Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies.

Autor: Perrino MR; Department of Oncology, St Jude Children's Research Hospital, Memphis, Tennessee., Das A; Division of Paediatric Haematology and Oncology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Scollon SR; Department of Pediatrics, Texas Children's Cancer and Hematology Center, Baylor College of Medicine, Houston, Texas., Mitchell SG; Department of Pediatrics, Children's Healthcare of Atlanta, Aflac Cancer and Blood Disorders Center, Emory University School of Medicine, Atlanta, Georgia., Greer MC; Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada., Yohe ME; Center for Cancer Research, National Cancer Institute, Bethesda, Maryland., Hansford JR; Michael Rice Centre for Hematology and Oncology, Women's and Children's Hospital, Adelaide, South Australia, Australia.; South Australia Health and Medical Research Institute, Adelaide, South Australia, Australia.; South Australia ImmunoGENomics Cancer Institute, University of Adelaide, Adelaide, South Australia, Australia., Kalish JM; Division of Genetics and Center for Childhood Cancer Research Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Schultz KAP; Cancer and Blood Disorders, Children's Minnesota, Minneapolis, Minnesota., MacFarland SP; Division of Oncology, Department of Pediatrics, Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania., Kohlmann WK; VA Medical Center, National TeleOncology Clinical Cancer Genetics Service, Durham, North Carolina.; University of Utah Huntsman Cancer Institute, Salt Lake City, Utah., Lupo PJ; Division of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Maxwell KN; Division of Oncology, Department of Pediatrics, Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania.; Medicine Service, Corporal Michael Crescenz Veterans Affairs Medical Center, Philadelphia, Pennsylvania., Pfister SM; Division Pediatric Neurooncology, Hopp Children´s Cancer Center Heidelberg (KiTZ), German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg University Hospital and National Center for Tumor Diseases (NCT), Heidelberg, Germany., Weksberg R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Michaeli O; Division of Hematology and Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Tomlinson GE; Division of Hematology-Oncology, Department of Pediatrics, Greehey Children's Cancer Research Institute, University of Texas Health Science Center at San Antonio, San Antonio, Texas., Brzezinski J; Division of Paediatric Haematology and Oncology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Tabori U; Division of Paediatric Haematology and Oncology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Ney GM; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland., Gripp KW; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, Delaware., Gross AM; Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland., Widemann BC; Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland., Stewart DR; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland., Woodward ER; University of Manchester and Manchester Centre for Genomic Medicine, Manchester, United Kingdom., Kratz CP; Hannover Medical School, Hannover, Germany.

Publikováno v: Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2024 Nov 01; Vol. 30 (21), pp. 4834-4843.

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Autor: Bessis D; Department of Dermatology, Saint-Eloi Hospital, University of Montpellier, Montpellier, France.; French National Reference Centre for Rare Diseases of the Skin and Mucous Membranes of Genetic Origin (MAGEC), University hospital of Montpellier, Montpellier, France.; INSERM U1058, Montpellier, France., Bursztejn AC; Department of Dermatology, Brabois Hospital, University of Nancy, Nancy, France., Morice-Picard F; French National Reference Centre for Rare Diseases of the Skin and Mucous Membranes of Genetic Origin (MAGEC), University hospital of Montpellier, Montpellier, France.; Department of Paediatric Dermatology, Pellegrin University Hospital of Bordeaux, Bordeaux, France., Capri Y; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France.; French National Reference Centre for Developmental Anomalies and Malformative Syndromes - Ile de France, Robert-Debré Hospital, AP-HP, Paris, France., Barbarot S; Department of Dermatology, Hotel Dieu Hospital, University of Nantes, Nantes, France., Aubert H; Department of Dermatology, Hotel Dieu Hospital, University of Nantes, Nantes, France., Bodet D; Department of Paediatric Haematology-Immunology-Oncology, Caen Normandie Hospital and University of Caen, Caen, France., Bourrat E; French National Reference Centre for Rare Diseases of the Skin and Mucous Membranes of Genetic Origin (MAGEC), University hospital of Montpellier, Montpellier, France.; Department of Paediatric Dermatology, Robert-Debré Hospital, AP-HP, Paris, France., Chiaverini C; French National Reference Centre for Rare Diseases of the Skin and Mucous Membranes of Genetic Origin (MAGEC), University hospital of Montpellier, Montpellier, France.; Department of Dermatology, l'Archet 2 Hospital, University of Nice, Nice, France., Poujade L; Department of Dermatology, Saint-Eloi Hospital, University of Montpellier, Montpellier, France.; French National Reference Centre for Rare Diseases of the Skin and Mucous Membranes of Genetic Origin (MAGEC), University hospital of Montpellier, Montpellier, France., Willems M; Department of Clinical Genetics, Arnaud de Villeneuve Hospital, University of Montpellier, Montpellier, France.; French National Reference Centre for Developmental Anomalies - and Malformative Syndromes Sud Ouest Occitanie, University hospital of Montpellier, Montpellier, France., Rouanet J; Department of Dermatology, d'Estaing Hospital and University Hospital of Clermont-Ferrand, Clermont-Ferrand, France., Dompmartin-Blanchère A; Department of Dermatology, Caen Normandie Hospital and University of Caen, Caen, France., Geneviève D; Department of Clinical Genetics, Arnaud de Villeneuve Hospital, University of Montpellier, Montpellier, France.; French National Reference Centre for Developmental Anomalies - and Malformative Syndromes Sud Ouest Occitanie, University hospital of Montpellier, Montpellier, France., Gerard M; Department of Clinical Genetics, Caen Normandie Hospital and University of Caen, Caen, France., Ginglinger E; Department of Clinical Genetics, Émile Muller Hospital, Mulhouse, France., Hadj-Rabia S; French National Reference Centre for Rare Diseases of the Skin and Mucous Membranes of Genetic Origin (MAGEC), University hospital of Montpellier, Montpellier, France.; Department of Paediatric Dermatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France., Martin L; French National Reference Centre for Rare Diseases of the Skin and Mucous Membranes of Genetic Origin (MAGEC), University hospital of Montpellier, Montpellier, France.; Department of Dermatology, Angers Hospital University, Angers, France., Mazereeuw-Hautier J; French National Reference Centre for Rare Diseases of the Skin and Mucous Membranes of Genetic Origin (MAGEC), University hospital of Montpellier, Montpellier, France.; Department of Dermatology, Larrey Hospital, University of Toulouse, Toulouse, France., Bibas N; Department of Dermatology, Larrey Hospital, University of Toulouse, Toulouse, France., Molinari N; Department of Statistics, La Colombière Hospital and University of Montpellier, Montpellier, France., Herman F; Department of Statistics, La Colombière Hospital and University of Montpellier, Montpellier, France., Phan A; Department of Paediatric Dermatology, Femme-Mère-Enfant Hospital-HCL, University of Lyon, Lyon, France., Rod J; Department of Paediatric Surgery, Caen Normandie Hospital and University of Caen, Caen, France., Roger H; Doctor's Office, Clermont-Ferrand, France., Sigaudy S; French National Reference Centre for Developmental Anomalies and Malformative Syndromes - Ile de France, Robert-Debré Hospital, AP-HP, Paris, France.; Department of Clinical Genetics, La Timone Hospital, AP-HM and University of Marseille, Marseille, France., Ziegler A; Department of Clinical Genetics, Hospital and University of Angers, Angers, France., Vial Y; French National Reference Centre for Developmental Anomalies and Malformative Syndromes - Ile de France, Robert-Debré Hospital, AP-HP, Paris, France.; Department of Molecular Genetics, Robert-Debré Hospital, AP-HP, Paris, France., Verloes A; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France.; French National Reference Centre for Developmental Anomalies and Malformative Syndromes - Ile de France, Robert-Debré Hospital, AP-HP, Paris, France., Cavé H; French National Reference Centre for Developmental Anomalies and Malformative Syndromes - Ile de France, Robert-Debré Hospital, AP-HP, Paris, France.; Department of Molecular Genetics, Robert-Debré Hospital, AP-HP, Paris, France., Lacombe D; Department of Clinical Genetics, Pellegrin University Hospital of Bordeaux, Bordeaux, France.; French National Reference Centre for Developmental Anomalies - and Malformative Syndromes SOOR, University Hospital of Bordeaux, Bordeaux, France.; INSERM U1211, Bordeaux, France.

Publikováno v: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2024 Sep; Vol. 38 (9), pp. 1818-1827. Date of Electronic Publication: 2024 Apr 10.

Concurrent rhabdomyosarcoma and neuroblastoma in an infant with Costello syndrome.

Autor: Yu H; Division of Hematology/Oncology, Department of Pediatrics, Rady Children's Hospital-San Diego, San Diego, California, USA.; Department of Pediatrics, University of California San Diego, La Jolla, California, USA., Sridhar S; Division of Hematology/Oncology, Department of Pediatrics, Rady Children's Hospital-San Diego, San Diego, California, USA.; Department of Pediatrics, University of California San Diego, La Jolla, California, USA., Mo J; Department of Pathology, Rady Children's Hospital San Diego, San Diego, California, USA.; Department of Pathology, University of California San Diego, La Jolla, California, USA., Bird LM; Department of Pediatrics, University of California San Diego, La Jolla, California, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California, USA., Elster J; Division of Hematology/Oncology, Department of Pediatrics, Rady Children's Hospital-San Diego, San Diego, California, USA.; Department of Pediatrics, University of California San Diego, La Jolla, California, USA.

Publikováno v: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Aug; Vol. 71 (8), pp. e31084. Date of Electronic Publication: 2024 May 16.

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Autor: Pierpont EI; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Bennett AM; Department of Pharmacology, Yale School of Medicine, New Haven, Connecticut, USA., Schoyer L; RASopathies Network, Los Angeles, California, USA., Stronach B; RASopathies Network, Los Angeles, California, USA., Anschutz A; RASopathies Network, Los Angeles, California, USA., Borrie SC; KU Leuven, Laboratory for the Research of Neurodegenerative Diseases, Leuven, Belgium., Briggs B; School of Medicine, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA., Burkitt-Wright E; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and University of Manchester, Manchester, UK., Castel P; Department of Biochemistry & Molecular Pharmacology, NYU Grossman School of Medicine, New York, New York, USA., Cirstea IC; Institute of Comparative Molecular Endocrinology, Ulm University, Ulm, Germany.; Institute of Applied Physiology, Ulm University, Ulm, Germany., Draaisma F; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Ellis M; RASopathies Network, Los Angeles, California, USA., Fear VS; Translational Genetics, Precision Health, Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia., Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland, USA., Flex E; Department of Oncology and Molecular Medicine, Instituo Superiore di Sanità, Rome, Italy., Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA., Green T; Division of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California, USA., Gripp KW; Division of Medical Genetics, Department of Pediatrics, Nemours Children's Hospital, Orlando, Florida, USA., Khoshkhoo S; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Kieran MW; Research and Development, Day One Biopharmaceuticals, Brisbane, California, USA., Kleemann K; Clinic for Cardiothoracic and Vascular Surgery, University Medical Center Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, Göttingen, Germany., Klein-Tasman BP; Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin, USA., Kontaridis MI; Department of Biomedical Research and Translational Medicine, Masonic Medical Research Institute, Utica, New York, USA.; Division of Cardiology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA., Kruszka P; GeneDx, Gaithersburg, Maryland, USA., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A.Gemelli, IRCCS, Rome, Italy., Liu CZ; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA., Merchant N; Division of Endocrinology, Children's National Hospital, Washington, DC, USA., Magoulas PL; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA., Moertel C; Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Rauen KA; Department of Pediatrics, Division of Genomic Medicine, University of California, Davis, Davis, California, USA., Roelofs R; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Rossignol R; Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Sevilla C; Parent Advocate, CFC Syndrome, Lombard, Illinois, USA., Sevilla G; Self Advocate, CFC Syndrome, Lombard, Illinois, USA., Sheedy R; Parent Advocate, Costello Syndrome, Centerton, Arkansas, USA., Stieglitz E; Department of Pediatrics, Benioff Children's Hospital, University of California, Oakland, California, USA., Sun D; Cancer Biology & Genetics Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Tiemens D; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., White F; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Wingbermühle E; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Wolf C; Department of Pediatric Cardiology and Congenital Heart Disease, German Heart Center Munich, Technical University Munich, Munich, Germany., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Andelfinger G; Department of Anatomy and Cell Biology, McGill School of Biomedical Sciences, Montreal, Quebec, Canada.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63477. Date of Electronic Publication: 2023 Nov 15.

Torpedo maculopathy in Costello syndrome.

Autor: Bouladi M; Ophthalmology Department, Mongi Slim University Hospital, La Marsa, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia; Laboratoire de Recherche « Santé mère enfant » LR22SP01, Tunis, Tunisia. Electronic address: mejda.bouladi@fmt.utm.tn., Ben Othmen A; Ophthalmology Department, Mongi Slim University Hospital, La Marsa, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Dhouha G; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia; Department C, Institute Hedi Raies of Ophthalmology, Tunis, Tunisia., El Fekih L; Ophthalmology Department, Mongi Slim University Hospital, La Marsa, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia; Laboratoire de Recherche « Santé mère enfant » LR22SP01, Tunis, Tunisia.

Publikováno v: Journal francais d'ophtalmologie [J Fr Ophtalmol] 2024 Feb; Vol. 47 (2), pp. 104007. Date of Electronic Publication: 2023 Nov 27.