Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma

The recent findings brought the necessity of testing the mutational status of a series of geneswhich had been already identified as responsible for melanomas development andprogression, such as BRAF, CKIT and PTEN: the consequent results are, in fact, essential toguide the assessment of the novel treatment protocols based on tailored targeted therapies.We present here the case of a 66 year-old male patient, diagnosed with an advancedmelanoma in June 2011, and treated with Dabrafenib for double mutant metastatic disease.The patient was referred to our attention for a large exophytic malignant melanoma on theleft shoulder. After complete surgical excision and elective lymph node dissection forpresence of metastatic sentinel lymph node, the patient has started high-dose interferon alfa-2b injections as adjuvant therapy for a complete negative staging. The treatment wasinterrupted in August 2011 due to the appearance of metastatic lymph nodes. Tumor burdenwas rapidly growing reaching in few months the size of a tennis ball for the tumor masslocated in the shoulder. Mutational study of the tumor revealed a double BRAF mutation onV-600E and V600M. This finding incited us to enroll the patient in compassionateDabrafenib clinical trial. The therapy was started on may 2012 at 150 mg bid dosage. Almostsurprisingly for the rapidity of the effect, one week later the lesion on the shoulder hasreduced its size by 60% and one month later it has completely disappeared from sight. CTscan of June 2012 documented the astonishing clinical response.

via Journal of Hematology & Oncology