Hi David,
Sorry you are dealing with this. Like most things in melanoma….things are murky here.
Here is a report in which a person with what seems to be a similar mutation did very well on a BRAF/MEK combo:
Cancer Genet. 2014 Jun;207(6):272-5. doi: 10.1016/j.cancergen.2014.06.022. Epub 2014 Jun 18.
What you are missing could matter: a rare, complex BRAF mutation affecting codons 599, 600, and 601 uncovered by next generation sequencing.
Wilson MA1, Morrissette JJ2, McGettigan S1, Roth D3, Elder D3, Schuchter LM1, Daber RD4.
Author information:
1
Division of Hematology/Oncology, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
2
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
3
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
4
Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA. Electronic address: [email protected].
Abstract
Testing for somatic mutations in tumor samples is becoming standard practice in a number of tumor types where targeted therapies are available. Since clinical care is dependent on the identification of the presence or absence of specific mutations, it is important that these mutations be identified consistently and accurately. Here we identify in a patient with metastatic melanoma a novel, complex mutation involving BRAF c.1798A>T (p.T599T), c.1799T>A (p.V600E), and c.1803A>T (p.K601N) that was identified by next generation sequencing but not by standard testing methods. The patient was started on a combination therapy inhibiting both BRAF and MEK, and demonstrated a dramatic clinical response. This case highlights the need for improved methods of mutation testing in tumor samples and exposes a pitfall in allele-specific testing methods that can be overcome using next generation sequencing.
With a slightly different slant…here is a link to a rather technical paper…that seems to indicate that MEKi alone might be a better approach:
http://www.cell.com/cms/attachment/2035741994/2051265477/mmc2.pdf
Bottom line…I would contact these particular researchers and see what they have to say about what they wrote. Research papers always list a contact mechanism for the authors. The last paper is from folks out of Sloan Kettering. The first is from the Hospital of the University of PA.
Hope this gives you a start. I wish you my best. Celeste
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I wish you well! c
