Summary of RDD cases assessed for BRAF mutations
Reference | Cases examined (n) | Method of assessment | BRAF mutation found |
Chakraborty et al 15 | 4 | qPCR, whole exome sequencing, AmpliSeq | None |
Go et al 16 | 5 | qPCR Sanger sequencing, PNAcqPCR | None |
Haroche et al 13 | 23 | Pyrosequencing—PyroMark Q24 (QIAGEN) | None |
Fatobene et al 17 | 13 | pddPCR | BRAF V600E (1 case) |
Cohen Aubart et al 18 | 47 | Pyrosequencing | None |
Richardson et al 19 | 1 | NGS and Sanger sequencing | BRAF variant—deletion in the β3-αC loop of the kinase domain in exon 12 |
Mastropolo et al 20 | 1 | BRAF pV600E on PBMCs | BRAF V600E |
Total | 94 | – | 2 (BRAF V600E) 1 (BRAF variant) |
NGS, next generation sequencing; PBMCs, peripheral blood mononuclear cells; pddPCR, picodroplet digital PCR; PNAcqPCR, peptide nucleic acid clamp PCR; qPCR, quantitative PCR; RDD, Rosai-Dorfman-Destombes disease.