Genomic Analysis of Circulating Tumor DNA Using a Melanoma-Specific UltraSEEK Oncogene Panel

Publication date: Available online 5 February 2019Source: The Journal of Molecular DiagnosticsAuthor(s): Elin S. Gray, Tom Witkowski, Michelle Pereira, Leslie Calapre, Karl Herron, Darryl Irwin, Brett Chapman, Muhammad A. Khattak, Jeanette Raleigh, Athena Hatzimihalis, Jonathan Cebon, Shahneen Sandhu, Grant A. McArthur, Michael Millward, Melanie Ziman, Alexander Dobrovic, Stephen Q. WongThe analysis of circulating tumor DNA provides a minimally invasive molecular interrogation that has the potential to guide treatment selection and disease monitoring. Here, the authors evaluated a custom UltraSEEK melanoma panel for the MassARRAY system, probing for 61 mutations over 13 genes. The analytical sensitivity and clinical accuracy of the UltraSEEK melanoma panel was compared with droplet digital PCR. The blinded analysis of 68 mutations detected in 48 plasma samples from stage IV melanoma patients revealed a concordance of 88% between the two platforms. Further comparison of both methods for the detection of BRAF V600E mutations in 77 plasma samples demonstrated a Cohen's κ of 0.826 (bias-corrected and accelerated 95% CI, 0.669–0.946). These results indicate that the UltraSEEK melanoma panel is as sensitive as droplet digital PCR for the detection of circulating tumor DNA in this cohort of patients but highlight the need for detected variants to be confirmed orthogonally to mitigate any false-positive results. The MassARRAY system enables rapid and sensitive genotyping ...
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research

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Abstract An accurate profiling of the genomic landscape is mandatory to establish the best clinical and therapeutic approach for patients with solid malignancies. Moreover, tumor cells constantly adapt to external pressures-i.e., systemic treatment-with the selection and expansion of resistant subclones and the emergence of heterogeneous overlapping genomic alterations of resistance. The current standard for molecular characterization in cancer is the performance of a tissue tumor biopsy at the time of diagnosis and, when possible, a re-biopsy at the time of progression. However, tissue biopsy is not always feasib...
Source: Cell Research - Category: Cytology Authors: Tags: Recent Results Cancer Res Source Type: research
A skin cancer protection program in Australia led to marked changes in sun-related behaviors that correspond to a reduction in the incidence of melanoma over the same period, suggest survey results.Medscape Medical News
Source: Medscape Med Students Headlines - Category: Universities & Medical Training Tags: Hematology-Oncology News Source Type: news
CONCLUSION: Accurate assessment of the regional lymph node status by SNB is becoming even more important in the era of novel effective adjuvant therapies for microscopic nodal disease. Whether complete lymph node dissection is performed in patients with a positive SN needs to be assessed individually. In the case of "active nodal surveillance" instead of surgery, long-term close follow-up in specialized centers, including ultrasonographic controls, is required. PMID: 31605168 [PubMed - as supplied by publisher]
Source: Der Hautarzt: Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - Category: Dermatology Tags: Hautarzt Source Type: research
The objectives were to study the expression of very late antigen (VLA)-4, melanoma cell adhesion molecule-1 (MCAM-1) and activated leukocyte cell adhesion molecule (ALCAM) on CD4+ T cells during natalizumab treatment and to investigate the association with disease activity.We find that subgroups of autoreactive T cells are retained in peripheral blood, in particular MOG-reactive CD4+ T cells expressing MCAM-1. The expression of MCAM-1 or ALCAM on CD4+ T cells was, however, not clearly associated with disease activity (clinical or MRI) during natalizumab treatment.
Source: Journal of Neuroimmunology - Category: Allergy & Immunology Authors: Source Type: research
CONCLUSIONS: STAT3-induced upregulation of SNHG17 contributed to the progression of melanoma by promoting the PI3K-AKT signaling. PMID: 31599425 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
Authors: deShazo R, Soltani-Arabshahi R, Krishnasamy S, Langley RG, Kalia S, Ståhle M, Langholff W, Goyal K, Fakharzadeh S, Galindo C, Srivastava B, Krueger G Abstract To the Editor: Patients with psoriasis are at increased risk of developing non melanoma skin cancer (NMSC), including squamous cell carcinoma (SCC) and basal cell carcinoma (BCC).1,2 The risk is especially elevated among those who previously received systemic treatment or phototherapy.2 Systemic treatments, including biologic therapies and methotrexate (MTX), are effective in managing immune-mediated diseases; however, they may increase suscept...
Source: Journal of Drugs in Dermatology - Category: Dermatology Tags: J Drugs Dermatol Source Type: research
Getting a reliable diagnosis of melanoma can be a significant challenge for pathologists. The diagnosis relies on a pathologist ’s visual assessment of biopsy material on microscopic slides, which can often be subjective. Now, UCLA researchers have found that obtaining a second opinion from pathologists who are board certified or have fellowship training in dermatopathology can help improve the accuracy and reliability of diagnosing melanoma, one of the deadliest and most aggressive forms of skin cancer.“A diagnosis is the building block on which all other medical treatment is based,” said Dr. Joann ...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news
Pancreatic cancer is a rare cancer that carries a poor 5 year survival rate of approximately 5% [1]. Approximately 5% to 10% of individuals with pancreatic cancer report having a closely related family member also being diagnosed with pancreatic cancer [2]. Several known genetic syndromes, such as hereditary breast-ovarian cancer syndrome (HBOC) [3], Lynch syndrome [4], familial adenomatous polyposis [5], familial atypical multiple mole melanoma syndrome [6], hereditary pancreatitis [7], Peutz-Jeghers syndrome [8], and Li-Fraumeni syndrome [9] are associated with increased risk of pancreatic cancer.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
Abstract In non-pigmented skin tumors the diagnosis is mainly based on the evaluation of the vascular morphology and vessels´ distribution dermoscopically [1-4]. However, up to date, no study formally correlated the prevailing vascular morphology with the thickness of melanoma according to Breslow and amount of pigmentation. PMID: 31605621 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
Source: The Doctors Lounge - Oncology - Category: Cancer & Oncology Tags: Family Medicine, Oncology, News, Source Type: news
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