Histological findings
| Patient . | Time between LCH and ECD diagnosis (y) . | LCH histology . | BRAFV600E mutation . | ECD histology . | BRAFV600E mutation . |
|---|---|---|---|---|---|
| 1 | <1 | Skin | Negative | Retroperitoneal fibrosis | Negative |
| 2 | <1 | Skin, bone | Negative | None | — |
| 3 | <1 | Lymph node | Positive | Skin, bone (2), hypodermis | Positive |
| 4 | <1 | Skin (2) | Negative | Retroperitoneal fibrosis | ND |
| 5 | <1 | Bone | Negative* | None | — |
| 6 | <1 | Bone, skin | Negative | Skin | ND |
| 7 | <1 | Skin† | Positive | Skin,† mesentery | Positive (mesentery) |
| 8 | <1 | Bone† | Positive | Bone† | Positive |
| 9 | <1 | Skin | Positive | Retroperitoneal fibrosis | Positive |
| 10 | ND | CNS† | Positive | CNS,† bone | Positive‡ |
| 11 | ND | Skin (2) | Positive | None | — |
| 12 | 14 | Skin (3†) | Positive | Pleura, skin (3†), heart | Positive (pleura) |
| 13 | 22 | Bone | ND | Retroperitoneal fibrosis | ND |
| 14 | 11 | Bone | ND | Retroperitoneal fibrosis | ND |
| 15 | 2 | Skin (2), bone (2†), liver (2), lymph node | Positive (lymph node) | Bone† | ND |
| 16 | 18 | Bone (2† + 1), skin (2†) | Positive (bone) | Skin (1† + 1), bone (3†), retroperotineal fibrosis | Positive (skin) |
| 17 | 20 | Lung, mesentery | ND | Retroperotineal fibrosis | Negative |
| 18 | 2 | CNS | ND | Heart, lung | Positive |
| 19 | 20 | Skin (3), liver, bone | ND | None | — |
| 20 | 22 | Bone (3), skin (4) | Positive (skin) | None | — |
| 21 | 13 | Bone† | ND | Bone (1† + 1) | ND |
| 22 | 4 | Skin (3) | ND | Retroperitoneal fibrosis | ND |
| 23 | 3 | Skin (4) | Positive‡ | Bone | Positive |
| Patient . | Time between LCH and ECD diagnosis (y) . | LCH histology . | BRAFV600E mutation . | ECD histology . | BRAFV600E mutation . |
|---|---|---|---|---|---|
| 1 | <1 | Skin | Negative | Retroperitoneal fibrosis | Negative |
| 2 | <1 | Skin, bone | Negative | None | — |
| 3 | <1 | Lymph node | Positive | Skin, bone (2), hypodermis | Positive |
| 4 | <1 | Skin (2) | Negative | Retroperitoneal fibrosis | ND |
| 5 | <1 | Bone | Negative* | None | — |
| 6 | <1 | Bone, skin | Negative | Skin | ND |
| 7 | <1 | Skin† | Positive | Skin,† mesentery | Positive (mesentery) |
| 8 | <1 | Bone† | Positive | Bone† | Positive |
| 9 | <1 | Skin | Positive | Retroperitoneal fibrosis | Positive |
| 10 | ND | CNS† | Positive | CNS,† bone | Positive‡ |
| 11 | ND | Skin (2) | Positive | None | — |
| 12 | 14 | Skin (3†) | Positive | Pleura, skin (3†), heart | Positive (pleura) |
| 13 | 22 | Bone | ND | Retroperitoneal fibrosis | ND |
| 14 | 11 | Bone | ND | Retroperitoneal fibrosis | ND |
| 15 | 2 | Skin (2), bone (2†), liver (2), lymph node | Positive (lymph node) | Bone† | ND |
| 16 | 18 | Bone (2† + 1), skin (2†) | Positive (bone) | Skin (1† + 1), bone (3†), retroperotineal fibrosis | Positive (skin) |
| 17 | 20 | Lung, mesentery | ND | Retroperotineal fibrosis | Negative |
| 18 | 2 | CNS | ND | Heart, lung | Positive |
| 19 | 20 | Skin (3), liver, bone | ND | None | — |
| 20 | 22 | Bone (3), skin (4) | Positive (skin) | None | — |
| 21 | 13 | Bone† | ND | Bone (1† + 1) | ND |
| 22 | 4 | Skin (3) | ND | Retroperitoneal fibrosis | ND |
| 23 | 3 | Skin (4) | Positive‡ | Bone | Positive |
Numbers in parentheses are number of biopsy samples.
The sample contained 20% histiocytes, and DNA obtained was analyzed only with pyrosequencing because it could not be amplified for other methods.
Presence of both LCH and ECD lesions in the same biopsy.
Determined by a high sensitivity test (PNAClamp BRAF Mutation Detection Kit, Eurogentec, Seraing, Belgium) or by multiplex picodroplet digital polymerase chain reaction.34