Table 1.
Characteristics of NRAS- and PIK3CA-mutant ECD patients and those not identified as having BRAF, NRAS, or PIK3CA mutations*
| Age† (y/Gender) | Principal organs involved by histiocytosis | Tissue biopsy site | % Histiocytes in biopsy | BRAF p.V600 | Other genes | Follow up (mo, status at last follow-up) |
|---|---|---|---|---|---|---|
| 67/M | Heart, aorta, RPF, pleura | Peritoneum | 70 | Wild-type | NRAS p. G12D | 43, DoD |
| 56/M | Aorta, RPF, pleura, bone | Pleura | 70 | Wild-type | NRAS p. Q61K | 108, AwD |
| 65/M | Aorta, pleura | Pleura | 40 | Wild-type | NRAS p.Q61R | 26, AwD |
| 32/M | Aorta, paraparesis | Paravertebral | 10 | Wild-type | PIK3CA p.E542K | 100, AwD |
| 32/M | CNS, visual loss, bone | Bone | 10 | Wild-type | PIK3CA p.E545K | Not available |
| 29/M | RPF, bone | Bone | 20 | Wild-type | PIK3CA p.H1047R | 50, AwD |
| 62/M | CNS, aorta, bone, sinus | Perirenal | 30 | p.V600E | PIK3CA p.A1046T | 60, AwD |
| 52/M | DI, bone, RPF | Skin | 60 | p.V600E | PIK3CA p.H1047L | 24, AwD |
| 58/M | Lung, CNS, X, aorta | Skin | 50 | p.V600E | PIK3CA p.H1047L | 15, AwD |
| 42/M | E, bone, aorta, RPF | Orbital | 60 | p.V600E | PIK3CA p.H1047L | 30, AwD |
| 53/M | CNS, bone | Bone | 10 | Wild-type | None detected | 17, AwD |
| 49/M | RPF, DI, sclerosing cholangitis, sinus | Perirenal | 20 | Wild-type | None detected | 48, AwD |
| 56/M | Lung, bone | Bone | 40 | Wild-type | None detected | 44, AwD |
| 81/F | Aorta, X, skin | Skin | 50 | Wild-type | None detected | 52, AwD |
| 70/M | Aorta, RPF, pleura, skin, arthritis | Skin | 30 | Wild-type | None detected | 18, AwD |
| 65/M | Lung, bone | Bone | 40 | Wild-type | None detected | 72, AwD |
| 55/M | Heart, RPF, lung, bone, X | Skin | 70 | Wild-type | None detected | 33, AwD |
| 54/M | Mesenteric | Mesentery | 40 | Wild-type | None detected | 27, AwD |
| 39/M | CNS, E, skin | Skin | 90 | Wild-type | None detected | 134, AwD |
| 42/F | Not available | Bone | 40 | Wild-type | None detected | Not available |
| 30/M | Heart, aorta, paraparesis, liver | Paravertebral | 30 | Wild-type | None detected | 20, AwD |
AwD, alive with disease; CNS, central nervous system; DI, diabetes insipidus; DoD, dead of disease; E, exophthalmos; RPF, retroperitoneal fibrosis; X, xanthelasma.
*
The 42 ECD patients with BRAF p.V600E mutations, but without PIK3CA mutation, are not included in this table. For 17 other BRAFV600E/NRAS–wild-type ECD patients, PIK3CA, KRAS, and AKT1 hotspot mutations were not investigated, because biopsies and tumor DNA samples were exhausted.
†
Age at time of diagnosis.