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Last Posted: Mar 23, 2023
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Early Detection and Prognostic Assessment of Cutaneous Melanoma Consensus on Optimal Practice and the Role of Gene Expression Profile Testing
MK Sabet et al, JAMA Dermatology, March 15, 2023

What are the recommended methods for early detection and prognostic assessment of cutaneous melanoma? In this consensus statement, via a modified Delphi method, melanoma experts supported a risk-stratified approach to various aspects of melanoma screening as well as the use of visual and dermoscopic examination, the interpretation of reflectance confocal microscopy, and some uses of epidermal tape stripping. They did not, based on available evidence, reach consensus on the role for gene expression profile testing in clinical decision-making.

Public Health and Diagnostic Approaches to Risk Stratification for Melanoma
AC Geller et al, JAMA Dermatology, March 15, 2023

Dermatologists and public health experts must remain open to evidence-based new diagnostics that can have a profound effect on practice. However, these important collaborations must be guided by rigorously designed studies and a body of evidence that carefully weighs the benefits and potential harms to patients. In doing so, we must ensure that our education, screening, and incorporation of new diagnostics considers populations and patients who are at greatest risk of fatal melanoma.

Precision oncology for BRAF-mutant cancers with BRAF and MEK inhibitors: from melanoma to tissue-agnostic therapy
MA Gouda et al, ESMO Open, February 24, 2023

BRAF alterations lead to unbridled activation of the MAPK pathway which can result in cancer development and progression. BRAF and MEK inhibitors led to paradigm change in management of BRAF-mutated melanoma, lung, and anaplastic thyroid cancers. BRAF plus MEK inhibitor combination has shown clinical activity in >20 different BRAF V600-positive tumor types. Dabrafenib and trametinib has received FDA accelerated approval for metastatic solid tumors with BRAF V600E mutations. The recent tissue-agnostic approval is transformative as it prioritizes mutational status over tissue of origin.

Persistent mutation burden drives sustained anti-tumor immune responses.
Noushin Niknafs et al. Nature medicine 2023 1

Tumor mutation burden is an imperfect proxy of tumor foreignness and has therefore failed to consistently demonstrate clinical utility in predicting responses in the context of immunotherapy. We evaluated mutations in regions of the genome that are unlikely to undergo loss in a pan-cancer analysis across 31 tumor types (n?=?9,242) and eight immunotherapy-treated cohorts of patients with non-small-cell lung cancer, melanoma, mesothelioma, and head and neck cancer (n?=?524). We discovered that mutations in single-copy regions and those present in multiple copies per cell constitute a persistent tumor mutation burden (pTMB) which is linked with therapeutic response to immune checkpoint blockade.

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.