Results 201 to 210 of about 116,502 (262)

A Spotlight on Yolk‐sac Tumors: Molecular Pathology, Current Diagnostics, and Novel Therapeutics

Andrology, EarlyView.
ABSTRACT Background Yolk‐sac tumors are an aggressive subtype of testicular cancer that significantly contribute to disease progression and therapy resistance, especially in adults. While testicular cancer generally has high cure rates with cisplatin‐based treatment, adult yolk‐sac tumors often appear as components of mixed tumors with poor response to
Evangelos Prokakis, Lisa Schneider, Felix Bremmer, Daniel Nettersheim   +3 more
wiley   +1 more source

Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes. [PDF]

Intern Med
Watanabe H, Takahashi Y, Namiki T, Nakagawa R, Inui T, Ishikawa H, Wakamatsu M, Muramatsu H, Sakamoto T.   +8 more
europepmc   +1 more source

Building a precision therapeutics program at a tertiary care children's hospital

Pediatric Investigation, EarlyView.
Luke Hamilton, Heidi Trinkman, Diana Carrasco, Kaitlin Smith, Kelly Vallance, Alejandra Dominguez, Danielle Miller, Megan Gibbs, Anish Ray   +8 more
wiley   +1 more source

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Fertility Preservation in BRCA1/2 Germline Mutation Carriers: An Overview. [PDF]

Life (Basel)
Silvestris E, Cormio G, Loizzi V, Corrado G, Arezzo F, Petracca EA.   +5 more
europepmc   +1 more source

Distinct clinical and genetic characteristics of myelodysplastic syndrome in younger patients

British Journal of Haematology, EarlyView.
Summary Myelodysplastic neoplasms (formerly myelodysplastic syndromes, MDS) are heterogeneous clonal haematological malignancies that primarily affect the elderly, though a notable proportion of patients are diagnosed at younger ages. We retrospectively analysed 1437 patients diagnosed or treated at Asan Medical Center between 1989 and 2022, comparing ...
Hyunkyung Park, Eun‐Ji Choi, Young‐Uk Cho, Yunsuk Choi, Han‐Seung Park, Jung‐Hee Lee, Joon Young Hur, Jisu Jeong, Seungah Cha, Yueun Lee, Young‐Shin Lee, Young‐Ah Kang, Mijin Jeon, Ji Min Woo, Hyeran Kang, Je‐Hwan Lee   +15 more
wiley   +1 more source

Novel <i>LZTR1</i> germline mutation as a mechanism of resistance to osimertinib in <i>EGFR</i>-mutated lung adenocarcinoma: a case report. [PDF]

Transl Lung Cancer Res
Park W, Fricke J, Mambetsariev I, Velasquez G, Nadaf-Rahrov R, Dingal ST, Kim P, Babikian R, Amini A, Afkhami M, Salgia R.   +10 more
europepmc   +1 more source

Patient‐specific genomic measurable residual disease markers for monitoring acute myeloid leukaemia and myeloid malignancy

British Journal of Haematology, EarlyView.
Standardised DNA based measurable residual disease (MRD) monitoring is possible for acute myeloid leukaemia (AML) and myeloid malignancy patients. Targeted next‐generation sequencing (NGS) and RNA‐seq permit marker development for clinically identified lesions and whole genome sequencing (WGS) permits MRD marker development in patients without ...
Libby Huang, Louise Doculara, Luis Enriquez, Jodie Giles, Umma Habiba, Anita Y. Bahar, Tammy Law, Weronika Lesnowolska, Hannah McCalmont, Erika Ong, Laura Piras, Benjamin Schreiber, Nicola Venn, Wiebke Wessels, Yianni Bletas, Minjina Kang, Sam Yuen, Patrick Strong, Paulette Barahona, Ann‐Kristin Altekoester, Kimberly Dias, Dianne Sylvester, Marie Erasmus Wong, Renee Eslick, Luciano Dalla Pozza, Bhavna Padhye, Ashanka Beligaswatte, Chow Yee Lai, Michelle Ng, Chris Fraser, David Hughes, Seong Lin Khaw, Karen McCleary, Sophie Jessop, Manika Pal, Lucie Winkowska, Jan Zuna, Patrizia Larghero, Rolf Marschalek, Claus Meyer, Rishi S. Kotecha, Andrew S. Moore, Mark J. Cowley, Rosemary Sutton, Michelle J. Henderson, Toby N. Trahair   +45 more
wiley   +1 more source

Correction for Zhu et al., Population size interacts with reproductive longevity to shape the germline mutation rate. [PDF]

Proc Natl Acad Sci U S A
europepmc   +1 more source

Whole‐genome and transcriptome analysis in relapsed/refractory non‐Hodgkin lymphoma: Results from a multicentre precision oncology cohort

British Journal of Haematology, EarlyView.
Summary Comprehensive genome and transcriptome profiling can inform the diagnosis, prognosis and management of relapsed/refractory (R/R) solid malignancies, yet its integration into clinical care has lagged despite strong biological rationale. We evaluated the clinical utility of whole genome and transcriptome analysis (WGTA) in 65 patients (37 ...
Kathleen Wee, Eric J. Zhao, Cassidy Clemente‐Jones, Rebecca J. Deyell, Shahrad R. Rassekh, Anita Villani, Rosemarie Venier, Daniel Sinnett, Sylvie Langlois, Thai Hoa Tran, Thomas Sontag, Stephanie Grover, Scott Davidson, Nisha Kanwar, Winnie Lo, Erin Pleasance, Laura Williamson, Yaoqing Shen, Alina S. Gerrie, Kerry J. Savage, Laurie H. Sehn, Christopher P. Venner, Marco A. Marra, Janessa Laskin, Diego Villa   +24 more
wiley   +1 more source