scholarly journals Mutational Characterization of Cutaneous Melanoma Supports Divergent Pathways Model for Melanoma Development

Cancers ◽  
2021 ◽  
Vol 13 (20) ◽  
pp. 5219
Author(s):  
David Millán-Esteban ◽  
María Peña-Chilet ◽  
Zaida García-Casado ◽  
Esperanza Manrique-Silva ◽  
Celia Requena ◽  
...  
Keyword(s):  
Targeted Therapies ◽  
Cutaneous Melanoma ◽  
Gene Panel ◽  
Diverse Group ◽  
Pathway Model ◽  
Pathways Model ◽  
Melanoma Patients ◽  
Molecular Profiles ◽  
Biological Entities

According to the divergent pathway model, cutaneous melanoma comprises a nevogenic group with a propensity to melanocyte proliferation and another one associated with cumulative solar damage (CSD). While characterized clinically and epidemiologically, the differences in the molecular profiles between the groups have remained primarily uninvestigated. This study has used a custom gene panel and bioinformatics tools to investigate the potential molecular differences in a thoroughly characterized cohort of 119 melanoma patients belonging to nevogenic and CSD groups. We found that the nevogenic melanomas had a restricted set of mutations, with the prominently mutated gene being BRAF. The CSD melanomas, in contrast, showed mutations in a diverse group of genes that included NF1, ROS1, GNA11, and RAC1. We thus provide evidence that nevogenic and CSD melanomas constitute different biological entities and highlight the need to explore new targeted therapies.

scholarly journals Molecular characterization of Polychromophilus parasites of Scotophilus kuhlii bats in Thailand

Parasitology ◽  
2020 ◽  
pp. 1-5
Author(s):  
Chatree Chumnandee ◽  
Nawarat Pha-obnga ◽  
Oskar Werb ◽  
Kai Matuschewski ◽  
Juliane Schaer
Keyword(s):  
Blood Cells ◽  
Clinical Symptoms ◽  
Temperate Climate ◽  
Diverse Group ◽  
Malaria Parasites ◽  
Climate Zones ◽  
Haemosporidian Parasites ◽  
South And Southeast Asia ◽  
Molecular Investigation

Abstract Parasites of the haemosporidian genus Polychromophilus have exclusively been described in bats. These parasites belong to the diverse group of malaria parasites, and Polychromophilus presents the only haemosporidian taxon that infects mammalian hosts in tropical as well as in temperate climate zones. This study provides the first information of Polychromophilus parasites in the lesser Asiatic yellow bat (Scotophilus kuhlii) in Thailand, a common vespertilionid bat species distributed in South and Southeast Asia. The gametocyte blood stages of the parasites could not be assigned to a described morphospecies and molecular analysis revealed that these parasites might represent a distinct Polychromophilus species. In contrast to Plasmodium species, Polychromophilus parasites do not multiply in red blood cells and, thus, do not cause the clinical symptoms of malaria. Parasitological and molecular investigation of haemosporidian parasites of wildlife, such as the neglected genus Polychromophilus, will contribute to a better understanding of the evolution of malaria parasites.

scholarly journals Mass Spectrometry-Based Proteomic Characterization of Cutaneous Melanoma Ectosomes Reveals the Presence of Cancer-Related Molecules

2020 ◽  
Vol 21 (8) ◽  
pp. 2934 ◽  
Author(s):  
Magdalena Surman ◽  
Sylwia Kędracka-Krok ◽  
Dorota Hoja-Łukowicz ◽  
Urszula Jankowska ◽  
Anna Drożdż ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Protein Content ◽  
Cell Lines ◽  
Cutaneous Melanoma ◽  
Epithelial Mesenchymal Transition ◽  
Mesenchymal Transition ◽  
Starting Point ◽  
Novel Biomarkers

Cutaneous melanoma (CM) is an aggressive type of skin cancer for which effective biomarkers are still needed. Recently, the protein content of extracellular vesicles (ectosomes and exosomes) became increasingly investigated in terms of its functional role in CM and as a source of novel biomarkers; however, the data concerning the proteome of CM-derived ectosomes is very limited. We used the shotgun nanoLC–MS/MS approach to the profile protein content of ectosomes from primary (WM115, WM793) and metastatic (WM266-4, WM1205Lu) CM cell lines. Additionally, the effect exerted by CM ectosomes on recipient cells was assessed in terms of cell proliferation (Alamar Blue assay) and migratory properties (wound healing assay). All cell lines secreted heterogeneous populations of ectosomes enriched in the common set of proteins. A total of 1507 unique proteins were identified, with many of them involved in cancer cell proliferation, migration, escape from apoptosis, epithelial–mesenchymal transition and angiogenesis. Isolated ectosomes increased proliferation and motility of recipient cells, likely due to the ectosomal transfer of different cancer-promoting molecules. Taken together, these results confirm the significant role of ectosomes in several biological processes leading to CM development and progression, and might be used as a starting point for further studies exploring their diagnostic and prognostic potential.

scholarly journals Prevalence of BRAF and NRAS mutations in cutaneous melanoma patients in Taiwan

2016 ◽  
Vol 115 (2) ◽  
pp. 121-127 ◽  
Author(s):  
Yi-Shuan Sheen ◽  
Yi-Hua Liao ◽  
Jau-Yu Liau ◽  
Ming-Hsien Lin ◽  
Yi-Chun Hsieh ◽  
...  
Keyword(s):  
Cutaneous Melanoma ◽  
Melanoma Patients

Adjuvant PD-1 inhibitor versus high-dose interferon α-2b for Chinese patients with cutaneous and acral melanoma: A retrospective cohort analysis.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e21516-e21516
Author(s):  
Jiuhong Wang ◽  
Jingjing Li ◽  
Xing Liu ◽  
Xizhi Wen ◽  
Dandan Li ◽  
...  
Keyword(s):  
Cutaneous Melanoma ◽  
Chinese Patients ◽  
Interferon Α ◽  
High Dose ◽  
Free Survival ◽  
Acral Melanoma ◽  
Treatment Groups ◽  
Melanoma Patients ◽  
Metastatic Sites ◽  
High Dose Interferon

e21516 Background: The clinical efficacy of PD-1 inhibitors as an adjuvant treatment for Asian melanoma patients has not yet been determined. Methods: Thus, this single-centre, retrospective study analysed the clinical data of 90 Chinese patients with completely resected, stage III cutaneous or acral melanoma who received either adjuvant PD-1 inhibitor or high-dose interferon α-2b (HDI). Propensity score matching (PSM) was used to control baseline differences between the two treatment groups. The primary end point was recurrence-free survival (RFS), and the secondary end points included distance metastasis-free survival (DMFS) and incidence of first distant metastatic sites. Results: Anti-PD-1 treatment resulted in significantly longer RFS (18-month RFS, 53.3% versus 26.7%; 95% CI, 0.097-0.975; P < 0.05) and DMFS (18-month DMFS, 70.9% versus 46.1%; 95% CI, 0.13-0.945; P < 0.05) than HDI in cutaneous melanoma patients. However, adjuvant anti-PD-1 treatment had no advantage over HDI in acral melanoma patients (18-month RFS, 30.0% versus 35.9%; P > 0.05; 18-month DMFS, 36.5% versus 63.6%; P > 0.05). The incidence of lung metastasis at first in the anti-PD-1 group was found to be significantly lower (12.5% versus 48.5%; P < 0.05) in cutaneous melanoma patients than in acral melanoma patients, but no difference in metastatic sites were observed between the two treatment groups among acral melanoma patients. The incidence of treatment-related AEs was similar between the two treatment groups. Conclusions: In conclusion, adjuvant anti-PD-1 treatment was well tolerated and yielded a significantly better prognosis than HDI in Chinese patients with stage IIIB/C cutaneous melanoma, but a significant difference was not observed in those with acral melanoma.

scholarly journals Characterization of intellectual disability and autism comorbidity through gene panel sequencing

2019 ◽  
Vol 40 (9) ◽  
pp. 1346-1363 ◽  
Author(s):  
Maria C. Aspromonte ◽  
Mariagrazia Bellini ◽  
Alessandra Gasparini ◽  
Marco Carraro ◽  
Elisa Bettella ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Gene Panel ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

scholarly journals Modulation of risk of cutaneous melanoma patients by variants in STAT3 gene and functional analysis

2019 ◽  
Vol 30 ◽  
pp. v14-v15
Author(s):  
G.V.B. Gomez ◽  
L.M.O. Monteiro ◽  
R.S. Rocha ◽  
G.J. Lourenço ◽  
C.S.P. Lima
Keyword(s):  
Functional Analysis ◽  
Cutaneous Melanoma ◽  
Melanoma Patients

scholarly journals Genomic Biomarkers of Meningioma: A Focused Review

2021 ◽  
Vol 22 (19) ◽  
pp. 10222
Author(s):  
Jacob A. Pawloski ◽  
Hassan A. Fadel ◽  
Yi-Wen Huang ◽  
Ian Y. Lee
Keyword(s):  
Targeted Therapies ◽  
Recurrence Risk ◽  
Tumor Location ◽  
Genetic Mutations ◽  
Low Grade ◽  
Diverse Group ◽  
The Future ◽  
Genetic Landscape ◽  
The Impact ◽  
The Way

Meningiomas represent a phenotypically and genetically diverse group of tumors which often behave in ways that are not simply explained by their pathologic grade. The genetic landscape of meningiomas has become a target of investigation as tumor genomics have been found to impact tumor location, recurrence risk, and malignant potential. Additionally, targeted therapies are being developed that in the future may provide patients with personalized chemotherapy based on the genetic aberrations within their tumor. This review focuses on the most common genetic mutations found in meningiomas of all grades, with an emphasis on the impact on tumor location and clinically relevant tumor characteristics. NF-2 and the non-NF-2 family of genetic mutations are summarized in the context of low-grade and high-grade tumors, followed by a comprehensive discussion regarding the genetic and embryologic basis for meningioma location and phenotypic heterogeneity. Finally, targeted therapies based on tumor genomics currently in use and under investigation are reviewed and future avenues for research are suggested. The field of meningioma genomics has broad implications on the way meningiomas will be treated in the future, and is gradually shifting the way clinicians approach this diverse group of tumors.

scholarly journals Combination of Pembrolizumab with Electrochemotherapy in Cutaneous Metastases from Melanoma: A Comparative Retrospective Study from the InspECT and Slovenian Cancer Registry

Cancers ◽  
2021 ◽  
Vol 13 (17) ◽  
pp. 4289
Author(s):  
Luca G. Campana ◽  
Barbara Peric ◽  
Matteo Mascherini ◽  
Romina Spina ◽  
Christian Kunte ◽  
...  
Keyword(s):  
Cancer Registry ◽  
Immune Checkpoint ◽  
Cutaneous Melanoma ◽  
Immune Checkpoint Inhibitors ◽  
Checkpoint Inhibitors ◽  
Locoregional Therapy ◽  
Tumor Control ◽  
Melanoma Metastases ◽  
Melanoma Patients ◽  
Cutaneous Melanoma Metastases

Electrochemotherapy (ECT) is an effective locoregional therapy for cutaneous melanoma metastases and has been safely combined with immune checkpoint inhibitors in preliminary experiences. Since ECT is known to induce immunogenic cell death, its combination with immune checkpoint inhibitors might be beneficial. In this study, we aimed to investigate the effectiveness of ECT on cutaneous melanoma metastases in combination with pembrolizumab. We undertook a retrospective matched cohort analysis of stage IIIC–IV melanoma patients, included in the International Network for sharing practices of ECT (InspECT) and the Slovenian Cancer Registry. We compared the outcome of patients who received the following treatments: (a) pembrolizumab alone, (b) pembrolizumab plus ECT, and (c) ECT. The groups were matched for age, sex, performance status, and size of skin metastases. The local objective response rate (ORR) was higher in the pembrolizumab-ECT group than in the pembrolizumab group (78% and 39%, p < 0.001). The 1 year local progression-free survival (LPFS) rates were 86% and 51% (p < 0.001), and the 1 year systemic PFS rates were 64% and 39%, respectively (p = 0.034). The 1 year overall survival (OS) rates were 88% and 64%, respectively (p = 0.006). Our results suggest that skin-directed therapy with ECT improves superficial tumor control in melanoma patients treated with pembrolizumab. Interestingly, we observed longer PFS and OS in the pembrolizumab-ECT group than in the pembrolizumab group. These findings warrant prospective confirmation.

Sign in / Sign up

Export Citation Format

Share Document