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
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
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)
Article
Oncology
Xiaoying Tang, Xiao Fu, Yang Liu, Di Yu, Sabrina J. Cai, Chunzhang Yang
MOLECULAR CANCER THERAPEUTICS
(2020)
Article
Oncology
Yang Liu, Ying Pang, Veronika Caisova, Jianyi Ding, Di Yu, Yiqiang Zhou, Thanh-Truc Huynh, Hans Ghayee, Karel Pacak, Chunzhang Yang
Article
Cell Biology
Jiong Yu, Xiaowei Shi, Chunzhang Yang, Petra Bullova, Christopher S. Hong, Cody L. Nesvick, Pauline Dmitriev, Karel Pacak, Zhengping Zhuang, Hongcui Cao, Lanjuan Li
Article
Multidisciplinary Sciences
Di Yu, Yang Liu, Yiqiang Zhou, Victor Ruiz-Rodado, Mioara Larion, Guowang Xu, Chunzhang Yang
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Review
Endocrinology & Metabolism
Stephanie M. J. Fliedner, Philipp E. R. Winkelmann, Robert Wesley, Reinhard Vonthein, Hendrik Lehnert
Summary: This study analyzed individual patient data of 364 cases of ganglioneuromas, showing that a majority were diagnosed in adults, more commonly in females. The most common location for ganglioneuromas was abdomen/pelvis, with decreasing complication rates in older patients. Age-related differences in tumor location and hormone production suggest tailored management strategies may be needed.
CLINICAL ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Adriana Gibadulinova, Petra Bullova, Hynek Strnad, Kamil Pohlodek, Dana Jurkovicova, Martina Takacova, Silvia Pastorekova, Eliska Svastova
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Review
Biochemistry & Molecular Biology
Yang Liu, Fengchao Lang, Fu-Ju Chou, Kareem A. Zaghloul, Chunzhang Yang
Article
Biochemistry & Molecular Biology
Yao Shi, Juan Yuan, Vilma Rraklli, Eva Maxymovitz, Miriam Cipullo, Mingzhi Liu, Shuijie Li, Isabelle Westerlund, Oscar C. Bedoya-Reina, Petra Bullova, Joanna Rorbach, C. Christofer Juhlin, Adam Stenman, Catharina Larsson, Per Kogner, Maureen J. O'Sullivan, Susanne Schlisio, Johan Holmberg
Summary: The study investigated the role of aberrant splicing and splicing-dependent RNA-fusion transcripts in neuroblastoma, showing that elevated expression of splicing factors is a strong predictor of poor clinical outcome. Additionally, analysis of over 900 identified fusion transcripts revealed their potential to generate altered gene products. Furthermore, inhibition of the spliceosome in neuroblastoma inhibited fusion expression, induced apoptosis, and inhibited tumor growth, indicating the spliceosome as a potential target for clinical intervention.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Oncology
Yang Liu, Chunzhang Yang
Summary: Oncometabolites are characteristic hallmarks of various human cancers, generated from disrupted Krebs cycle and impacting the activity of certain enzymes. They signify different cancer-related patterns and understanding the relationship between cancer and oncometabolites could lead to novel therapeutic approaches for improved cancer treatment.
Article
Multidisciplinary Sciences
O. C. Bedoya-Reina, W. Li, M. Arceo, M. Plescher, P. Bullova, H. Pui, M. Kaucka, P. Kharchenko, T. Martinsson, J. Holmberg, I Adameyko, Q. Deng, C. Larsson, C. C. Juhlin, P. Kogner, S. Schlisio
Summary: The study shows that childhood neuroblastoma can be separated into high and low risk groups with different cell identities and malignancy potential, indicating two distinct disease entities. Low-risk neuroblastoma resembles sympatho- and chromaffin cells in terms of transcriptome, while the malignant cells in high-risk neuroblastoma resemble a subtype of cholinergic progenitor population in human post-natal gland. The findings reveal different gene expression programs for worst and better survival in correlation with age at diagnosis, reflecting clinical heterogeneity and outcome of neuroblastoma tumors.
NATURE COMMUNICATIONS
(2021)
Article
Oncology
Katerina Hadrava Vanova, Chunzhang Yang, Leah Meuter, Jiri Neuzil, Karel Pacak
Summary: Pheochromocytoma (PHEO) and paraganglioma (PGL) are rare neuroendocrine tumors derived from neural crest cells, with a subset of patients at risk for metastatic disease, especially those with succinate dehydrogenase subunit B mutations. These tumors exhibit redox imbalance, suggesting therapeutic strategies targeting reactive oxygen species production may be promising.
Review
Cell Biology
Fu-Ju Chou, Yang Liu, Fengchao Lang, Chunzhang Yang
Summary: Mutations in the Isocitrate dehydrogenase (IDH) gene lead to accumulation of D-2-hydroxyglutarate (D-2-HG), impacting DNA/histone methylation, hypoxia signaling, DNA repair, and redox homeostasis. These effects ultimately influence the carcinogenesis of IDH-mutated cancers.
Review
Biochemistry & Molecular Biology
Yang Zhang, Yang Liu, Fengchao Lang, Chunzhang Yang
Summary: Cancer stem cells (CSCs) have a close relationship with oncogenesis, disease progression, therapeutic resistance, and overall outcome. Mutations in isocitrate dehydrogenase (IDH) are closely related to the establishment and maintenance of CSCs, leading to distinctive molecular signatures. IDH mutation and IDH-related pathways could be valuable molecular targets to improve the disease outcome.
ESSAYS IN BIOCHEMISTRY
(2022)
Correction
Endocrinology & Metabolism
Shuijie Li, Wenyu Li, Juan Yuan, Petra Bullova, Jieyu Wu, Xuepei Zhang, Yong Liu, Monika Plescher, Javier Rodriguez, Oscar C. Bedoya-Reina, Paulo R. Jannig, Paula Valente-Silva, Meng Yu, Marie Arsenian Henriksson, Roman A. Zubarev, Anna Smed-Sorensen, Carolyn K. Suzuki, Jorge L. Ruas, Johan Holmberg, Catharina Larsson, C. Christofer Juhlin, Alex von Kriegsheim, Yihai Cao, Susanne Schlisio
Article
Endocrinology & Metabolism
Shuijie Li, Wenyu Li, Juan Yuan, Petra Bullova, Jieyu Wu, Xuepei Zhang, Yong Liu, Monika Plescher, Javier Rodriguez, Oscar C. Bedoya-Reina, Paulo R. Jannig, Paula Valente-Silva, Meng Yu, Marie Arsenian Henriksson, Roman A. Zubarev, Anna Smed-Sorensen, Carolyn K. Suzuki, Jorge L. Ruas, Johan Holmberg, Catharina Larsson, C. Christofer Juhlin, Alex von Kriegsheim, Yihai Cao, Susanne Schlisio
Summary: This study reveals the oxygen-sensitive regulation of TFAM, an activator of mitochondrial transcription and replication, and its connection to tumorigenesis in von Hippel-Lindau syndrome. The findings suggest that impaired mitochondrial biogenesis is linked to VHL tumorigenesis, and targeting mitochondria could sensitize therapy-resistant VHL tumors.