Results 81 to 90 of about 34,178 (233)

Quizartinib Resistance Mutations and Treatment Outcomes in Relapsed or Refractory FLT3‐ITD–Positive AML

Cancer Science, EarlyView.
ABSTRACT Quizartinib is a FMS‐like tyrosine kinase 3 (FLT3) inhibitor indicated for FLT3 internal tandem duplication (FLT3‐ITD)–positive acute myeloid leukemia (AML). We aimed to evaluate quizartinib resistance mechanisms, in addition to efficacy and safety outcomes, in patients with relapsed or refractory FLT3‐ITD–positive AML.
Yuichiro Semba, Toshihiro Miyamoto, Senji Kasahara, Yoshikane Kikushige, Takahiro Maeda, Goichi Yoshimoto, Shuichi Ota, Akio Saito, Yuho Najima, Hiroki Hosoi, Daigo Niiya, Koji Kato, Koji Nagafuji, Takashi Akasaka, Tomohiko Kamimura, Atsushi Takita, Maiko Narahara, Tadashi Toki, Koichi Iwanaga, Koji Yonemoto, Mine Harada, Koichi Akashi   +21 more
wiley   +1 more source

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1

Gynecologic Oncology Reports, 2018
Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene encoding neurofibromin, which negatively regulates Ras signaling. NF1 patients have an increased risk of developing early onset breast cancer, however, the association between NF1 and ...
Eric J. Norris, Wendell D. Jones, Marius D. Surleac, Andrei J. Petrescu, Darla Destephanis, Qing Zhang, Issam Hamadeh, Jeffrey S. Kneisl, Chad A. Livasy, Ram N. Ganapathi, David L. Tait, Mahrukh K. Ganapathi   +11 more
doaj   +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

Accelerated long‐term forgetting in children with neurofibromatosis type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate the presence of accelerated long‐term forgetting after a 7‐day delay in children with neurofibromatosis type 1 (NF1), using an adapted verbal memory recall task, Experimental Word Recall Task (EWRT), and to examine its relationship with other cognitive abilities.
Jessica Habib, Melanie Porter, Jonathan M Payne, Shelley Arnold, Kristina M Haebich, Dinberu Shebeshi, Suncica Lah, Michael Gascoigne, Natalie A Pride   +8 more
wiley   +1 more source

Poorly differentiated lung adenocarcinomas with concurrent ALK and CD30 expression: a diagnostic pitfall mimicking ALK‐positive anaplastic large‐cell lymphoma

Histopathology, EarlyView.
Poorly differentiated lung adenocarcinomas with concurrent anaplastic lymphoma kinase (ALK) and CD30 expression closely mimic ALK‐positive anaplastic large‐cell lymphoma, creating a significant diagnostic pitfall. Accurate classification requires comprehensive integration of clinical, radiologic, morphologic, immunophenotypic and molecular findings ...
Jietian Jin, Wenjian Cen, Qin Yan, Yangshan Chen, Chaoyun Huang, Yanfeng Feng, Neng Jiang   +6 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

The NF1 tumor suppressor regulates PD-L1 and immune evasion in melanoma

Cell Reports
Summary: Hotspot BRAF, hotspot NRAS, and NF1 loss-of-function mutations are found in approximately 50%, 25%, and 15% of cutaneous melanomas, respectively. Compared to mutant BRAF and NRAS, the role of NF1 loss in melanoma remains understudied.
Diana Berry, Dan Moldoveanu, Shivshankari Rajkumar, Mathieu Lajoie, Tiffany Lin, Daméhan Tchelougou, Samridhi Sakthivel, Itai Sharon, Antoine Bernard, Sandy Pelletier, Yael Ripstein, Alan Spatz, Wilson H. Miller, Rahima Jamal, Réjean Lapointe, Anne-Marie Mes-Masson, Kevin Petrecca, Ari-Nareg Meguerditchian, Keith Richardson, Beatrice Wang, May Chergui, Marie-Christine Guiot, Kevin Watters, John Stagg, T. Martin Schmeing, Francis Rodier, Simon Turcotte, Catalin Mihalcioiu, Sarkis Meterissian, Ian R. Watson   +29 more
doaj   +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

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
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