Table 1.
Individual patient characteristics for 13 Erdheim-Chester disease patients treated with methotrexate (MTX)
| Age at diagnosis/sex | Sites/organs involved | Prior therapies | Treatment | Weekly oral dose of MTX | Duration of MTX (months) | Clinical response | Radiologic response | BRAF V600E mutation | Comments | Dead/alive (age) | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 51/M | Pharynx, bones/joints | None | MTX + prednisone + etanercept/infliximab | 17.5 mg | 15 | PD | PD | ND | Increase in size of the pharyngeal lesion, arthralgia | Alive (58) |
| 2 | 64/F | Bone, bone marrow, lung, liver, spleen, lymph nodes, CVS | None | MTX + Infliximab | 20 mg | 4 | PD | PD | Present (PCR) | Worsening symptoms, splenomegaly and lymphadenopathy | Alive (67) |
| 3 | 39/M | Orbit | None | MTX + prednisone | 25 mg | 3 | PD | PD | ND | Worsening eye symptoms and PET-CT | Dead (41) |
| 4 | 47/F | Bone, CNS, lung, kidney, retroperitoneum | Prednisone | MTX + prednisone | 20 mg | 4 | PD | SD | Present (IHC) | Worsening pleuritis/pericarditis and stable MRI head | Alive (52) |
| 5 | 59/M | Bone, CNS | None | MTX + prednisone | 15 mg | 4 | PD | UNK | ND | Worsening diplopia | UNK |
| 6 | 49/M | Bone, CNS, lung, CVS, kidney, retroperitoneum | Prednisone Cyt | MTX + prednisone | 12.5 mg | 12 | PR | PD | Present (PCR) | Improved abdominal pain for 6 months, MRI worse after that | UNK |
| 7 | 59/F | Bone, CNS, kidney, retroperitoneum | Prednisone | MTX + prednisone | 20 mg | 7 | PD | PD | Present (PCR) | New femoral lesions and bone pain | Alive (62) |
| 8 | 66/F | Orbit, tibia, periaortic area, liver, spleen | None | MTX | UNK | 6 | PD | UNK | ND | Worsening arthralgia | Dead (67) |
| 9 | 57/M | Bone, bone marrow, CVS, kidney, retroperitoneum | Prednisone | MTX + infliximab + prednisone | 15 mg | 3 | PD | SD | Present (PCR) | Worsening symptoms but MRI heart stable | Alive (61) |
| 10 | 49/F | CNS, retroperitoneum | Prednisone | MTX + prednisone | 15 mg | 24+ | PR | SD | Absent (PCR) | Vision improved | Alive (52) |
| 11 | 34/F | Bone, CNS, skin | None | MTX + infliximab | UNK | 25 | SD | SD | Present (IHC) | Worsening dizziness and imaging after 25 months | Alive (37) |
| 12 | 54/M | Bone, CNS, skin, kidney, retroperitoneum | Prednisone | MTX | 15 mg | 1 | PD | PD | Present (urine PCR)a | New skin lesions, worsening vasculitis | Alive (57) |
| 13 | 44/M | Bone, bone marrow, CNS, kidney, retroperitoneum, skin, vas deferens | Tamoxifen Prednisone Azathioprine Cyt | MTX | 7.5 mg | 163+ | PR | SD | ND | Improved vision and paresthesia, stable epidural mass on MRI | Alive (59) |
aUrine-based circulating tumor DNA test.
CNS central nervous system, CR complete remission, CT computed tomography, CVS cardiovascular system, Cyt cyclophosphamide, ECD Erdheim-Chester disease, F female, IHC immunohistochemistry, M male, MTX methotrexate, MRI magnetic resonance imaging, ND not done, NE non-evaluable (due to lack of follow-up visit/imaging), NGS next-generation sequencing, PCR polymerase chain reaction, PD progressive disease, PET-CT positron emission tomography–computed tomography, PR partial remission, SD stable disease, UNK unknown