Context.—: Molecularly distinct from cutaneous melanomas arising from sun-exposed sites, acral lentiginous melanomas (ALMs) typically lack ultraviolet-signature mutations, such as telomerase reverse transcriptase (TERT) promoter mutations. Instead, ALMs show a high degree of copy number alterations, often with multiple amplifications of TERT, which are associated with adverse prognosis. The prognostic value of TERT protein expression in acral melanomas, however, is not established.
Objective.—: To evaluate the frequency and pattern of TERT immunoreactivity and assess the potential utility of TERT expression as a prognostic indicator in ALMs.
Design.—: TERT expression by immunohistochemistry was analyzed in a series of 57 acral and nonacral melanocytic lesions, including 24 primary and 6 metastatic ALMs. Clinical outcome in patients with ALMs by TERT expression was assessed.
Results.—: TERT expression was more frequent in ALMs than in nonlentiginous acral melanomas and nonacral cutaneous melanomas, and was absent in acral nevi (P = .01). When present, TERT expression in ALMs was cytoplasmic and more intense than TERT expression in other melanocytic lesions (P = .05) with a higher H-score (P = .01). There was a trend toward decreased overall survival in patients with ALMs with TERT immunoreactivity, but it did not reach statistical significance. Furthermore, no correlation was found between TERT expression and disease-specific survival in patients with ALMs.
Conclusions.—: Although TERT protein expression was frequently detected in both primary and metastatic ALMs, TERT immunoreactivity in ALMs did not correlate with survival in our study. Further studies with larger cohorts are needed to elucidate the prognostic value of TERT expression in ALMs.
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http://dx.doi.org/10.5858/arpa.2020-0330-OA | DOI Listing |
Genes Genomics
January 2025
Department of Pediatric Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, Henan, China.
Background: The clinical course of high-risk neuroblastoma patients remains suboptimal, and the dynamic and reversible nature of cellular senescence provides an opportunity to develop new therapies.
Objective: This study aims to identify unique markers of cellular senescence in neuroblastoma and to explore their clinical significance.
Methods: The impact of multiple genetic regulatory mechanisms on cellular senescence-associated genes (CSAGs) was first assessed.
Front Genome Ed
January 2025
State Key Laboratory of Animal Biotech Breeding, China Agricultural University, Beijing, China.
Primordial germ cells (PGCs) play a crucial role in transmitting genetic information to the next-generation. In chickens, genetically edited PGCs can be propagated and subsequently transplanted into recipient embryos to produce offspring with desired genetic traits. However, during early embryogenesis, the effects of external conditions on PGC migration through the vascular system to the gonads have yet to be explored, which may affect the efficiency of preparing gene-edited chickens.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Chemistry and Biochemistry, University of California, Santa Cruz, CA, USA.
Biogenesis of human telomerase requires its RNA subunit (hTR) to fold into a multi-domain architecture that includes the template-pseudoknot (t/PK) and the three-way junction (CR4/5). These hTR domains bind the telomerase reverse transcriptase (hTERT) protein and are essential for telomerase activity. Here, we probe hTR structure in living cells using dimethyl sulfate mutational profiling with sequencing (DMS-MaPseq) and ensemble deconvolution analysis.
View Article and Find Full Text PDFCirc Res
January 2025
Division of Cardiology, Department of Medicine, Pittsburgh Heart, Lung, Blood and Vascular Medicine Institute, University of Pittsburgh, PA. (R.A.C., C.C.C., R.W., A.C., C.B., C.R., W.J.M., M.J. Bashline, A.P., A.M.P., P.B., M.J. Brown, C.S.H.).
Background: Calcific aortic valve disease is the pathological remodeling of valve leaflets. The initial steps in valve leaflet osteogenic reprogramming are not fully understood. As TERT (telomerase reverse transcriptase) overexpression primes mesenchymal stem cells to differentiate into osteoblasts, we investigated whether TERT contributes to the osteogenic reprogramming of valve interstitial cells.
View Article and Find Full Text PDFOphthalmic Genet
January 2025
Department of Ophthalmology, Stein Eye Institute at UCLA, Los Angeles, California, USA.
Purpose: To assess the impact of MitoQ, a mitochondria-targeted antioxidant, on viability of human corneal endothelial cell (hCEnC) lines expressing mutations associated with congenital hereditary endothelial dystrophy (CHED) and Fuchs endothelial corneal dystrophy type 4 (FECD4).
Methods: wildtype () and mutant () hCEnC lines were created to express either variant 2 (V2) or variant 3 (V3) by stable transduction of hCEnC-21T with lentiviruses containing either or one of the following mutations: V2 (V3) mutants c.374 G>A (c.
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