Article
Clinical Neurology
Cathal John Hannan, Charlotte Hammerbeck-Ward, Omar Nathan Pathmanaban, Miriam J. Smith, Scott A. A. Rutherford, Simon K. K. Lloyd, Simon Richard Mackenzie Freeman, Andrew J. Wallace, Andrew Thomas King, Dafydd Gareth Richard Evans
Summary: Patients presenting with unilateral vestibular schwannomas (UVS) and multiple meningiomas (MM) are more likely to be diagnosed with neurofibromatosis type 2 (NF2) compared to patients with UVS and multiple nonintradermal schwannomas (NIDS), but less likely to develop bilateral vestibular schwannomas. Some patients with MM without meeting NF2 criteria have pathogenic variants in SMARCE1 and mosaic NF2.
Article
Genetics & Heredity
Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans
Summary: The study aims to update the diagnostic criteria for neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging. The updated criteria include clinical features and genetic testing, emphasizing the phenotypic overlap between the two conditions.
GENETICS IN MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Ryota Tamura
Summary: Neurofibromatosis is a neurocutaneous syndrome characterized by tumors in the nervous system, with NF1, NF2, and SWN as its three main types. While NF1 and NF2 have known genetic mutations and targeted therapies, the molecular mechanisms of SWN remain unclear and require further research.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Fanxuan Deng, D. Gareth Evans, Miriam J. Smith
Summary: Schwannomatosis is a rare tumor predisposition syndrome that is difficult to classify and interpret the clinical significance of novel variants. Current classification guidelines can accurately identify most pathogenic variants, but there is a high frequency of LoF LZTR1 variants in the general population, making classification of novel variants challenging.
Article
Clinical Neurology
Nida Fatima, Anna La Dine, Zachary R. Barnard, Gregory P. Lekovic
Summary: Segmental neurofibromatosis (SNF) is a rare subtype of neurofibromatosis (NF) characterized by localized skin and/or subcutaneous manifestations. Spinal neurofibromatosis, on the other hand, is characterized by histologically proven bilateral neurofibromas of the spinal roots. This case report describes a novel manifestation of spinal SNF and discusses treatment options for this rare phenotype.
NEUROLOGICAL SCIENCES
(2022)
Article
Genetics & Heredity
Karthik Muthusamy, Maciej M. Mrugala, Bernard R. Bendok, Radhika Dhamija
Summary: This study highlights the importance of having a high index of suspicion and conducting comprehensive genetic testing in complex phenotypes. Examining the interplay between pathogenic variants in multiple genes could enhance our understanding of pathophysiological pathways and contribute to therapeutic discoveries.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Genetics & Heredity
Karthik Muthusamy, Maciej M. Mrugala, Bernard R. Bendok, Radhika Dhamija
Summary: This study highlights the importance of a high index of suspicion and comprehensive genetic testing for complex phenotypes. Exploring the interaction between pathogenic variants in multiple genes can enhance our understanding of pathophysiologic pathways.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Review
Clinical Neurology
Simge Acar, Edwin Nieblas-Bedolla, Amy E. Armstrong, Angela C. Hirbe
Summary: Recent and ongoing clinical trials have mainly focused on patients with NF1 and the treatment of PNs. This research has resulted in the first FDA-approved drug for NF1-PN and has changed the approach to managing these tumors, allowing for systemic therapy instead of relying solely on surgery. Trials evaluating comorbid psychiatric conditions and quality of life among NF patients appear to be less common. These areas may require more attention in future studies to enhance clinical management.
PEDIATRIC NEUROLOGY
(2022)
Article
Clinical Neurology
Sulaman Durrani, William Mualem, Ali Shoushtari, Karim Rizwan Nathani, Mohamad Bydon
Summary: This study provides a quantitative analysis of the historical and current state of academic efforts regarding neurofibromatosis (NF). The findings reveal a shift towards targeted therapies focusing on specific pathways involved in tumorigenesis and highlight the top 20 genetic and molecular pathways associated with NF.
WORLD NEUROSURGERY
(2022)
Article
Genetics & Heredity
Vanessa L. Merker, Pamela Knight, Heather B. Radtke, Kaleb Yohay, Nicole J. Ullrich, Scott R. Plotkin, Justin T. Jordan
Summary: This study evaluated the level of awareness of and agreement with published neurofibromatosis (NF) clinical guidelines among NF specialists in the United States. The results showed wide variability in both awareness of and agreement with the guidelines among the experts. Future quality improvement efforts should focus on evidence-based, consensus-driven methods to update and disseminate these guidelines to support collaboration among this multi-specialty group of providers.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Review
Genetics & Heredity
Cristina Perez-Becerril, D. Gareth Evans, Miriam J. Smith
Summary: NF1, NF2, and schwannomatosis are genetic disorders predisposing to nerve sheath tumors, with pathogenic variants located in different genes. While most pathogenic variants can be identified through genetic screening, a proportion of cases remain undetected, especially in schwannomatosis.
Article
Dermatology
Eran Cohen-Barak, Hagit Toledano-Alhadef, Nada Danial-Farran, Ido Livneh, Banan Mwassi, Maysa Hriesh, Fadia Zagairy, Chen Gafni-Amsalem, Husam Bashir, Morad Khayat, Nassim Warrour, Osnat Sher, Daphna Marom, Sergey Postovsky, Tal Dujovny, Michael Ziv, Stavit A. Shalev
Summary: The study identified germline mutations in NF1 and LZTR1 genes, as well as a somatic variant in GNAZ, in a 9-month-old NF1 patient with life-threatening plexiform neurofibroma. Cellular analysis revealed increased ERK 1/2 activation in cells expressing mutant GNAZ, suggesting a synergistic effect of NF1, LZRT1, and GNAZ variants contributing to the severity of the patient's condition. Treatment with the MEK inhibitor trametinib resulted in significant clinical improvement, supporting the use of targeted therapy based on individual genetic variations.
EXPERIMENTAL DERMATOLOGY
(2022)
Review
Medicine, General & Internal
Gaetano Magro, Giuseppe Broggi, Giuseppe Angelico, Lidia Puzzo, Giada Maria Vecchio, Valentina Virzi, Lucia Salvatorelli, Martino Ruggieri
Summary: Peripheral nerve sheath tumors include a range of lesions with different biological behavior, such as neurofibromas, schwannomas, and perineuriomas. These tumors can occur as isolated lesions or in association with other neurofibromatosis or schwannomatosis. Malignant peripheral nerve sheath tumors are soft tissue sarcomas that may arise from a peripheral nerve or pre-existing neurofibromas.
Review
Oncology
Anja Harder
Summary: MEK 1/2 inhibitors (MEKi) have shown potential in reducing the volume of low grade gliomas and plexiform neurofibromas in NF1, and research targeting other high morbidity lesions in NF1 also shows promise. Moreover, MEKi are used in combination therapies due to involvement of multiple pathways in NF2 associated lesions and malignant tumors.
BIOMARKER RESEARCH
(2021)
Article
Genetics & Heredity
Jineta Banerjee, Jan M. Friedman, Laura J. Klesse, Kaleb H. Yohay, Justin T. Jordan, Scott R. Plotkin, Robert J. Allaway, Jaishri O. Blakeley
Summary: This study investigated whether patients with rare diseases such as neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), or schwannomatosis (SWN) are more susceptible to SARS-CoV-2 infection and severe COVID-19. The results showed that the proportion of positive cases in NF1, NF2, or SWN patients was not significantly higher than in individuals without these rare diseases. There were no severe outcomes reported in the NF2 or SWN cohorts, and the proportion of severe outcomes in NF1 patients was similar to other rare disease cohorts and the general population.
GENETICS IN MEDICINE
(2023)
Article
Clinical Neurology
Samiya Abi Jaoude, Matthieu Peyre, Vincent Degos, Stephane Goutagny, Beatrice Parfait, Michel Kalamarides
Summary: In this study, the authors analyzed predictors of rapid meningioma growth in NF2 patients using a dedicated predicting model. They found that larger tumor volume at diagnosis, presence of peritumoral edema, absence of calcifications, and hyperintense or isointense signal on T2-weighted MRI were significantly associated with rapid tumor growth. The authors' multivariate model showed a similar predictive ability to the AIMSS score in this NF2 cohort.
JOURNAL OF NEUROSURGERY
(2021)
Article
Gastroenterology & Hepatology
Thierry Poynard, Valerie Paradis, Jimmy Mullaert, Olivier Deckmyn, Nathalie Gault, Estelle Marcault, Pauline Manchon, Nassima Si Mohammed, Beatrice Parfait, Mark Ibberson, Jean-Francois Gautier, Christian Boitard, Sebastien Czernichow, Etienne Larger, Fabienne Drane, Jean Marie Castille, Valentina Peta, Angelique Brzustowski, Benoit Terris, Anais Vallet-Pichard, Dominique Roulot, Cedric Laouenan, Pierre Bedossa, Laurent Castera, Stanislas Pol, Dominique Valla
Summary: The study aimed to externally validate the performance of Nash-FibroTest panel in assessing the severity of fibrosis stages, NASH grades, and steatosis grades in patients with type 2 diabetes. The diagnostic performance of each component of the panel was found to be significant, providing non-invasive diagnosis of fibrosis stages, NASH grades, and steatosis grades from a single blood sample.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2021)
Article
Infectious Diseases
Solen Kerneis, Caroline Elie, Jacques Fourgeaud, Laure Choupeaux, Severine Mercier Delarue, Marie-Laure Alby, Pierre Quentin, Juliette Pavie, Patricia Brazille, Marie Laure Nere, Marine Minier, Audrey Gabassi, Aurelien Gibaud, Sebastien Gauthier, Chrystel Leroy, Etienne Voirin-Mathieu, Claire Poyart, Michel Vidaud, Beatrice Parfait, Constance Delaugerre, Jean-Marc Treluyer, Jerome LeGoff
Summary: This study aimed to evaluate the diagnostic accuracy of nasopharyngeal antigen rapid testing and saliva nucleic acid testing for detecting SARS-CoV-2 in ambulatory care settings. The findings suggest that the diagnostic accuracy of saliva nucleic acid testing and nasopharyngeal antigen testing is similar to that of nasopharyngeal nucleic acid testing, but adherence to specific saliva protocols is required.
EUROPEAN JOURNAL OF CLINICAL MICROBIOLOGY & INFECTIOUS DISEASES
(2021)
Letter
Biochemistry & Molecular Biology
Paul Loubet, Linda Wittkop, Eric Tartour, Beatrice Parfait, Benoit Barrou, Jean-Yves Blay, Maryvonne Hourmant, Marie Lachatre, David-Axel Laplaud, Martine Laville, Bruno Laviolle, Jean-Daniel Lelievre, Jacques Morel, Stephanie Nguyen, Jean-Philippe Spano, Benjamin Terrier, Anne Thiebaut, Jean-Francois Viallard, Francois Vrtovsnik, Xavier de Lamballerie, Odile Launay
Article
Oncology
Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Theodora Maillard, Cecile Barbance, Fanny Morice-Picard, Sabine Sigaudy, Olga O. Glazunova, Lena Damaj, Valerie Layet, Chloe Quelin, Brigitte Gilbert-Dussardier, Frederique Audic, Helene Dollfus, Anne-Marie Guerrot, James Lespinasse, Sophie Julia, Marie-Christine Vantyghem, Magali Drouard, Marilyn Lackmy, Bruno Leheup, Yves Alembik, Alexia Lemaire, Patrick Nitschke, Florence Petit, Anne Dieux Coeslier, Eugenie Mutez, Alain Taieb, Melanie Fradin, Yline Capri, Hala Nasser, Lyse Ruaud, Benjamin Dauriat, Sylvie Bourthoumieu, David Genevieve, Severine Audebert-Bellanger, Mathilde Nizon, Radka Stoeva, Geoffroy Hickman, Gael Nicolas, Juliette Mazereeuw-Hautier, Arnaud Jannic, Salah Ferkal, Beatrice Parfait, Michel Vidaud, Pierre Wolkenstein, Eric Pasmant
Summary: NF1 gene deletion is identified in 5-10% of NF1 patients, leading to a more severe phenotype characterized by cognitive impairments and various organic abnormalities. This study provides new insights into the specific clinical features associated with NF1 gene deletions, contributing to better follow-up care for affected patients.
Article
Dermatology
C. Bergqvist, L. Fertitta, K. Ezzedine, A. Jannic, O. Zehou, S. Ferkal, P. Combemale, S. Barbarot, J. Mazereeuw-Hautier, E. Sbidian, P. Wolkenstein
Summary: This study aimed to identify underlying subtypes of NF1 without any prior hypotheses. Through latent class analysis of 1351 NF1 patients, three distinct classes were found: cutaneous neurofibromas class, subcutaneous neurofibromas class, and dysmorphic phenotype class. Patients in different classes showed variations in disease manifestations and complications.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Article
Multidisciplinary Sciences
Jerome LeGoff, Solen Kerneis, Caroline Elie, Severine Mercier-Delarue, Nabil Gastli, Laure Choupeaux, Jacques Fourgeaud, Marie-Laure Alby, Pierre Quentin, Juliette Pavie, Patricia Brazille, Marie Laure Nere, Marine Minier, Audrey Gabassi, Chrystel Leroy, Beatrice Parfait, Jean-Marc Treluyer, Constance Delaugerre
Summary: The study found that the sensitivity of detecting SARS-CoV-2 RNA in saliva using RT-LAMP is lower compared to nasopharyngeal RT-PCR, saliva RT-PCR, and nasopharyngeal antigen testing. Additionally, the sensitivity of saliva RT-LAMP testing varies significantly based on different reference test criteria.
SCIENTIFIC REPORTS
(2021)
Article
Allergy
Julien Rossignol, Amani Ouedrani, Cristina Bulai Livideanu, Stephane Barete, Louis Terriou, David Launay, Richard Lemal, Celine Greco, Laurent Frenzel, Cecile Meni, Christine Bodemere-Skandalis, Laura Polivka, Anne-Florence Collange, Hassiba Hachichi, Sonia Bouzourine, Djazira Nait Messaoud, Mathilde Negretto, Laurence Vendrame, Marguerite Jambou, Marie Gousseff, Stephane Durupt, Jean-Christophe Lega, Jean-Marc Durand, Caroline Gaudy, Gandhi Damaj, Marie-Pierre Gourin, Mohamed Hamidou, Laurence Bouillet, Edwige Le Mouel, Alexandre Maria, Patricia Zunic, Quentin Cabrera, Denis Vincent, Christian Lavigne, Etienne Riviere, Clement Gourguechon, Marie Courbebaisse, David Lebeaux, Beatrice Parfait, Gerard Friedlander, Anne Brignier, Ludovic Lhermitte, Thierry Jo Molina, Julie Bruneau, Julie Agopian, Patrice Dubreuil, Dana Ranta, Alexandre Mania, Michel Arock, Isabelle Staropoli, Olivier Tournilhac, Olivier Lortholary, Olivier Schwartz, Lucienne Chatenoud, Olivier Hermine
Summary: This study investigated the outcomes of patients with cMCAD with COVID-19 and characterized their specific anti-SARS-CoV-2 immune response. The results showed that patients with cMCAD may not be at risk of severe COVID-19, possibly due to their spontaneous production of IFN-gamma.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2022)
Article
Medical Laboratory Technology
Guillaume Beinse, Bruno Borghese, Marie Metairie, Pierre-Alexandre Just, Geoffroy Poulet, Simon Garinet, Beatrice Parfait, Audrey Didelot, Camille Bourreau, Natacha Agueeff, Alexandre Lavolle, Benoit Terris, Charles Chapron, Francois Goldwasser, Karen Leroy, Helene Blons, Pierre Laurent-Puig, Valerie Taly, Jerome Alexandre
Summary: This study aimed to identify DNA positions universally hypermethylated in endometrial carcinoma (EC) and develop a digital droplet PCR (ddPCR) assay for detection of hypermethylated circulating tumor DNA (meth-ctDNA) in plasma from EC patients. The study found that methylation of ZSCAN12/OXT can be highly specific and sensitive in detecting ctDNA in plasma, providing promise for personalized approaches for EC patients.
CLINICAL CHEMISTRY
(2022)
Letter
Biochemistry & Molecular Biology
Diana Molino, Christine Durier, Anne Radenne, Corinne Desaint, Jacques Ropers, Soizic Courcier, Louis Victorien Vieillard, Claire Rekacewicz, Beatrice Parfait, Victor Appay, Frederic Batteux, Emmanuel Barillot, Michel Cogne, Behazine Combadiere, Christiane S. Eberhardt, Guy Gorochov, Philippe Hupe, Laetitia Ninove, Stephane Paul, Isabelle Pellegrin, Sylvie van der Werf, Maeva Lefebvre, Elisabeth Botelho-Nevers, Inmaculada Ortega-Perez, Marie Jaspard, Samba Sow, Jean Daniel Lelievre, Xavier de Lamballerie, Marie Paule Kieny, Eric Tartour, Odile Launay
Article
Genetics & Heredity
Laurence Pacot, Valerie Pelletier, Albain Chansavang, Audrey Briand-Suleau, Cyril Burin des Roziers, Audrey Coustier, Theodora Maillard, Nicolas Vaucouleur, Lucie Orhant, Cecile Barbance, Alban Lermine, Nadim Hamzaoui, Djihad Hadjadj, Ingrid Laurendeau, Laila El Khattabi, Juliette Nectoux, Michel Vidaud, Beatrice Parfait, Helene Dollfus, Eric Pasmant, Dominique Vidaud
Summary: This case report highlights the importance of whole genome sequencing (WGS) in diagnosing patients with neurofibromatosis type 1 (NF1). WGS can detect structural variants, including copy number variants, that may be missed by other methods. By detecting the pathogenic variant in the cell-free DNA of the patient's pregnant partner, targeted genetic counseling and non-invasive prenatal diagnosis were made possible.
Article
Infectious Diseases
Paul Loubet, Linda Wittkop, Laetitia Ninove, Mathieu Chalouni, Benoit Barrou, Jean-Yves Blay, Maryvonne Hourmant, Eric Thouvenot, Martine Laville, Bruno Laviolle, Jean-Daniel Lelievre, Jacques Morel, Stephanie Nguyen Quoc, Jean-Philippe Spano, Benjamin Terrier, Anne Thiebaut, Jean-Francois Viallard, Francois Vrtovsnik, Sophie Circosta, Laure Esterle, Axel Levier, Philippe Vanhems, Eric Tartour, Beatrice Parfait, Xavier de Lamballerie, Odile Launay
Summary: This study aimed to investigate the 1-month humoral response to two or three doses of mRNA COVID-19 vaccine in specific populations compared with healthy adults. The results showed a lower humoral response in the specific populations. However, the third dose of the vaccine had a positive effect on the immune response.
CLINICAL MICROBIOLOGY AND INFECTION
(2023)
Article
Genetics & Heredity
Raphael Leman, Beatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot, Gerald Le Gac, Chandran Ka, Claude Ferec, Yann Fichou, Celine Quesnelle, Camille Aucouturier, Etienne Muller, Dominique Vaur, Laurent Castera, Flavie Boulouard, Agathe Ricou, Helene Tubeuf, Omar Soukarieh, Pascaline Gaildrat, Florence Riant, Marine Guillaud-Bataille, Sandrine M. Caputo, Virginie Caux-Moncoutier, Nadia Boutry-Kryza, Francoise Bonnet-Dorion, Ines Schultz, Maria Rossing, Olivier Quenez, Louis Goldenberg, Valentin Harter, Michael T. Parsons, Amanda B. Spurdle, Thierry Frebourg, Alexandra Martins, Claude Houdayer, Sophie Krieger
Summary: This article introduces a splicing prediction pipeline called SPiP, which comprehensively assesses the impact of variants on different splicing motifs using a machine learning approach. The results show that SPiP has high sensitivity and specificity, and can effectively detect spliceogenic variants.
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
Christine Durier, Laetitia Ninove, Maeva Lefebvre, Anne Radenne, Corinne Desaint, Jacques Ropers, Rebecca Bauer, Said Lebbah, Diane Carette, Marie Lachatre, Anne-Sophie Lecompte, Dominique Deplanque, Elisabeth Botelho-Nevers, Anne Conrad, Bertrand Dussol, Zoha Maakaroun-Vermesse, Giovanna Melica, Jean-Francois Nicolas, Renaud Verdon, Jacques Kiladjian, Paul Loubet, Catherine Schmidt-Mutter, Christian Duale, Severine Ansart, Stephane Priet, Axel Levier, Diana Molino, Louis-Victorien Vieillard, Beatrice Parfait, Jean-Daniel Lelievre, Eric Tartour, Xavier de Lamballerie, Odile Launay
Summary: The immune response generated by a COVID-19 vaccine booster against delta and omicron variants was evaluated in 65 adults (aged 65-84) shortly after receiving the first booster dose. The study showed an increase in SARS-CoV-2 neutralizing antibodies in individuals who had not been previously infected, regardless of age, while a smaller increase was observed in those who had been infected before receiving a single dose of the primary vaccine. It is important to note that the humoral response was only observed starting from the 5th day after the booster dose.
SCIENTIFIC REPORTS
(2022)