American Board of Internal Medicine (ABIM) Certification Practice Exam

What genetic mutation should all patients with metastatic melanoma be tested for?

1. BRAF V600 mutation

2. NRAS mutation

3. TP53 mutation

4. KIT mutation

The correct answer is: BRAF V600 mutation

BRAF V600 mutation testing is crucial for all patients diagnosed with metastatic melanoma because this mutation plays a significant role in the pathogenesis of the disease. The presence of the BRAF V600E mutation, in particular, is associated with a more aggressive form of melanoma and has direct implications for treatment options. Targeted therapies, such as BRAF inhibitors (for example, vemurafenib and dabrafenib), have been developed specifically for patients whose tumors have this mutation. When BRAF mutations are present, patients can benefit from these tailored therapies, which have been shown to improve response rates and overall survival. While other mutations, such as NRAS, TP53, and KIT, can also be present in melanoma, testing for the BRAF V600 mutation is prioritized due to the availability of effective targeted treatments and the significant impact on the management strategy for patients with metastatic disease. This highlights the importance of genetic testing in guiding personalized treatment approaches in oncology.