PT - JOURNAL ARTICLE AU - Giovanni Ponti AU - Giovanni Pellacani AU - Aldo Tomasi AU - Fabio Gelsomino AU - Andrea Spallanzani AU - Roberta Depenni AU - Samer Al Jalbout AU - Lisa Simi AU - Lorella Garagnani AU - Stefania Borsari AU - Andrea Conti AU - Cristel Ruini AU - Annalisa Fontana AU - Gabriele Luppi TI - The somatic affairs of <em>BRAF</em>: tailored therapies for advanced malignant melanoma and orphan non-V600E (V600R-M) mutations AID - 10.1136/jclinpath-2012-201345 DP - 2013 May 01 TA - Journal of Clinical Pathology PG - 441--445 VI - 66 IP - 5 4099 - http://jcp.bmj.com/content/66/5/441.short 4100 - http://jcp.bmj.com/content/66/5/441.full SO - J Clin Pathol2013 May 01; 66 AB - BRAF V600R-M-D are uncommon mutations, not included in the experimental protocols of BRAF selective inhibitors. We report the evaluation of correlations among different types of BRAF somatic mutations in melanoma and their management with BRAF inhibitors. 21 patients with BRAF mutated metastatic melanoma were enrolled in the protocol with BRAF inhibitors for compassionate use at the University of Modena. Hot spot V600E mutations were found in 19 patients. V600R mutation and double (V600E -V600M) mutation were identified in two melanomas. In one case, V600K mutation was found. Two screening failures were noted. Mean progression free survival at follow-up of to 8 weeks, was 7.6 months. Five patients had a very short follow-up and the experimental protocol is still ongoing, so we cannot provide complete follow-up data. However, all of them are still under treatment and disease progression free. An objective response with few side effects was observed in all patients. in vitro studies with the aim of testing drug sensitivity.