jan Calissendorff, Carl Christofer Juhlin, Irina Bancos, Henrik Falhammar
Summary: Pheochromocytomas and abdominal paragangliomas (PPGLs) are rare tumors that can be discovered incidentally or during hormonal surveillance. Most cases are asymptomatic or have non-specific symptoms. PPGLs have malignant potential and require close surveillance. Genetic susceptibility is important for predicting the risk of recurrence or metastasis and identifying affected family members. Multidisciplinary management is essential for patients with PPGLs.
Review
Oncology
Shahida K. Flores, Cynthia M. Estrada-Zuniga, Keerthi Thallapureddy, Gustavo Armaiz-Pena, Patricia L. M. Dahia
Summary: The review explores the impact of rare mutations in hypoxia-related genes on the initiation and management of pheochromocytoma and paraganglioma, highlighting the challenges in predicting variant pathogenicity, identifying new functional domains, understanding environmental-gene connections, and addressing therapeutic difficulties in aggressive tumors.
Article
Endocrinology & Metabolism
Lin Zhao, ZhiMao Li, Xu Meng, Hua Fan, ZengLei Zhang, ZhaoCai Zhang, YeCheng Liu, XianLiang Zhou, HuaDong Zhu
Summary: This study found significant differences in clinical characteristics between large and small pheochromocytomas and paragangliomas (PPGLs). Male patients were more likely to have large tumors, and large tumors were more likely to be located on the adrenal glands. Catecholamine measurements also helped predict tumor size of PPGLs.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medical Laboratory Technology
Karin Eijkelenkamp, Thamara E. Osinga, Martijn van Faassen, Ido P. Kema, Michiel N. Kerstens, Karel Pacak, Wim J. Sluiter, Thera P. Links, Anouk N. A. van der Horst-Schrivers
Summary: The study suggests that salivary metanephrines have high sensitivity and accuracy in diagnosing PPGL, with a significant correlation to plasma metanephrines. However, salivary metanephrines cannot fully replace the measurement of plasma free metanephrines at present.
CLINICAL CHEMISTRY
(2021)
Review
Endocrinology & Metabolism
Xu Wang, Yang Zhao, Zhangcheng Liao, Yushi Zhang
Summary: PCC/PGL are neuroendocrine tumors that secrete catecholamines, also known as PPGL due to their histological and pathophysiological similarities. In addition to the typical triad of symptoms, PPGL may also present with symptoms involving multiple organs and systems. Surgical resection is currently the preferred treatment for PPGL, with the goal of safe and effective management. This paper discusses the surgical management strategy based on complicated PPGL cases, aiming to share our experience.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Balazs Sarkadi, Eva Saskoi, Henriett Butz, Attila Patocs
Summary: Pheochromocytomas and paragangliomas are the most heritable endocrine tumors, most of which are benign and can be resolved through surgical removal. However, a small percentage are malignant with limited therapeutic options available.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biology
Anastasiya Snezhkina, Vladislav Pavlov, Alexey Dmitriev, Nataliya Melnikova, Anna Kudryavtseva
Summary: Paragangliomas and pheochromocytomas are rare neuroendocrine tumors with potential for metastasis. Challenges in diagnosis and treatment remain, but research on predictors of malignancy risk could lead to more effective strategies.
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
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
Pathology
Ozgur Mete, Sara Pakbaz, Antonio M. Lerario, Thomas J. Giordano, Sylvia L. Asa
Summary: Alpha-inhibin is a highly sensitive marker for SDHx/VHL-driven pseudohypoxic PPGLs, while CAIX is the most specific biomarker of VHL-related pathogenesis. However, alpha-inhibin is not a specific marker of adrenal cortical differentiation and has some issues with specificity.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2021)
Article
Cell Biology
Qianjin Guo, Zi-Ming Cheng, Hector Gonzalez-Cantu, Matthew Rotondi, Gabriela Huelgas-Morales, Purushoth Ethiraj, Zhijun Qiu, Jonathan Lefkowitz, Wan Song, Bethany N. Landry, Hector Lopez, Cynthia M. Estrada-Zuniga, Shivi Goyal, Mohammad Aasif Khan, Timothy J. Walker, Exing Wang, Faqian Li, Yanli Ding, Lois M. Mulligan, Ricardo C. T. Aguiar, Patricia L. M. Dahia
Summary: TMEM127 gene mutation leads to pheochromocytomas, and the mutated tumors share precursor cells and transcription regulatory elements with pheochromocytomas carrying RET mutations. In addition, TMEM127 mutation results in the accumulation and increased signaling of RET, and TMEM127 contributes to RET cellular positioning, trafficking, and degradation. This study helps to understand the role of TMEM127 in the development of pheochromocytomas.
Article
Medicine, General & Internal
Lin Zhao, Xiaoran Zhang, Xu Meng, Ting Zhang, Hua Fan, Qiongyu Zhang, Yecheng Liu, Xianliang Zhou, Huadong Zhu
Summary: Pheochromocytomas and paragangliomas (PPGLs) associated with negative catecholamines are not uncommon. Patients with negative catecholamines were more likely to have extra-adrenal tumors, smaller tumor diameters, and lower prevalence rates of diabetes and hypertension compared to patients with positive catecholamines. Tumor recurrence did not significantly differ between the two groups.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Marie F. Smeland, Pascal Brouillard, Trine Prescott, Laurence M. Boon, Bodil Hvingel, Cecilie Nordbakken, Mona Nystad, Oystein L. Holla, Miikka Vikkula
Summary: This study investigated a consanguineous family with recurrent pregnancy loss due to severe early-onset non-immune hydrops fetalis. The researchers found that the fetuses had a homozygous pathogenic variant in the ANGPT2 gene, leading to loss-of-function. This is the first report of an autosomal recessive ANGPT2-related disorder in humans.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Alexander J. Thompson, Yousef M. Alwan, Vijay A. C. Ramani, D. Gareth Evans, Eamonn R. Maher, Emma R. Woodward
Summary: The purpose of this study was to determine the cost-effectiveness of annual renal imaging surveillance (RIS) in hereditary leiomyomatosis and renal cell cancer (HLRCC). The study found that annual contrast-enhanced renal MRI surveillance (CERMRIS) in HLRCC is cost-effective across different age groups.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P. McVeigh, Jackie A. Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M. Eccles, Marc Tischkowitz, Clare Turnbull, Emma Roisin Woodward, Eamonn R. Maher
Summary: SDHA PGV carriers are common in patients with paraganglioma and phaeochromocytoma, and the variant often presents as sporadic tumors in patients without family history. Studies show that the penetrance of SDHA-associated tumors is low, which poses challenges for surveillance and management.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Endocrinology & Metabolism
Minghao Li, Tamara Prodanov, Leah Meuter, Michiel N. Kerstens, Nicole Bechmann, Aleksander Prejbisz, Hanna Remde, Henri J. L. M. Timmers, Svenja Noelting, Sara Talvacchio, Annika M. A. Berends, Stephanie Fliedner, Mercedes Robledo, Jacques W. M. Lenders, Karel Pacak, Graeme Eisenhofer, Christina Pamporaki
Summary: This study found that the prevalence of recurrence in patients with sporadic PPGL is lower than in patients with pathogenic variants, but similar to those with variants that activate kinase pathways. Noradrenergic/dopaminergic phenotype, larger size, and extra-adrenal location of primary tumors were identified as independent predictors of recurrence in sporadic PPGL.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Sara Mellid, Eduardo Gil, Rocio Leton, Eduardo Caleiras, Emiliano Honrado, Susan Richter, Nuria Palacios, Marcos Lahera, Juan C. Galofre, Adria Lopez-Fernandez, Maria Calatayud, Aura D. Herrera-Martinez, Maria A. Galvez, Xavier Matias-Guiu, Milagros Balbin, Esther Korpershoek, Eugenie S. Lim, Francesca Maletta, Sofia Lider, Stephanie M. J. Fliedner, Nicole Bechmann, Graeme Eisenhofer, Letizia Canu, Elena Rapizzi, Irina Bancos, Mercedes Robledo, Alberto Cascon
Summary: In recent years, it has been found that a significant percentage of PPGL patients carry known germline mutations in susceptibility genes. Furthermore, some patients with mutations in the NF1 gene also have co-occurring mutations in other PPGL related genes, which may play a role in tumor development.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Oncology
Anne-Paule Gimenez-Roqueplo, Mercedes Robledo, Patricia L. M. Dahia
Summary: Adrenal and extra-adrenal PGLs are often caused by single pathogenic variants in genes involved in various cellular processes. The discovery of these driver mutations has led to active clinical surveillance and potential targeted therapies. Recent progress in genetics and molecular pathogenesis of PGLs, along with new disease models and ongoing clinical trials, were discussed at the ISP2022 conference.
ENDOCRINE-RELATED CANCER
(2023)
Article
Peripheral Vascular Disease
Gian Paolo Rossi, Domenico Bagordo, Laurence Amar, Michel Azizi, Anna Riester, Martin Reincke, Christoph Degenhart, Jiri Widimsky, Mitsuhide Naruse, Jaap Deinum, Tomaz Kocjan, Aurelio Negro, Ermanno Rossi, Gregory Kline, Akiyo Tanabe, Fumitoshi Satoh, Lars Christian Rump, Oliver Vonend, Holger S. Willenberg, Peter J. Fuller, Jun Yang, Nicholas Yong Nian Chee, Steven B. Magill, Zulfiya Shafigullina, Marcus Quinkler, Anna Oliveras, Bo-Ching Lee, Chin-Chen Chang, Vin-Cent Wu, Zuzana Kratka, Michele Battistel, Giacomo Rossitto, Teresa Maria Seccia
Summary: This study investigates whether selectively unilateral adrenal vein sampling can identify the responsible adrenal gland.
Review
Genetics & Heredity
Fiona Jane Bruinsma, James G. Dowty, Aung Ko Win, Laura C. Goddard, Prachi Agrawal, Domenico Attina', Nabil Bissada, Monica De Luise, Daniel B. Eisen, Mitsuko Furuya, Giuseppe Gasparre, Maurizio Genuardi, Anne-Marie Gerdes, Thomas Van Overeem Hansen, Arjan C. Houweling, Paul Christiaan Johannesma, Andre Lencastre, Derek Lim, Noralane M. Lindor, Valentina Luzzi, Maeve Lynch, Antonella Maffe, Fred H. Menko, Guido Michels, Jose S. Pulido, Ryu H. Jay, Elke C. Sattler, Ortrud K. Steinlein, Sara Tomassetti, Kathy Tucker, Daniela Turchetti, Irma van de Beek, Lore van Riel, Maurice van Steensel, Thierry Zenone, Maurizo Zompatori, Jennifer Walsh, Davide Bondavalli, Eamonn R. Maher, Ingrid M. Winship
Summary: BHD syndrome is a rare genetic syndrome caused by FLCN gene variants, which can increase the risk of various manifestations including fibrofolliculomas, pulmonary cysts, pneumothorax, and renal cell carcinoma. This study provides updated penetrance estimates based on a large dataset, which are crucial for the genetic counseling and clinical management of BHD syndrome.
JOURNAL OF MEDICAL GENETICS
(2023)
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
I. Tizianel, M. Detomas, T. Deutschbein, M. Fassnacht, N. Albiger, M. Iacobone, C. Scaroni, F. Ceccato
Summary: Unilateral adrenalectomy is an effective alternative treatment for PBMAH, achieving surgical cure in three out of four patients. Pre-operative hCRH testing can predict long-term remission rates.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Medicine, General & Internal
Teresa Maria Seccia, Tungalagtamir Shagjaa, Margherita Morpurgo, Brasilina Caroccia, Viola Sanga, Sonia Faoro, Francesca Venturini, Girolama Iadicicco, Sara Lococo, Maria Mazzitelli, Filippo Farnia, Paola Fioretto, Yusuke Kobayashi, Dario Gregori, Gian Paolo Rossi
Summary: Despite WHO no longer considering SARS-CoV-2 a public health emergency, the development of effective treatments for COVID-19 remains crucial. The protease inhibitor nafamostat has shown potential for treating COVID-19 infections by inhibiting virus entry and preventing complications. The RACONA study demonstrated that nafamostat has a good safety profile and could be beneficial for COVID-19 hospitalized patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Letter
Oncology
Sara Mellid, Fernando Garcia, Luis Javier Leandro-Garcia, Alberto Diaz-Talavera, Angel Mario Martinez-Montes, Eduardo Gil, Bruna Calsina, Maria Monteagudo, Rocio Leton, Rocio Leton, Juan Maria Roldan-Romero, Maria Santos, Javier Lanillos, Carlos Valdivia, Natalia Martinez-Puente, Javier de Nicolas-Hernandez, Scherezade Jimenez, Manuel Perez-Martinez, Emiliano Honrado, Javier Coloma, Ana Cerezo, Clara Maria Santiveri, Manel Esteller, Ramon Campos-Olivas, Eduardo Caleiras, Cristina Montero-Conde, Cristina Rodriguez-Antona, Javier Munoz, Mercedes Robledo, Alberto Cascon
CANCER COMMUNICATIONS
(2023)
Article
Oncology
Filippo Crimi, Elena Agostini, Alessandro Toniolo, Francesca Torresan, Maurizio Iacobone, Irene Tizianel, Carla Scaroni, Emilio Quaia, Cristina Campi, Filippo Ceccato
Summary: Radiomics is a promising research field that combines big data analysis from tissue texture analysis with clinical questions. We studied the application of CT texture analysis in adrenal pheochromocytomas to define the correlation between the extracted features and the secretory pattern, histopathological data, and natural history of the disease.
Review
Surgery
Donatella Schiavone, Mattia Ballo, Marco Filardo, Silvia Dughiero, Francesca Torresan, Gian Paolo Rossi, Maurizio Iacobone
Summary: Subtotal adrenalectomy leads to less post-surgical primary adrenal insufficiency, but has a higher postoperative recurrence rate.