Melanoma, Cutaneous Malignant

REYKJAVIK, Iceland, Oct. 29, 2024 /PRNewswire/ --Scientists at deCODE genetics/Amgen, and their collaborators have discovered six novel genes with rare germline variants that associate with cancer risk. The findings are published today in Nature Genetics under the title "Gene-based burden tests of rare germline variants identify six cancer susceptibility genes". Continue Reading Kari Stefansson senior author of the paper, “Gene-based burden tests of rare germline variants identify six cancer susceptibility genes”, published today in Nature Genetics, discusses the paper with Erna V. Ivarsdottir first author on the paper. Kari Stefansson CEO of deCODE genetics and senior author on the paper in Nature Genetics, with Erna V. Ivarsdottir scientists at deCODE genetics and first author. A subset of cancers arises in individuals who are born with rare sequence variants that significantly alter their cancer risk. The discovery of such variants, like those in the BRCA1- and BRCA2 genes, has led to improved early cancer detection and the development of targeted therapies, ultimately reducing the cancer burden and improving prognosis of those carrying these mutations. In this study, the scientists analysed three large genetic datasets from individuals of European descent, including 130,991 cancer patients and 733,486 controls. Through a gene-based burden association analysis across 22 different cancer types, they found four novel genes associated with a risk of developing cancer; the pro-apoptotic BIK for prostate cancer, the autophagy involved ATG12 for colorectal cancer, TG for thyroid cancer, and CMTR2 for both lung cancer and cutaneous melanoma. The relative increase in cancer risk conferred by these variants was substantial (90-295%), but it should be noted that the design of the study does not allow accurate assessment of absolute lifetime cancer risk. Additionally, the researchers found the first genes with rare variants that are associated with a decreased risk of cancer. Specifically, loss of AURKB was found to protect against any cancer type, and loss of PPP1R15A was associated with 53% lower risk of breast cancer. This suggests that inhibition of PPP1R15A may be a therapeutic option for breast cancer. The study revealed new insight into the biological mechanisms involved in cancer predisposition that will hopefully lead to better screening and treatment strategies. Video - Photo - SOURCE deCODE genetics WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

ROTTERDAM, Netherlands and SAN DIEGO, Oct. 24, 2024 /PRNewswire/ -- SkylineDx, an innovative diagnostics company specializing in the research and development of molecular diagnostics for oncology, inflammatory, and infectious diseases, announced today the results of a comprehensive systematic review and meta-analysis conducted by Melanoma Institute of Australia (MIA). This independent study validates the predictive power of SkylineDx's Clinicopathologic Gene Expression Profile (CP-GEP) model, known as the Merlin test, in guiding the decision-making process for Sentinel Lymph Node Biopsy (SLNB) in patients with cutaneous melanoma [1]. SLNB is a standard, yet invasive, procedure used to accurately stage melanoma and guide further treatment. Recommended for patients with melanomas that exceed a Breslow thickness of 1.0 mm, SLNB is crucial in detecting the spread of cancer to the lymph nodes. However, with a relatively low positive detection rate—only 15% to 20% of patients undergoing SLNB have nodal metastasis—many patients undergo the surgery unnecessarily. The Merlin CP-GEP model addresses this issue by identifying patients at low risk for nodal metastasis, allowing them to avoid unnecessary SLNB and its associated risks. The MIA-led study analyzed data from independent external validation studies on the Merlin CP-GEP model published between 2020 and 2024. These studies spanned patient records from 4 countries, offering a comprehensive view of the model's predictive accuracy. The analysis revealed that the CP-GEP model achieved a sensitivity of 93%, meaning it accurately identified 93% of patients with nodal metastasis, while achieving an NPV (Negative Predictive Value) of 95%, indicating that 95% of patients identified as low-risk truly did not have nodal metastasis. The model performed exceptionally well in patients with pT2 melanomas (1.01 – 2.0 mm thickness) [2], significantly reducing the number of unnecessary SLNB procedures. However, in patients with pT1 melanomas (≤1.0 mm thickness) [2], heterogeneity in the data prevented reliable conclusions, highlighting the need for further research. The study [3] also confirmed that patients with pT3 and pT4 melanomas, due to their high risk of nodal metastasis, are less likely to benefit from the Merlin model, as SLNB is generally recommended for these more advanced cases as the risk for a positive node is higher. Commenting on the findings, Associated Professor. Dr. Alexander C.J. van Akkooi, MD, PhD, FRACS, Chair of Melanoma Surgical Oncology at Melanoma Institute Australia and one of the principal investigators, stated, "The data from this independent meta-analysis, consisting of CP-GEP performance across all the studies, shows that Merlin's CP-GEP model is a powerful deselection tool for SLNB, especially for patients with pT2 melanomas. By reducing surgeries, we're improving patient care and making melanoma treatment pathways more efficient." Jvalini Dwarkasing, Chief Scientific Officer of SkylineDx, added, "This independent validation of our Merlin test by one of the world's leading melanoma research institutes is an important milestone. It reinforces the clinical utility of the CP-GEP model in optimizing melanoma care, enabling patients to avoid the risks of surgeries while ensuring that those who need further intervention receive it. We will continue our work to refine and expand the use of Merlin, ensuring its benefits are realized globally." SkylineDx remains committed to advancing innovative diagnostic tools like Merlin CP-GEP, helping to personalize treatment decisions and improve outcomes for melanoma patients. About CP-GEP (Merlin test) CP-GEP is a non-invasive prediction model for cutaneous melanoma patients that combines clinicopathologic (CP) variables with gene expression profiling (GEP). This model is able to stratify patients based on being high or low risk for metastasis and thereby categorize them in the appropriate surgical action categories listed in evidence-based cancer treatment, prevention and screening guidelines. The CP-GEP model was developed by Mayo Clinic and SkylineDx BV and it has been clinically validated in multiple studies. More information (including references) may be obtained at and . The test has been launched in the United States and Europe as Merlin test. SkylineDx collaborates with diagnostic service providers globally to bring this test to market and increase the access. In the United States, Tempus is commercializing Tempus Merlin test. Quest Diagnostics launched their own LDT version of the CP-GEP model in the United States under the brand name MelaNodal Predict™. About SkylineDx SkylineDx is a biotechnology company focused on research & development of molecular diagnostics in oncology inflammatory, and infectious diseases. SkylineDx uses its expertise to bridge the gap between academically discovered gene expression signatures and commercially available diagnostic products with high clinical utility, assisting healthcare professionals in accurately determining the type or status of disease or predicting a patient's response to treatment. Based on test results, healthcare professionals can tailor the treatment approach to the individual patient. SkylineDx is headquartered in Rotterdam. the Netherlands, complemented by a U.S. base of operations and a CAP/CLIA certified laboratory in San Diego California, USA. To learn more about SkylineDx, please visit . Footnotes: T. Wong et. al. Predictive Performance of the Clinicopathologic Gene Expression Profile (CP-GEP) in Identifying Cutaneous Melanoma Patients for Whom Sentinel Lymph Node Biopsy is Unnecessary: A Systematic Review and Meta-Analysis. Understanding Melanoma Staging - Melanoma Research Alliance Sondak et al., Prospective multicenter evaluation (MERLIN_001 trial) of a clinicopathologic and gene expression profile test to predict sentinel node status in T1-T3 cN0 melanoma SOURCE SkylineDx WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

The Merlin test (CP-GEP) stratifies melanoma patients based on risk for sentinel lymph node (SLN) metastasis, offering a powerful tool for risk-based decision-making. ROTTERDAM, Netherlands and SAN DIEGO, Oct. 13, 2024 /PRNewswire/ -- SkylineDx, an innovative diagnostics company specializing in the research and development of molecular diagnostics for oncology, inflammatory, and infectious diseases, announced today new data from the MERLIN_001 prospective US multi-center trial, the largest trial ever conducted to assess the performance of a melanoma genomic assay. The first results from this landmark study were presented in a plenary session for late-breaking abstracts at the Society for Melanoma Research (SMR) Annual Meeting in New Orleans [1]. The trial, conducted at nine academic sites in the United States has been successfully led by three principal investigators Dr. V. Sondak M.D., Chair of the Department of Cutaneous Oncology at Moffitt Cancer Center, Dr. T. Hieken, M.D., Surgical Oncologist and Professor of Surgery, Mayo Clinic, and Dr. M. Egger M.D., M.P.H., Associate Professor, Surgical Oncologist UofL Health Brown Cancer Center Louisville. The trial validated the predictive power of the CP-GEP (Clinical-Pathologic and Gene Expression Profile) Merlin test in identifying sentinel lymph node biopsy (SLNB) status in high risk cutaneous melanoma patients. Sentinel lymph node biopsy is a critical staging procedure in melanoma, often recommended for patients with a predicted SLN metastasis risk of >10%. However, more than 80% of these operations reveal no metastasis, exposing patients to risks of complications, without therapeutic benefit. Merlin test aims to solve this problem by more accurately identifying patients at low risk for SLN metastasis, helping clinicians make informed decisions about optimal selection of patients for SLNB. Vernon Sondak, one of the three principal investigators of the MERLIN_001 trial, stated: "This landmark trial will allow us to have more informed conversations with our patients about their surgical treatment options. These results provide critical insights for clinicians, allowing us to move toward more precise and individualized care." The Merlin test, which integrates clinicopathologic factors such as age and Breslow thickness with an 8-gene expression profile, has now been validated prospectively in a population with an overall SLN positivity rate of over 17%. The study results demonstrate the predictive power of the Merlin test and potential in guiding clinical decisions. The study encompassed 1,686 melanoma patients (T1-T3), all of whom underwent SLNB, and demonstrated that Merlin test could classify 37% of them as Low Risk. Among these Low-Risk patients, only 7.1% had a positive SLN, resulting in a negative predictive value (NPV) of 92.9%. In contrast, 23.8% of High-Risk patients had positive SLNs, showcasing the test's ability to stratify patients according to their risk levels. In the thinnest melanomas (T1): 496 patients with a pre-test risk of 8.9% for nodal metastasis, 67% were classified as Merlin Low-Risk, with an SLNB positivity rate of only 4.8%. By also identifying T2 patients who have a lower risk of nodal metastasis, the Merlin test enables surgeons to explore alternative, less aggressive treatment paths where appropriate, improving individualized care. Low-Risk patients saw a significant reduction in SLNB positivity, while High-Risk patients had 3-fold higher likelihood of SLN positivity, aligning with NCCN guidelines for SLNB referral. About CP-GEP (Merlin test) CP-GEP is a non-invasive prediction model for cutaneous melanoma patients that combines clinicopathologic (CP) variables with gene expression profiling (GEP). This model is able to stratify patients based on being high or low risk for metastasis and thereby categorize them in the appropriate surgical action categories listed in evidence-based cancer treatment, prevention and screening guidelines. The CP-GEP model was developed by Mayo Clinic and SkylineDx BV and it has been clinically validated in multiple studies. More information (including references) may be obtained at and The test has been launched in the United States and Europe as Merlin test. SkylineDx collaborates with diagnostic service providers globally to bring this test to market and increase the access. In the United States, Tempus is commercializing Tempus Merlin test. Quest Diagnostics launched their own LDT version of the CP-GEP model in the United States under the brand name MelaNodal Predict™. About SkylineDx SkylineDx is a biotechnology company focused on research & development of molecular diagnostics in oncology inflammatory, and infectious diseases. SkylineDx uses its expertise to bridge the gap between academically discovered gene expression signatures and commercially available diagnostic products with high clinical utility, assisting healthcare professionals in accurately determining the type or status of disease or predicting a patient's response to treatment. Based on test results, healthcare professionals can tailor the treatment approach to the individual patient. SkylineDx is headquartered in Rotterdam. the Netherlands, complemented by a U.S. base of operations and a CAP/CLIA certified laboratory in San Diego California, USA. To learn more about SkylineDx, please visit . Footnotes: 1. Sondak et al., Prospective multicenter evaluation (MERLIN_001 trial) of a clinicopathologic and gene expression profile test to predict sentinel node status in T1-T3 cN0 melanoma SOURCE SkylineDx WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED