Article
Endocrinology & Metabolism
Carolyn Horton, Holly LaDuca, Ashley Deckman, Kate Durda, Michelle Jackson, Marcy E. Richardson, Yuan Tian, Amal Yussuf, Kory Jasperson, Tobias Else
Summary: This study examined the results of multigene panel testing (MGPT) for hereditary pheochromocytomas and paragangliomas (PPGLs) in a diverse cohort. The findings showed a high diagnostic yield, low inconclusive result rate, and significant contribution from rare genes. These results support universal genetic testing for all individuals with PPGL and the use of MGPT as the preferred testing platform.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Medicine, General & Internal
Malgorzata Litwiniuk-Kosmala, Maria Makuszewska, Malgorzata Czesak
Summary: Tumors of the head and neck region consist of various benign lesions and malignant neoplasms. Endoglin, also known as CD105, plays a role in regulating angiogenesis and is considered as a marker of tumor-related angiogenesis. This review focuses on the role of endoglin as a possible marker of carcinogenesis and its potential as a target for antibody-based therapies in head and neck neoplasms.
FRONTIERS IN MEDICINE
(2023)
Review
Endocrinology & Metabolism
Shin Kawanabe, Takuyuki Katabami, Ryuichi Oshima, Nobuyuki Yanagisawa, Masakatsu Sone, Noriko Kimura
Summary: This article reports a case of multiple catecholamines-producing PGLs in the middle ear, retroperitoneum, and duodenum, and reviews the literature on duodenal PGLs. The patient's hypertension symptoms were relieved after surgical resection, and no recurrence or metastasis was found at 1 year after the operation.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Medicine, General & Internal
Piero Giuseppe Meliante, Federica Zoccali, Marco de Vincentiis, Massimo Ralli, Carla Petrella, Marco Fiore, Antonio Minni, Christian Barbato
Summary: Programmed cell death ligand-1 (PD-L1) binds PD-1 on CD8+ lymphocytes, inhibiting their cytotoxic action. Its aberrant expression by head and neck squamous cell carcinoma (HNSCC) cells leads to immune escape. Pembrolizumab and nivolumab, two humanized monoclonal antibodies against PD-1, have been approved in HNSCC treatment, but similar to 60% of patients with recurrent or metastatic HNSCC fail to respond to immunotherapy and only 20 to 30% of treated patients have long-term benefits.
Article
Oncology
Alessa Fischer, Umberto Maccio, Katharina Wang, Juliane Friemel, Martina A. Broglie Daeppen, Diana Vetter, Kuno Lehmann, Astrid Reul, Mercedes Robledo, Constanze Hantel, Nicole Bechmann, Karel Pacak, Kathrin Zitzmann, Christoph J. Auernhammer, Ashley B. Grossman, Felix Beuschlein, Svenja Noelting
Summary: In pheochromocytomas and paragangliomas, hypoxia upregulates the expression of PD-L1 and HIF-2 alpha, promoting tumor progression and immune microenvironment alterations. Head and neck paragangliomas undergoing embolization show significantly higher expression levels of PD-L1 and HIF-2 alpha, suggesting that targeted treatment using HIF-2 alpha and checkpoint inhibitors may be beneficial.
Article
Biochemistry & Molecular Biology
James Whitworth, Ruth T. Casey, Philip S. Smith, Olivier Giger, Jose Ezequiel Martin, Graeme Clark, Jaqueline Cook, Marlee S. Fernando, Phillipe Taniere, Eamonn R. Maher
Summary: This study reports a rare case of a mother-son diad with wild-type GIST, both found to have germline truncating variants in SDHA and PALB2 through comprehensive genetic testing. The mother also developed breast ductal carcinoma in-situ, with immunohistochemistry and molecular analysis showing loss of SDHB expression in the wtGISTs. The presence of multilocus inherited neoplasia alleles syndrome (MINAS) in this family may have contributed to the highly unusual occurrence of familial wtGIST.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Otorhinolaryngology
Katherine M. Miller, Firas Sbeih, Kevin Contrera, Chandana A. Reddy, Jessica Marquard, Charis Eng, Robert R. Lorenz
Summary: This study aimed to determine the hazard of developing a second primary, metastatic, or recurrent paraganglioma in SDHx patients with or without P81L mutation. The study found that patients with SDHD P81L mutation were less likely to develop second primary paraganglioma in other parts of the body. Further research is needed to determine if head and neck paraganglioma patients with P81L qualify for less intensive imaging surveillance to screen for second primary paragangliomas outside the head and neck.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Yang Lu
Summary: This case illustrates the heterogeneous features of carotid body paragangliomas, with the right-sided tumor avid on both I-123-MIBG and Ga-68-DOTATATE PET/CT images, while the left-sided tumor only avid on Ga-68-DOTATATE PET/CT but not I-123-MIBG scan.
CLINICAL NUCLEAR MEDICINE
(2022)
Article
Endocrinology & Metabolism
Maria Savvateeva, Anna Kudryavtseva, Elena Lukyanova, Anastasiya Kobelyatskaya, Vladislav Pavlov, Maria Fedorova, Elena Pudova, Zulfiya Guvatova, Dmitry Kalinin, Alexander Golovyuk, Elizaveta Bulavkina, Irina Katunina, George Krasnov, Anastasiya Snezhkina
Summary: This study analyzed somatic mutation profiles in HNPGLs and found that most patients had germline and somatic variants in paraganglioma susceptibility genes or related genes. The study also identified six significantly mutated genes and four mutational signatures associated with HNPGLs. These findings provide important insights into the molecular mechanisms involved in the development of HNPGLs.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Clinical Neurology
John P. Leonetti
Summary: This paper outlines the clinical neurologic presentation and diagnostic evaluation of patients with paragangliomas of the head and neck, and summarizes contemporary management options. Recent research focuses on traditional and robotic image-guided radiosurgery. Paragangliomas are rare, slow-growing tumors of the head and neck that typically present with silent cranial nerve deficits or mild speech and swallowing symptoms. Radiologic surveillance is the optimal treatment choice, but subtotal resection with case-specific radiosurgery is commonly used for large tumors.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
(2022)
Article
Medicine, General & Internal
Alba Bello Castro, Juan Seoane, Maximo Francisco Fraga Rodriguez, Francisco Gude Sampedro, Javier Seoane Romero, Benjamin Martin-Biedma, Pablo Castelo-Baz
Summary: The aim of this study is to measure the diagnostic interval of primary extranodal non-Hodgkin lymphomas affecting the head and neck and to discover any associated factors. The study found that comorbidities, symptoms of dysphagia, high proliferative activity tumors, and advanced stages of the disease were all associated with shorter diagnostic intervals. Raising awareness about these tumors and their presenting symptoms can lead to earlier diagnoses and better outcomes.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Multidisciplinary Sciences
Danielle L. Swaney, Dana J. Ramms, Zhiyong Wang, Jisoo Park, Yusuke Goto, Margaret Soucheray, Neil Bhola, Kyumin Kim, Fan Zheng, Yan Zeng, Michael McGregor, Kari A. Herrington, Rachel O'Keefe, Nan Jin, Nathan K. VanLandingham, Helene Foussard, John Von Dollen, Mehdi Bouhaddou, David Jimenez-Morales, Kirsten Obernier, Jason F. Kreisberg, Minkyu Kim, Daniel E. Johnson, Natalia Jura, Jennifer R. Grandis, J. Silvio Gutkind, Trey Ideker, Nevan J. Krogan
Summary: A framework utilizing multidimensional protein-protein interaction maps is applied to study head and neck squamous cell carcinoma, revealing various interactions including cancer-enriched and mutation-enriched interactions. These findings shed light on the mechanisms of cancer cell migration and provide insights into the response to HER3 inhibition.
Review
Endocrinology & Metabolism
Lyndsey Sandow, Rajat Thawani, Myung Sun Kim, Michael C. Heinrich
Summary: This article reviews the epidemiology, presentation, diagnosis, and management of head and neck paragangliomas. The majority of head and neck paragangliomas are benign, but a small percentage can metastasize and significantly impact patient survival. Diagnosis and management methods include biochemical testing, imaging modalities, and surgical intervention. Prognosis of head and neck paragangliomas varies depending on the pathology, location, and aggressiveness of the tumor.
ENDOCRINE PRACTICE
(2023)
Review
Biochemistry & Molecular Biology
Tsung-Jang Yeh, Chi-Wen Luo, Jeng-Shiun Du, Chien-Tzu Huang, Min-Hung Wang, Tzer-Ming Chuang, Yuh-Ching Gau, Shih-Feng Cho, Yi-Chang Liu, Hui-Hua Hsiao, Li-Tzong Chen, Mei-Ren Pan, Hui-Ching Wang, Sin-Hua Moi
Summary: Head and neck cancers (HNCs) are a major global malignancy. Telomerase reactivation through TERT promoter mutations has been linked to carcinogenesis. These mutations have high frequencies in HNCs and are associated with poor survival. Therapies targeting telomerase have been developed, but few have reached clinical trials. This review summarizes the current understanding and evidence of TERT promoter mutations in HNC patients.
Article
Oncology
Yue Chen, Zhi-Yong Li, Guan-Qun Zhou, Ying Sun
Summary: IRGPI is a promising biomarker for distinguishing prognosis, molecular and immune characteristics, and immune benefit from ICI therapy in HNSCC. Different IRGPI scores are associated with different molecular and immune characteristics, which affect patients' response to ICI therapy.
CLINICAL CANCER RESEARCH
(2021)
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
Otorhinolaryngology
Thea Charlott Reuter, Valentina Korell, Jens Pfeiffer, Gerd Juergen Ridder, Manuel Christoph Ketterer, Christoph Becker
Summary: This retrospective study aimed to analyze the progression of DNM, evaluate the impact of comorbidities on complications and mortality, and observe the long-term consequences of DNM on dysphagia and quality of life.
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
(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)
Review
Endocrinology & Metabolism
Alberto Cascon, Bruna Calsina, Maria Monteagudo, Sara Mellid, Alberto Diaz-Talavera, Maria Curras-Freixes, Mercedes Robledo
Summary: The genetics of pheochromocytoma and paraganglioma (PPGL) has become increasingly complex over the last two decades, with more than 20 driver genes implicated in the disease. However, a significant percentage of patients still lack a genetic diagnosis. Mutations in known PPGL genes deregulate three main signaling pathways, providing potential targets for personalized treatment. Integrating results from genomic platforms allows for the discovery of regulatory mechanisms and the potential for precision medicine in metastatic PPGL patients.
JOURNAL OF MOLECULAR ENDOCRINOLOGY
(2023)
Article
Chemistry, Physical
Peter Schwerdtfeger
Summary: This study investigates the dependence of nuclear quadrupole coupling constants CNQC(alpha) on the fine-structure constant alpha for various diatomic gold molecules AuX (X = H, F, Cl, Br, and I) at the density functional level of theory. The results show that the electric field gradient at gold is sensitive to the density functional applied, but the derivative with respect to alpha is less sensitive. The study also estimates the upper limit for the alpha variation in time, dCNQC/dt, at 10-9 Hz/year, which exceeds the limit of high-precision spectroscopy.
JOURNAL OF PHYSICAL CHEMISTRY A
(2023)
Editorial Material
Oncology
Lamis Yehia, Maria Laura Centomo, Pier Paolo Pandol, Charis Eng
JOURNAL OF THORACIC ONCOLOGY
(2023)
Article
Multidisciplinary Sciences
Bruna Calsina, Elena Pineiro-Yanez, Angel M. Martinez-Montes, Eduardo Caleiras, Angel Fernandez-Sanroman, Maria Monteagudo, Rafael Torres-Perez, Coral Fustero-Torre, Marta Pulgarin-Alfaro, Eduardo Gil, Rocio Leton, Scherezade Jimenez, Santiago Garcia-Martin, Maria Carmen Martin, Juan Maria Roldan-Romero, Javier Lanillos, Sara Mellid, Maria Santos, Alberto Diaz-Talavera, Angeles Rubio, Patricia Gonzalez, Barbara Hernando, Nicole Bechmann, Margo Dona, Maria Calatayud, Sonsoles Guadalix, Cristina Alvarez-Escola, Rita M. Regojo, Javier Aller, Maria Isabel Del Olmo-Garcia, Adria Lopez-Fernandez, Stephanie M. J. Fliedner, Elena Rapizzi, Martin Fassnacht, Felix Beuschlein, Marcus Quinkler, Rodrigo A. Toledo, Massimo Mannelli, Henri J. Timmers, Graeme Eisenhofer, Sandra Rodriguez-Perales, Orlando Dominguez, Geoffrey Macintyre, Maria Curras-Freixes, Cristina Rodriguez-Antona, Alberto Cascon, Luis J. Leandro-Garcia, Cristina Montero-Conde, Giovanna Roncador, Juan Fernando Garcia-Garcia, Karel Pacak, Fatima Al-Shahrour, Mercedes Robledo
Summary: The mechanisms of metastasis in pheochromocytoma/paraganglioma (mPPGL) are unknown. Genomic and immunogenomic profiling of mPPGL tumors reveal potential biomarkers for risk of metastasis and immunotherapy response.
NATURE COMMUNICATIONS
(2023)
Article
Oncology
Simone De Fabritiis, Silvia Valentinuzzi, Gianluca Piras, Ilaria Cicalini, Damiana Pieragostino, Sara Pagotto, Silvia Perconti, Mirco Zucchelli, Alberto Schena, Elisa Taschin, Gloria Simona Bertesteanu, Diana Liberata Esposito, Antonio Stigliano, Vincenzo De Laurenzi, Francesca Schiavi, Mario Sanna, Piero Del Boccio, Fabio Verginelli, Renato Mariani-Costantini
Summary: Head and neck paragangliomas (HNPGLs) are rare chemoresistant tumors curable only with surgery and are strongly influenced by genetic predisposition. Patients and relatives require lifetime follow-up with MRI and/or PET-CT, resulting in exposure to electromagnetic/ionizing radiation, costs, and organizational challenges.
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, 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
Chemistry, Multidisciplinary
Andres Robles-Navarro, Paul Jerabek, Peter Schwerdtfeger
Summary: This study investigates the differences in crystalline structures between Group 1 and Group 11 elements using relativistic density functional theory. The results show that many-body effects, vibrational contributions, and dispersion interactions play a crucial role in explaining these differences.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION
(2023)
Article
Clinical Neurology
Olivier Zanier, Matteo Zoli, Victor E. Staartjes, Mohammed O. Alalfi, Federica Guaraldi, Sofia Asioli, Arianna Rustici, Ernesto Pasquini, Marco Faustini-Fustini, Zoran Erlic, Michael Hugelshofer, Stefanos Voglis, Luca Regli, Diego Mazzatenta, Carlo Serra
Summary: This study developed machine learning models to predict the success rate of gross total resection (GTR), biochemical remission (BR), and improvement of disrupted hypothalamus pituitary axis (IMP) in pituitary adenoma resection surgery using preoperatively available data. The models showed adequate generalizability in both training and external validation, suggesting the potential of machine learning in personalized surgical therapy.