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Melanoma Case Studies

Boris C. Bastian, MD, PhD: What to do With a Negative Test Result in Melanoma

Boris C. Bastian, MD, PhD
Published Online:Aug 03, 2016
Michelle is a 55-year old who was referred by her primary care physician to receive a biopsy for a suspicious mole during a routine visit. Results of the biopsy and other subsequent tests revealed that she had an M1b stage tumor (lung metastasis and a less than ULN LDH level). Her ECOG PS is 0.

Metastatic Melanoma with Adil Daud, MD and Boris C. Bastian, MD, PhD



Should a second test always be used if results are negative, using a more inclusive test like HxID-BRAF or next-generation sequencing?

Using those considerations, if one is concerned about a false negative result, then one should consider other testing options. My preference in these settings is actually to use tests that are less narrow in the spectrum of mutations that they detect. We use Sanger sequencing of the entire exon 15, which detects all those mutations that I mentioned.

CASE: Metastatic Melanoma

Michelle is a 55-year old who was referred by her primary care physician to receive a biopsy for a suspicious mole during a routine visit. Results of the biopsy and other subsequent tests revealed that she had an M1b stage tumor (lung metastasis and a less than ULN LDH level). Her ECOG PS is 0.

  • Initial BRAF testing using a laboratory-developed test was negative for BRAF V600E L
  •  She was referred from the community setting to a tertiary center, at which point a second test was conducted using the bioMérieux HxID-BRAF kit. This assay was positive for the BRAF V600K mutation
  • Following the finding of BRAF-positivity, Michelle was prescribed the combination of dabrafenib (150 mg BID) and trametinib (1 mg daily)
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