Results 41 to 50 of about 264 (130)

Clinicogenomic Features and Outcomes of Adenoid Cystic Carcinoma With Central Nervous System Metastases: A Single‐Institution Cohort Study

Head &Neck, EarlyView.
ABSTRACT Background Adenoid cystic carcinoma (ACC) is a rare malignancy with a propensity for perineural invasion and hematogenous spread. Central nervous system (CNS) involvement is uncommon, and detailed clinical and genomic data on this aspect of the disease remain limited.
Omar Elghawy, Jack Stylli, Martin Kurian, Eitan Halper‐Stromberg, Aditi Singh, Christopher D'Avella, Lee Hartner, Roger B. Cohen   +7 more
wiley   +1 more source

MR lymphangiography of lymphatic abnormalities in children and adults with Noonan syndrome

Scientific Reports, 2022
Noonan syndrome is associated with complex lymphatic abnormalities. We report dynamic-contrast enhanced MR lymphangiography (DCMRL) findings in children and adults with Noonan syndrome to further elucidate this complex disease spectrum.
C. C. Pieper, J. Wagenpfeil, A. Henkel, S. Geiger, T. Köster, K. Hoss, J. A. Luetkens, C. Hart, U. I. Attenberger, A. Müller   +9 more
doaj   +1 more source

Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family

Frontiers in Cardiovascular Medicine, 2023
Noonan syndrome with multiple lentigines (NSML, formerly known as LEOPARD syndrome) is a variant of Noonan syndrome which is an autosomal dominant disorder.
Chon-Hou Chan, Man-Fong Chu, U-Po Lam, Toi-Meng Mok, Weng-Chio Tam, Brian Tomlinson, Ricardo Coelho, Màrio Évora   +7 more
doaj   +1 more source

Identification and clinical impact of potentially actionable somatic oncogenic mutations in solid tumor samples

Journal of Translational Medicine, 2020
Background An increasing number of anti-cancer therapeutic agents target specific mutant proteins that are expressed by many different tumor types. Successful use of these therapies is dependent on the presence or absence of somatic mutations within the ...
Sinead Toomey, Aoife Carr, Mateusz Janusz Mezynski, Yasir Elamin, Shereen Rafee, Mattia Cremona, Clare Morgan, Stephen Madden, Khairun I. Abdul-Jalil, Kathy Gately, Angela Farrelly, Elaine W. Kay, Susan Kennedy, Kenneth O’Byrne, Liam Grogan, Oscar Breathnach, Patrick G. Morris, Alexander J. Eustace, Joanna Fay, Robert Cummins, Anthony O’Grady, Roshni Kalachand, Norma O’Donovan, Fergal Kelleher, Aine O’Reilly, Mark Doherty, John Crown, Bryan T. Hennessy   +27 more
doaj   +1 more source

Myeloid Focal Adhesion Kinase Promotes Macrophage Accumulation but Does Not Alter Tumor Progression in Hepatocellular Carcinoma

Molecular Carcinogenesis, EarlyView.
ABSTRACT Hepatocellular carcinoma (HCC) develops within an immunologically complex tumor microenvironment that is heavily shaped by infiltrating myeloid cells. Immune‐based treatment strategies such as atezolizumab plus bevacizumab have shown promising therapeutic benefits, but patients do not experience durable responses.
Eugene Ham, Kyle Boedeker, Claudia Rose Keating, Ruisong Ye, Frankie Montalbano, Sophia Mankaruse, Xianzhong Ding, Jonathan P. Rennhack, Wei Qiu   +8 more
wiley   +1 more source

Myeloablative Busulfan, Fludarabine and Melphalan Conditioning for Allogeneic Hematopoietic Stem Cell Transplantation in Childhood Myeloid Malignancy

Asia-Pacific Journal of Clinical Oncology, EarlyView.
We report our single‐center experience of transplant outcomes with a busulfan, fludarabine and melphalan‐based conditioning regimen for children < 18 years of age. The regimen was shown to be well tolerated and effective for heavily pretreated children with high‐risk myeloid malignancies prior to allogeneic hematopoietic stem cell transplant.
Mayank Dhamija, Fiona Kerr, Hazel Gough, Johnathan Soggee, Laurence C. Cheung, Rishi S. Kotecha, Shanti Ramachandran   +6 more
wiley   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Phosphatase-independent functions of SHP2 and its regulation by small molecule compounds

Journal of Pharmacological Sciences, 2020
SHP2 is a non-receptor protein tyrosine phosphatase encoded by the PTPN11 gene in human. Clinically, SHP2 has been identified as a causal factor of several diseases, such as Noonan syndrome, LEOPARD syndrome as well as myeloid malignancies. Interestingly,
Wenjie Guo, Qiang Xu
doaj   +1 more source

Glomeruloid haemangioma in Erdheim–Chester disease: An atypical skin manifestation associated with elevated vascular endothelial growth factor‐A levels

British Journal of Haematology, EarlyView.
Glomeruloid haemangiomas and extensive angiomas occurred in a small subset of Erdheim–Chester disease patients, all showing markedly elevated vascular endothelial growth factor‐A (VEGF‐A) levels despite the absence of POEMS (polyneuropathy, organomegaly, M‐spike, and skin disease) syndrome.
Jerome Razanamahery, Matthias Papo, Francesco Pegoraro, Felix Blaison, Paul Legendre, Valentin Carado, Martin Caretti, Aubriot Lorton Marie Helene, Jean‐Francois Emile, Augusto Vaglio, Julien Haroche   +10 more
wiley   +1 more source

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results

Data in Brief, 2018
A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of ...
Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, Francesco Gesualdo, Maria Cristina Digilio, Anwar Baban, Sonia B. Albanese, Paolo Versacci, Enrica De Luca, Giovanni B. Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan P. Kaski, Giulia Tuo, Maria Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino   +26 more
doaj   +1 more source