Extended Data Table 5.
Genomic Testing Methodology
| Study ID | Histiocytosis | MAPK Pathway Mutation | Assays |
|---|---|---|---|
| 1 | ECD | ARAF S225V | WES, TES |
| 2 | RDD | No mutation identified | None |
| 3 | ECD | KRAS R149G | WES, TES |
| 4 | RDD | No mutation identified | WES, TES, TRS |
| 5 | ECD | BRAF V600E | PCR |
| 6 | ECD | BRAF V600E | TES, TRS, cfDNA |
| 7 | ECD | BRAF V600E | WES, PCR |
| 8 | ECD | BRAF V600E | PCR |
| 9 | LCH | BRAF N486_T491del | WES, TES, TRS |
| 10 | Mixed Histiocytosis | RAF1 K106N | WES, TES, TRS |
| 11 | Mixed Histiocytosis | MEK1 P124L | WES, TES, TRS, Sequenom |
| 12 | ECD | MEK1 P124Q | WES, TES, TRS |
| 13 | ECD | MEK1 Q56P | WES, TES |
| 14 | ECD | MEK1 P105_l107del | WES, TES |
| 15 | ECD | MEK2 Y134H | WES, TES, cfDNA |
| 16 | ECD | KRAS G12R / ARAF P216A | TES |
| 17 | LCH | BRAF V600E / NRAS G12D / KRAS G13C | TES |
| 18 | ECD | No mutation identified | WES, TES |
ECD: Erdheim-Chester disease; LCH: Langerhans cell histiocytosis; RDD: Rosai-Dorfman disease; CR: complete response; PR: partial response; SD: stable disease; TES: Targeted Exon Sequencing; TRS: Targeted RNA Sequencing; cfDNA: Cell-Free DNA; PCR; polymerase chain reaction; WES: Whole Exome Sequencing; NE: Not-Evaluable; NA: Not Applicable