Results 91 to 100 of about 33,733 (216)

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source

Targeting the microbiota‐miRNA‐protease axis: A new therapeutic avenue in melanoma

The FEBS Journal, EarlyView.
Modulation of extracellular matrix (ECM) turnover is central to melanoma progression and metastasis, driven largely by ECM proteases. This review highlights the epigenetic regulation of ECM proteases by microRNAs and their roles in melanoma growth, invasion, and immune modulation.
Elias N. Katsoulieris, Paraskevi Ioannou, Nikolaos A. Afratis   +2 more
wiley   +1 more source

International Dermoscopy Society consensus recommendations for the management of lentigo maligna

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Lentigo maligna (LM) poses diagnostic and therapeutic challenges amid rising incidence and limited high‐quality evidence. This international expert consensus provides pragmatic, evidence‐based and expertise‐informed guidance on LM diagnosis and management.
Ana‐Maria Forsea, Riccardo Pampena, Bengu Nisa Akay, Zoe Apalla, Giuseppe Argenziano, Giulia Briatico, Ralph Braun, Horacio Cabo, Raul Cabrera, Cristina Carrera, Elisa Cinotti, Claudio Conforti, Enzo Errichetti, Gerardo Ferrara, Roberta Giuffrida, Stefania Guida, Pascale Guitera, Allan C. Halpern, Stephen Heyes, Rainer Hofmann‐Wellenhof, Angela M. Hong, Natalia Jaimes, Raimonds Karls, Harald Kittler, Teresa Kränke, Konstantinos Liopyris, Jie Liu, Caterina Longo, Josep Malvehy, Ashfaq A. Marghoob, Hoda Moneib, David Moreno Ramirez, Elvira Moscarella, Eduardo Nagore, Cristian Navarrete‐Dechent, John Paoli, Giovanni Pellacani, Ketty Peris, Susana Puig, Cliff Rosendahl, Lidia Rudnicka, Ahmed Sadek, Philippe Saiag, Gabriel Salerni, Alon Scope, Hans Peter Soyer, Michela V. Starace, Wilhelm Stolz, David L. Swanson, Luc Thomas, Philipp Tschandl, Iris Zalaudek, Aimilios Lallas   +52 more
wiley   +1 more source

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene

Stem Cell Research
The NF1 gene is related to neurofibromatosis type 1 (NF1), which is an autosomal dominant disorder associated with multisystem involvement and epilepsy susceptibility. A human induced pluripotent stem cell (iPSC) line was derived from a pediatric patient
Fan Wu, Xinna Ji, Yanyan Gao, Wanting Liu, Yuanfang Lu, Aiyun Yang, Jianhua Wang, Qian Chen, Xue Zhang   +8 more
doaj   +1 more source

Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach

Journal of Multidisciplinary Healthcare
Shaan Lalvani, Rebecca M Brown Department of Neurology, The Mount Sinai Hospital, New York, NY, USACorrespondence: Rebecca M Brown, MD, PhD, The Mount Sinai Hospital, Department of Neurology, 1216 5th Avenue, New York, NY, 10029, USA, Tel +1 2128248579 ...
Lalvani S, Brown RM
doaj  

Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study

Oral Diseases, EarlyView.
ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna, Gustavo de Souza Vieira, Flávia Lima Kleinsorgen Motta, Ana Beatriz Oliveira Gambôa, Analúcia Rampazzo Xavier, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +6 more
wiley   +1 more source

A Case of Pediatric Spitz Melanoma With a ZEB2::ALK Fusion

Pediatric Dermatology, EarlyView.
ABSTRACT We present a rare case of Spitz melanoma in a 3‐year‐old male patient with a ZEB2::ALK fusion. This ALK‐fused tumor exhibited aggressive behavior, recurring after an initial wide local excision and progressing despite neoadjuvant immunotherapy with a PD‐1 inhibitor.
Nathanael C. Jensen, Shadai Gociman, Sarah D. Cipriano, Casey Mehrhoff   +3 more
wiley   +1 more source