Article
Endocrinology & Metabolism
Wolfgang Saeger, Jannik von Schoening, Joerg Flitsch, Guenther Jautzke, Markus Bergmann, Christian Hagel, Ulrich J. Knappe
Summary: Between 1996 and 2020, the German Registry of Pituitary Tumors enrolled 12,565 cases, with PitNETs and spindle cell tumors of the neurohypophysis being the main types. Some cases were found to have co-existing PitNETs and posterior lobe tumors.
ENDOCRINE PATHOLOGY
(2021)
Article
Clinical Neurology
Simone Schmid, David A. Solomon, Eilis Perez, Anne Thieme, Bette K. Kleinschmidt-DeMasters, Caterina Giannini, Annekathrin Reinhardt, Sylvia L. Asa, Ozgur Mete, Damian Stichel, Christin Siewert, Carsten Dittmayer, Martin Hasselblatt, Werner Paulus, Christoph Nagel, Patrick N. Harter, Jens Schittenhelm, Juergen Honegger, Elisabeth Rushing, Roland Coras, Stefan M. Pfister, Rolf Buslei, Arend Koch, Arie Perry, David T. W. Jones, Andreas von Deimling, David Capper, M. Beatriz Lopes
Summary: Pituicytoma, granular cell tumor, and spindle cell oncocytoma are rare tumors of the posterior pituitary. Molecular analysis revealed subtle DNA methylation differences but distinct mutation patterns and clinical outcomes, suggesting a combined histo-molecular subclassification into three subtypes based on histology, genetic alterations, and favorable outcomes. The study highlights the potential for targeted therapies based on recurrent genetic alterations in these tumors.
ACTA NEUROPATHOLOGICA
(2021)
Article
Clinical Neurology
Amine Trifa, Steven Knafo, Ahmed Maatoug, Matei Militaru, Razvan Copaciu, Nozar Aghakhani, Fabrice Parker
Summary: Pituicytomas are rare tumors that pose surgical challenges due to their hypervascularity. This retrospective study describes the clinical and radiological features of four patients with Pituicytomas and proposes an optimal therapeutic approach.
ACTA NEUROLOGICA BELGICA
(2023)
Article
Clinical Neurology
Valeria Barresi, Michele Simbolo, Marco Gessi, Sabrina Rossi, Maria Caffo, Albino Eccher, Filippo Flavio Angileri, Salvatore Cannavo, Matteo Brunelli, Aldo Scarpa
Summary: Posterior pituitary tumors, including spindle cell oncocytomas (SCOs), pituicytomas, and granular cell tumors, exhibit differences in clinical-pathological, immunohistochemical, and genetic features. Common genetic alterations may be shared among these tumors, suggesting the possibility of including SMARCA4/SMARCB1-deficiency in the differential diagnosis.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Kyla Wright, Kristyn Galbraith, Matija Snuderl, Nidhi Agrawal
Summary: Histological diagnosis of sellar masses can be challenging, especially in rare cases without definitive biomarkers. DNA methylation profiling has emerged as a useful tool in assisting diagnosis, particularly in cases of atypical presentation or diagnostic uncertainty. This case illustrates the clinical utility of machine-learning-based DNA methylation classifiers in improving diagnostic accuracy and guiding therapeutic and prognostic decisions for CNS tumors.
Article
Clinical Neurology
Stephen Garrett Whipple, Amey R. Savardekar, Shilpa Rao, Anita Mahadevan, Bharat Guthikonda, Jennifer A. Kosty
Summary: Primary posterior pituitary tumors are a rare entity that includes pituicytomas and granular cell tumors. Research on these tumors has focused on epidemiology, clinical presentation, histologic features, and operative characteristics. Further understanding of PPTs is needed, and establishing a multicenter registry would benefit knowledge in this area.
WORLD NEUROSURGERY
(2021)
Review
Oncology
Agata Mormul, Emilia Wloszek, Julia Nowoszewska, Marta Fudalej, Michal Budzik, Anna Badowska-Kozakiewicz, Andrzej Deptala
Summary: Pancreatic ductal adenocarcinoma is the most common pancreatic tumor, accounting for 85% of cases. The remaining 15% consists of various rare neoplasms. This study gathered the latest data on the epidemiology, diagnosis, biomarkers, and management of six rare pancreatic tumors to provide important insights for their proper classification and treatment.
Article
Medicine, General & Internal
Xuewen Wang, Yanbin Wu, Xuefeng Cao, Xingyuan Zhang, Yu Cheng, Lingqun Kong
Summary: Duodenal neuroendocrine tumors (d-NET) are rare tumors with clinical manifestations similar to other digestive tract tumors. Surgery is the only radical treatment method, with the preferred approach being active radical resection of the tumor.
Article
Clinical Neurology
Hirotaka Hasegawa, Jamie J. Van Gompel, Soliman H. Oushy, Bruce E. Pollock, Michael J. Link, Fredric B. Meyer, Irina Bancos, Dana Erickson, Caroline J. Davidge-Pitts, Jason T. Little, Joon H. Uhm, Amy A. Swanson, Caterina Giannini, Anita Mahajan, John L. Atkinson
Summary: This study reviewed 85 cases of SCO and found that patients had an average age of 56 years, 60% had vision loss, and 73% showed hormonal abnormalities. The tumor was avidly enhancing on MRI images, and GTR had a higher tumor control rate postoperatively, while patients with low Ki67 index had better prognosis.
WORLD NEUROSURGERY
(2021)
Review
Clinical Neurology
Wenya Linda Bi, Sandro Santagata
Summary: Tumors that occur in and around the skull base are diverse, and recent studies have improved our understanding of their pathogenesis and influenced clinical practice. Understanding the pathology, natural history, and molecular features of skull base tumors is crucial for providing optimal patient care.
Review
Clinical Neurology
Wenya Linda Bi, Sandro Santagata
Summary: Skull base tumors comprise a wide range of entities, with recent studies advancing understanding of their pathogenesis. Genotype plays a significant role in the phenotype of meningiomas, while Schwannomas are characterized by alterations in NF2 gene.
Article
Oncology
Shunxing Teh, Fam Xeng Inn, Iqbal Hussain Rizuana, Wan Muhaizan Wm
Summary: This article presents a case of rare and highly aggressive small cell prostate neuroendocrine carcinoma. The case describes the patient's clinical presentation, imaging findings, and treatment plan. Consensus on the management of this disease is still lacking.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Junichi Tsunokake, Fumiyoshi Fujishima, Hirofumi Watanabe, Ikuro Sato, Koh Miura, Kazuhiro Sakamoto, Hiroyoshi Suzuki, Takashi Sawai, Yuko Itakura, Tatsuya Hoshi, Atsushi Kunimitsu, Takuro Yamauchi, Ryujiro Akaishi, Yohei Ozawa, Toshiaki Fukutomi, Hiroshi Okamoto, Chiaki Sato, Yusuke Taniyama, Takashi Kamei, Hironobu Sasano
Summary: The neuroendocrine and non-neuroendocrine tumors have differences in the tumor microenvironment, such as factors related to neoangiogenesis and tumor immune reactions. Understanding the effects of neuroendocrine differentiation on the tumor microenvironment is important.
Article
Oncology
Sarah M. Pearsall, Stuart C. Williamson, Sam Humphrey, Ellyn Hughes, Derrick Morgan, Fernando J. Garcia Marques, Griselda Awanis, Rebecca Carroll, Laura Burks, Yan Ting Shue, Abel Bermudez, Kristopher K. Frese, Melanie Galvin, Mathew Carter, Lynsey Priest, Alastair Kerr, Cong Zhou, Trudy G. Oliver, Jonathan D. Humphries, Martin J. Humphries, Fiona Blackhall, Ian G. Cannell, Sharon J. Pitteri, Gregory J. Hannon, Julien Sage, Caroline Dive, Kathryn L. Simpson
Summary: This study investigates the phenotype and molecular mechanisms of vasculogenic mimicry (VM) in small cell lung cancer (SCLC) using circulating tumor cell-derived explant (CDX) models and genetically engineered mouse models (GEMMs). The results show that VM vessels are present in CDX models, GEMMs, and SCLC patient biopsies, and perfused VM vessels support tumor growth. Only NOTCH-active non-NE cells are VM-competent and exhibit characteristics related to blood vessel development and extracellular matrix organization. On Matrigel, VM-primed non-NE cells remodel the extracellular matrix into hollow tubules through an integrin b1-dependent process.
JOURNAL OF THORACIC ONCOLOGY
(2023)
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Shubham Anil Kale, Archi Agrawal, Santosh Menon, Amit Joshi, Vedang Murthy, Ganesh Bakshi, Gagan Prakash, Nilendu Purandare, Sneha Shah, Ameya Puranik, Venkatesh Rangarajan
Summary: Spindle cell sarcoma is a rare connective tissue tumor that rarely occurs in the penis. This case report describes a 27-year-old male diagnosed with spindle cell sarcoma originating from the penis, and the use of FDG PET/CT for diagnosis.
CLINICAL NUCLEAR MEDICINE
(2022)
Article
Clinical Neurology
Mohammed H. Ahmed, Isaias Hernandez-Verdin, Franck Bielle, Maite Verreault, Julie Lerond, Agusti Alentorn, Marc Sanson, Ahmed Idbaih
Summary: CD80 and CD86 are heterogeneously expressed in the tumor microenvironment of glioblastomas. Elevated mRNA expression of both CD80 and CD86 is associated with shorter progression free survival. CD86 may serve as a potential biomarker for prognosis in GBM patients treated with immunotherapy.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2023)
Article
Oncology
Arnaud Beddok, Nathaniel Scher, Claire Alapetite, Bertrand Baussart, Ghita Bentahila, Franck Bielle, Stephanie Bolle, Remi Dendale, Sylvain Dureau, Farid Goudjl, Sylvie Helfre, Hamid Mammar, Lucia Nichelli, Valentin Calugaru, Loic Feuvret
Summary: This study retrospectively analyzed the outcomes of adults with craniopharyngioma treated with proton therapy. The results showed that proton therapy had favorable survival outcomes with acceptable late toxicity. Patients with large tumors and those requiring treatment adaptation had a higher risk of recurrence and adverse effects.
Article
Clinical Neurology
Anna Luisa Di Stefano, Lucia Nichelli, Giulia Berzero, Romain Valabregue, Mehdi Touat, Laurent Capelle, Clement Pontoizeau, Franck Bielle, Julie Lerond, Marine Giry, Chiara Villa, Bertrand Baussart, Caroline Dehais, Damien Galanaud, Capucine Baldini, Julien Savatovsky, Frederic Dhermain, Dinesh K. Deelchand, Chris Ottolenghi, Stephane Lehericy, Malgorzata Marjanska, Francesca Branzoli, Marc Sanson
Summary: In this study, the levels of D-2-hydroxyglutarate (2HG) in glioma patients were detected and quantified using MEGA-PRESS technique. The study investigated the clinical, radiologic, and molecular parameters affecting the levels of 2HG. The results showed that the sensitivity of 2HG detection depends on tumor volume, voxel coverage, and tumor presentation, and the decrease in 2HG levels after IDH inhibition does not predict tumor response.
Review
Oncology
Johan M. Kros, Elisabeth Rushing, Aime L. Uwimana, Aurelio Hernandez-Lain, Alex Michotte, Maysa Al-Hussaini, Franck Bielle, Christian Mawrin, Gianluca Marucci, C. Mircea S. Tesileanu, Roger Stupp, Brigitta Baumert, Martin van den Bent, Pim J. French, Thierry Gorlia
Summary: The histologic parameters, especially the mitotic count, provide additional prognostic value in IDH mutant astrocytomas. The mitotic count significantly affects the PFS and marginally the OS. Furthermore, the mitotic count also affects the PFS of tumors with CDKN2A/B homozygous deletion.
Article
Clinical Neurology
Matthieu Peyre, Suzanne Tran, Beatrice Parfait, Isabelle Bernat, Franck Bielle, Michel Kalamarides
Summary: Neurofibromatosis type 2 (NF2) is a rare genetic disorder characterized by central nervous system lesions, but it can also lead to peripheral nerve pathology causing pain and sensory loss. This study investigated the tumor burden of peripheral nerve pathology in NF2 patients and found that surgery is a safe and effective method for treating peripheral nerve schwannomas-associated pain in NF2, except for rare multinodular tumors.
Article
Multidisciplinary Sciences
Rana Salam, Alexa Saliou, Franck Bielle, Mathilde Bertrand, Christophe Antoniewski, Catherine Carpentier, Agusti Alentorn, Laurent Capelle, Marc Sanson, Emmanuelle Huillard, Lea Bellenger, Justine Guegan, Isabelle Le Roux
Summary: NRF2 regulates senescence in malignant cells and contributes to glioblastoma progression. Removal of p16(Ink4a)-expressing malignant senescent cells improves the tumor environment and survival of GBM-bearing mice. NRF2 transcription factor plays a key role in determining the senescent phenotype, and senolytic drug therapy may be beneficial for GBM patients.
NATURE COMMUNICATIONS
(2023)
Article
Oncology
Aram Ko, Mohammad Hasanain, Young Taek Oh, Fulvio D'Angelo, Danika Sommer, Brulinda Frangaj, Suzanne Tran, Franck Bielle, Bianca Pollo, Rosina Paterra, Karima Mokhtari, Rajesh Kumar Soni, Matthieu Peyre, Marica Eoli, Laura Papi, Michel Kalamarides, Marc Sanson, Antonio Iavarone, Anna Lasorella
Summary: LZTR1 is a substrate-specific adaptor of a CUL3-dependent ubiquitin ligase frequently mutated in cancer. The study identified EGFR and AXL as LZTR1 substrates targeted for degradation, and found that LZTR1 mutations result in the accumulation and deregulated signaling of EGFR and AXL. The study also revealed vulnerabilities of LZTR1-mutant tumors to inhibition of EGFR and AXL, providing precision targeting for patients with LZTR1-mutant cancer.
Article
Oncology
Simona Migliozzi, Young Taek Oh, Mohammad Hasanain, Luciano Garofano, Fulvio D'Angelo, Ryan D. Najac, Alberto Picca, Franck Bielle, Anna Luisa Di Stefano, Julie Lerond, Jann N. Sarkaria, Michele Ceccarelli, Marc Sanson, Anna Lasorella, Antonio Iavarone
Summary: Proteogenomic characterization of human tumors has identified master kinases that play key roles in functional subtypes of glioblastoma. These master kinases have potential as subtype-specific therapeutic targets and can be used to inform patient selection in clinical trials. The researchers have also developed a classification tool that evaluates therapeutic response and subtype association in glioblastoma.
Article
Biotechnology & Applied Microbiology
Pierre-Cyril Comes, Tuan Le Van, Suzanne Tran, Solene Huard, Samiya Abi-Jaoude, Quitterie Venot, Pauline Marijon, Julien Boetto, Antoine Blouin, Franck Bielle, Yohan Ducos, Yu Teranishi, Michel Kalamarides, Matthieu Peyre
Summary: Despite their rarity, PIK3CA mutations in meningiomas have raised interest as potentially targetable, ubiquitous mutations owing to their presence in sporadic benign and malignant tumors but also in hormone-related cases. The researchers used genetically engineered mouse models to demonstrate that Pik3ca mutations in postnatal meningeal cells are sufficient to promote meningioma formation but also tumor progression in mice. They also found that hormone impregnation fails to induce meningioma tumorigenesis while promoting breast tumor formation.
CANCER GENE THERAPY
(2023)
Article
Biochemistry & Molecular Biology
Roseline Vibert, Jasmine Hasnaoui, Alexandre Perrier, Alexandra Lefebvre, Chrystelle Colas, Marion Dhooge, Noemie Basset, Albain Chansavang, Camille Desseignes, Alex Duval, Solenne Farelly, Nadim Hamzaoui, Pierre Laurent-Puig, Julie Metras, Diane Moliere, Martine Muleris, Jeanne Netter, Mehdi Touat, Franck Bielle, Karim Labreche, Romain Nicolle, Geraldine Perkins, Mathilde Warcoin, Florence Coulet, Patrick R. Benusiglio
Summary: Some patients with Lynch syndrome (LS) exhibit extreme phenotypes, such as cancer at an early age or cancer types without screening guidelines. This study investigated the role of additional germline variants in cancer susceptibility genes (CSG) in explaining these phenotypes. Comparison of LS patients with early-onset (EO) and usual-onset (UO) cancer diagnoses revealed an excess of pathogenic variants and variants of unknown significance in the gastrointestinal CSG for the EO group. Notable germline variants were identified, suggesting the consideration of additional variants in future screening recommendations to better assess cancer risk.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Oncology
Archita Biswas, Manuela Salvucci, Kate Connor, Heiko Dussmann, Steven Carberry, Michael Fichtner, Ellen King, Brona Murphy, Alice C. O'Farrell, Jane Cryan, Alan Beausang, Josephine Heffernan, Mattia Cremona, Bryan T. Hennessy, James Clerkin, Kieron J. Sweeney, Steve MacNally, Francesca Brett, Philip O'Halloran, Orna Bacon, Simon Furney, Maite Verreault, Emie Quissac, Franck Bielle, Mohammed H. Ahmed, Ahmed Idbaih, Sieger Leenstra, Ioannis Ntafoulis, Federica Fabro, Martine Lamfers, Anna Golebiewska, Frank Hertel, Simone P. Niclou, Romain Tching Chi Yen, Andreas Kremer, Gonca Dilcan, Francesca Lodi, Ingrid Arijs, Diether Lambrechts, Manasa Kalya Purushothama, Alexander Kel, Annette T. Byrne, Jochen H. M. Prehn
Summary: This study investigated molecular differences between long-term survivors (LTS) and short-term survivors (STS) of glioblastoma (GBM). Cilium gene signatures were found to be enriched in LTS tumors, while STS tumors exhibited abnormal protein expression. These findings provide potential biomarkers and therapeutic targets for the management of GBM.
JOURNAL OF NEURO-ONCOLOGY
(2023)
Review
Oncology
Nicolas Crainic, Julia Furtner, Johan Pallud, Franck Bielle, Giuseppe Lombardi, Roberta Ruda, Ahmed Idbaih
Summary: The 2021 WHO classification has improved the diagnostic criteria for rare glial, neuronal, and glioneuronal tumors. These tumors present challenges in terms of diagnosis and therapeutic management, and require multimodal parameters for accurate diagnosis. Complete resection of the tumor is crucial for treatment, and targeting MAPK pathway abnormalities could be a promising approach for novel drugs.
Letter
Clinical Neurology
P. Guillaume-Jugnot, N. Shor, F. Bielle, C. Zavanone, S. Barete, E. Maillart
REVUE NEUROLOGIQUE
(2023)
Correction
Oncology
Giulia Berzero, Anna Luisa Di Stefano, Susanna Ronchi, Franck Bielle, Chiara Villa, Erell Guillerm, Laurent Capelle, Bertrand Mathon, Alice Laurenge, Marine Giry, Yohann Schmitt, Yannick Marie, Ahmed Idbaih, Khe Hoang-Xuan, Jean-Yves Delattre, Karima Mokhtari, Marc Sanson
Letter
Clinical Neurology
Emmanuelle Uro-Coste, Arnault Tauziede-Espariat, Charlotte Dubucs, Dan Christian Chiforeanu, Aurore Siegfried, Yvan Nicaise, Luc Bauchet, Laurent Riffaud, Franck Bielle, Alexandre Vasiljevic, Romain Appay, Solene Evrard, Pascale Varlet, Valerie Rigau
