Publications by authors named "C Nieves Hernandez-Leon"
Article Synopsis
- Prognostic biomarkers are important for understanding sporadic desmoid tumors (DT) due to their unpredictable nature; this study focused on gene expression differences between DTs located in the thoracic versus abdominal wall.
- A retrospective analysis of 197 sporadic DT patients showed significant relationships between relapse-free survival (RFS) and factors like tumor size, location, and specific gene mutations, notably the CTNNB1 T41A and S45F mutations.
- Results suggest that tumors in the abdominal wall have a better prognosis compared to extra-abdominal locations, with distinct gene expression profiles influencing cancer pathways related to their behavior and outcomes.
HMGA1 is a structural epigenetic chromatin factor that has been associated with tumor progression and drug resistance. Here, we reported the prognostic/predictive value of HMGA1 for trabectedin in advanced soft-tissue sarcoma (STS) and the effect of inhibiting HMGA1 or the mTOR downstream pathway in trabectedin activity. The prognostic/predictive value of HMGA1 expression was assessed in a cohort of 301 STS patients at mRNA (n = 133) and protein level (n = 272), by HTG EdgeSeq transcriptomics and immunohistochemistry, respectively.
View Article and Find Full Text PDFCryopyrin-associated periodic syndrome is a rare and probably underdiagnosed disease. It presents with various systemic manifestations, including ophthalmological, making its diagnosis a challenge for the clinician. We present the case of a 4-year-old girl for which the identification of papilledema in the ophthalmological examination was the key sign for the diagnosis of cryopyrin-associated periodic syndrome.
View Article and Find Full Text PDFShort Brown Parallel Lines on the Proximal Nail Fold. Clinical-Dermoscopic-Histologic Correlation of a Melanocytic Nevus of the Eponychium.
Skin Appendage Disord
March 2023
Introduction: Although Hutchinson's sign can appear associated with benign conditions, dermoscopic findings of non-melanoma eponychium pigmentation have not yet been described in the literature. We report for the first time to our knowledge the dermoscopic findings of an acral nevus located in the proximal nail fold as well as its clinical-dermoscopic-histologic correlation.
Case Report: A twenty-year-old patient presented with a homogeneous longitudinal melanonychia on the left-hand thumb, with benign dermoscopic pattern, and an irregular, 6-mm, dark-brown hyperpigmented macule on the adjacent eponychium (Hutchinson's sign).