Advancements in Melanoma Treatment: The Role of Gene Expression Profiling
Melanoma remains one of the most significant challenges in oncology, with an estimated 100,640 new cases diagnosed in the United States in 2024 alone. Despite accounting for only 1% of skin cancer cases, it has the highest mortality rate among them. A striking fact is that two out of three patients who develop metastatic melanoma were initially classified as stage I or II. This highlights an urgent need for improved risk stratification and personalized treatment strategies.
A recent case illustrates the transformative potential of gene expression profiling (GEP) in managing melanoma. The patient, initially diagnosed with nodular melanoma, underwent a sentinel lymph node biopsy (SLNB) and wide excision, resulting in a stage IIB classification. Although the traditional staging did not indicate a high risk for recurrence, further testing revealed a more complex picture.
Enter DecisionDx-Melanoma, a 31-gene expression profile test developed by Castle Bioscience. This innovative tool assesses the biological characteristics of the tumor, providing insights into the likelihood of recurrence or metastasis. For our patient, the GEP result classified him as Class 2B—indicating a high risk of recurrence with a predicted five-year recurrence-free survival rate of only 48%.
Given the high-risk classification from the GEP, the patient was treated off-label with nivolumab, an immune checkpoint inhibitor, despite his initial stage IIB status. This decision underscores a crucial shift in melanoma treatment, where the integration of genetic data allows for a more nuanced understanding of individual risk, moving beyond traditional clinical staging alone.
Throughout a year of adjuvant therapy, the patient experienced manageable side effects and has remained disease-free for over four years post-diagnosis. This case exemplifies how GEP can redefine treatment pathways, ensuring that patients receive therapies aligned with their actual risk profiles.
The ongoing evolution of melanoma treatment emphasizes the importance of personalized medicine. As more clinicians adopt tools like the 31-GEP, we can expect enhanced risk assessment and tailored interventions, ultimately improving patient outcomes. Identifying those at higher risk than traditional staging indicates is vital, as many patients with node-negative disease later develop metastases. With advancements in genetic profiling, we are taking meaningful steps toward more effective and individualized melanoma care.
Click here to read the full case report in the original publication authored by Jillian Hunt, MSN, APRN, FNP-C, AOCNP.
Elevate-Derm Alliance Editorial Committee