Patient, disease and ocular structure, vision, and MRI findings for all patients with orbital histiocytosis (both nonisolated and isolated)
| Variable . | Orbit-involving multisystemic (n = 24) . | Isolated orbit (n = 9) . | P value∗ . | Isolated orbit (n = 9) . | |
|---|---|---|---|---|---|
| Non-KRAS (n = 3) . | KRAS (n = 6) . | ||||
| Age, y | 56.1 (19.2-75.1) | 51.9 (30.1-70.9) | 56.3 | 49.5 | |
| Median (range) | 56.1 (19.2-75.1) | 51.9 (30.1-70.9) | 56.3 | 49.5 | |
| Sex | 14 (58%)/10 (42%) | 6 (66%)/3 (33%) | 3 (100%) | 3 (50%)/3 (50%) | |
| Male (%)/female (%) | 14 (58%)/10 (42%) | 6 (66%)/3 (33%) | 3 (100%) | 3 (50%)/3 (50%) | |
| Disease subtype | |||||
| LCH | 0 | 2 (22%) | 2 (67%) | 0 | |
| ECD | 10 (42%) | 0 | .0003 | 0 | 0 |
| RDD | 7 (29%) | 0 | 0 | 0 | |
| Xanthogranuloma | 1 (4%) | 7 (78%) | .0001 | 1 (33%) | 6 (100%) |
| ALK-positive | 1 (4%) | 0 | 0 | 0 | |
| Mixed histiocytosis | 5 (21%) | 0 | 0 | 0 | |
| Mutational status | |||||
| BRAF V600E | 8 (33%) | 2 (22%) | 2 (67%) | 0 | |
| BRAF p.M484_P490delinsIH | 1 (4%) | 0 | 0 | 0 | |
| MAP2K1/2 | 4 (17%) | 0 | 0 | 0 | |
| KRAS | 2 (8%) | 6 (67%) | .0002 | 0 | 6 (100%) |
| Other† | 3 (13%) | 0 | 0 | 0 | |
| None identified | 6 (25%) | 1 (11%) | 1 (33%) | 0 | |
| Multisystem sites | |||||
| Neurologic‡ | 6 (25%) | 0 | 0 | 0 | |
| Brain parenchyma§ | 11 (46%) | 0 | 0 | 0 | |
| Bone | 19 (79%) | 0 | 0 | 0 | |
| Cardiovascular | 6 (25%) | 0 | 0 | 0 | |
| Pulmonary | 2 (8%) | 0 | 0 | 0 | |
| Retroperitoneum | 7 (30%) | 0 | 0 | 0 | |
| Abdomen | 5 (21%) | 0 | 0 | 0 | |
| Skin | 9 (38%) | 0 | 0 | 0 | |
| Lymph nodes | 6 (25%) | 0 | 0 | 0 | |
| Other ophthalmic sites|| | |||||
| Anterior segment | 1 episcl nodule | 1 conj infil | 0 | 1 conj infil | |
| Posterior segment | 2 choroid infil | 0 | 0 | 0 | |
| Neuroophthalmic | 4 cranial neuro | 0 | 0 | 0 | |
| Eyelid | 1 xanthelasma | 2 xanthelasma | 0 | 2 xanthelasma | |
| Visual symptoms|| | |||||
| Any symptom | 9 (50%) | 9 (100%) | .01 | ||
| Blurry vision | 6 (33%) | 3 (33%) | 0 | 3 (50%) | |
| Floaters | 1 (5%) | 1 (11%) | 0 | 1 (33%) | |
| Pain | 4 (22%) | 3 (33%) | 1 (33%) | 2 (33%) | |
| Photopsia | 1 (5%) | 0 | 0 | 0 | |
| Erythema/injections | 1 (5%) | 0 | 0 | 0 | |
| Diplopia | 3 (17%) | 2 (22%) | 1 (33%) | 1 (17%) | |
| Periorbital swelling | 2 (11%) | 6 (55%) | .006 | 1 (33%) | 5 (83%) |
| Metamorphopsia | 0 | 0 | 0 | 0 | |
| BL BC Snellen vision¶ | |||||
| >20/30 | 35 (97%) | 17 (94%) | 3 (100%) | 5 (83%) | |
| <20/200 | 1 (3%) | 1 (6%) | 0 | 1 (17%) | |
| MRI features | |||||
| Involvement adjacent cavity# | 12 (50%) | 3 (33%) | 2 (67%) | 1 (17%) | |
| Lacrimal gland involvement | 5 (21%) | 6 (55%) | .03 | 2 (67%) | 5 (83%) |
| Extraocular muscle involvement | 10 (42%) | 6 (55%) | 1 (33%) | 5 (83%) | |
| Intraconal disease | 10 (42%) | 0 | .03 | 0 (0%) | 0 (0%) |
| Unilateral | 10 (42%) | 8 (88%) | .02 | 3 (100%) | 5 (83%) |
| Variable . | Orbit-involving multisystemic (n = 24) . | Isolated orbit (n = 9) . | P value∗ . | Isolated orbit (n = 9) . | |
|---|---|---|---|---|---|
| Non-KRAS (n = 3) . | KRAS (n = 6) . | ||||
| Age, y | 56.1 (19.2-75.1) | 51.9 (30.1-70.9) | 56.3 | 49.5 | |
| Median (range) | 56.1 (19.2-75.1) | 51.9 (30.1-70.9) | 56.3 | 49.5 | |
| Sex | 14 (58%)/10 (42%) | 6 (66%)/3 (33%) | 3 (100%) | 3 (50%)/3 (50%) | |
| Male (%)/female (%) | 14 (58%)/10 (42%) | 6 (66%)/3 (33%) | 3 (100%) | 3 (50%)/3 (50%) | |
| Disease subtype | |||||
| LCH | 0 | 2 (22%) | 2 (67%) | 0 | |
| ECD | 10 (42%) | 0 | .0003 | 0 | 0 |
| RDD | 7 (29%) | 0 | 0 | 0 | |
| Xanthogranuloma | 1 (4%) | 7 (78%) | .0001 | 1 (33%) | 6 (100%) |
| ALK-positive | 1 (4%) | 0 | 0 | 0 | |
| Mixed histiocytosis | 5 (21%) | 0 | 0 | 0 | |
| Mutational status | |||||
| BRAF V600E | 8 (33%) | 2 (22%) | 2 (67%) | 0 | |
| BRAF p.M484_P490delinsIH | 1 (4%) | 0 | 0 | 0 | |
| MAP2K1/2 | 4 (17%) | 0 | 0 | 0 | |
| KRAS | 2 (8%) | 6 (67%) | .0002 | 0 | 6 (100%) |
| Other† | 3 (13%) | 0 | 0 | 0 | |
| None identified | 6 (25%) | 1 (11%) | 1 (33%) | 0 | |
| Multisystem sites | |||||
| Neurologic‡ | 6 (25%) | 0 | 0 | 0 | |
| Brain parenchyma§ | 11 (46%) | 0 | 0 | 0 | |
| Bone | 19 (79%) | 0 | 0 | 0 | |
| Cardiovascular | 6 (25%) | 0 | 0 | 0 | |
| Pulmonary | 2 (8%) | 0 | 0 | 0 | |
| Retroperitoneum | 7 (30%) | 0 | 0 | 0 | |
| Abdomen | 5 (21%) | 0 | 0 | 0 | |
| Skin | 9 (38%) | 0 | 0 | 0 | |
| Lymph nodes | 6 (25%) | 0 | 0 | 0 | |
| Other ophthalmic sites|| | |||||
| Anterior segment | 1 episcl nodule | 1 conj infil | 0 | 1 conj infil | |
| Posterior segment | 2 choroid infil | 0 | 0 | 0 | |
| Neuroophthalmic | 4 cranial neuro | 0 | 0 | 0 | |
| Eyelid | 1 xanthelasma | 2 xanthelasma | 0 | 2 xanthelasma | |
| Visual symptoms|| | |||||
| Any symptom | 9 (50%) | 9 (100%) | .01 | ||
| Blurry vision | 6 (33%) | 3 (33%) | 0 | 3 (50%) | |
| Floaters | 1 (5%) | 1 (11%) | 0 | 1 (33%) | |
| Pain | 4 (22%) | 3 (33%) | 1 (33%) | 2 (33%) | |
| Photopsia | 1 (5%) | 0 | 0 | 0 | |
| Erythema/injections | 1 (5%) | 0 | 0 | 0 | |
| Diplopia | 3 (17%) | 2 (22%) | 1 (33%) | 1 (17%) | |
| Periorbital swelling | 2 (11%) | 6 (55%) | .006 | 1 (33%) | 5 (83%) |
| Metamorphopsia | 0 | 0 | 0 | 0 | |
| BL BC Snellen vision¶ | |||||
| >20/30 | 35 (97%) | 17 (94%) | 3 (100%) | 5 (83%) | |
| <20/200 | 1 (3%) | 1 (6%) | 0 | 1 (17%) | |
| MRI features | |||||
| Involvement adjacent cavity# | 12 (50%) | 3 (33%) | 2 (67%) | 1 (17%) | |
| Lacrimal gland involvement | 5 (21%) | 6 (55%) | .03 | 2 (67%) | 5 (83%) |
| Extraocular muscle involvement | 10 (42%) | 6 (55%) | 1 (33%) | 5 (83%) | |
| Intraconal disease | 10 (42%) | 0 | .03 | 0 (0%) | 0 (0%) |
| Unilateral | 10 (42%) | 8 (88%) | .02 | 3 (100%) | 5 (83%) |
Bold values indicate significance. ALK, anaplastic lymphoma kinase; ARAF, serine/threonine-protein kinase A-Raf; BL BC, bilateral best corrected; Conj infil, conjunctival infiltrate; DI, diabetes inspidus; Episcl, episcleral.
Two-tailed Fisher exact test.
MAP3K6, KIF5B-ALK, and ARAF.
Neurologic = dura, orbit, DI, neuroendocrinopathy, spinal cord, and leptomeninges.
The brain parenchyma includes the cerebrum, cerebellum, and brain stem.
Available in 27 patients (18 nonisolated and 9 isolated).
Vision available in 54 eyes.
Adjacent cavity refers to the involvement of the cranial, nasal, or sinus cavity.