Predictive immunotherapy biomarkers among patients with histiocytic neoplasms
| Patient ID . | Organ involvement . | Oncogenic mutations . | PD-L1 percentile (vs PD-L1+ cohort) . | MSI status (predicted) . | Treatment and outcomes* . |
|---|---|---|---|---|---|
| ECD-1 | Pituitary, bone, skin | BRAF p.V600E | 14 | MSS† | Pituitary hormone replacement (SD) |
| ECD-2 | Subcutis, bone | ND | 14 | MSS | Cladribine (PR), hydroxyurea (PR) |
| ECD-3 | CNS, orbit | BRAF p.V600E; PTCH1 copy loss | 15 | MSS† | Vemurafenib (CR) |
| RDD-1 | Lymph nodes | PTEN copy loss | 11 | MSS† | Prednisone (PR), cladribine (PR) |
| RDD-2 | Bone, lymph nodes, skin | ND | 41 | MSS† | Prednisone (PR), methotrexate (PR) |
| RDD-3 | Orbit, bone, skin | SMARCA4 p.K953 frameshift loss | 10 | UND‡ | Cladribine (PD), etoposide and vinblastine (CR), hydroxyurea (NR), radiation (PR), clofarabine (PR) |
| RDD-4 | Lymph nodes | ND | 43 | MSS | Observation (SD) |
| RDD-5 | Subcutis, bone, lymph node | ND | 43 | MSS | Observation (SD) |
| RDD-6 | Subcutis | ND | 24 | MSS | Surgical excision (PD) |
| RDD-7 | Subcutis, soft tissue | ND | 43 | MSS† | Observation (SD) |
| RDD-8 | Testis | MAP2K1 p.F53L | 26 | MSS | Observation (PD) |
| RDD-9 | Testis | ND | 13 | UND‡ | Prednisone (PR), cladribine (CR) |
| RDD-10 | Subcutis | KRAS p.K117N | 1 | MSS† | Surgical excision (SD) |
| LCH-1 | Bone, skin | BRAF p.V600E | 21 | MSS† | Surgical excision (CR), cryoablation (CR), surgical excision (CR) |
| LCH-2 | Lymph nodes | ND | 26 | MSS† | Cladribine (CR) |
| HS-1 | Nasal cavity | KRAS p.Q61R; PTCH1 p.Q118 stop gain | 5 | MSS† | Surgical excision, adjuvant radiation (CR) |
| Patient ID . | Organ involvement . | Oncogenic mutations . | PD-L1 percentile (vs PD-L1+ cohort) . | MSI status (predicted) . | Treatment and outcomes* . |
|---|---|---|---|---|---|
| ECD-1 | Pituitary, bone, skin | BRAF p.V600E | 14 | MSS† | Pituitary hormone replacement (SD) |
| ECD-2 | Subcutis, bone | ND | 14 | MSS | Cladribine (PR), hydroxyurea (PR) |
| ECD-3 | CNS, orbit | BRAF p.V600E; PTCH1 copy loss | 15 | MSS† | Vemurafenib (CR) |
| RDD-1 | Lymph nodes | PTEN copy loss | 11 | MSS† | Prednisone (PR), cladribine (PR) |
| RDD-2 | Bone, lymph nodes, skin | ND | 41 | MSS† | Prednisone (PR), methotrexate (PR) |
| RDD-3 | Orbit, bone, skin | SMARCA4 p.K953 frameshift loss | 10 | UND‡ | Cladribine (PD), etoposide and vinblastine (CR), hydroxyurea (NR), radiation (PR), clofarabine (PR) |
| RDD-4 | Lymph nodes | ND | 43 | MSS | Observation (SD) |
| RDD-5 | Subcutis, bone, lymph node | ND | 43 | MSS | Observation (SD) |
| RDD-6 | Subcutis | ND | 24 | MSS | Surgical excision (PD) |
| RDD-7 | Subcutis, soft tissue | ND | 43 | MSS† | Observation (SD) |
| RDD-8 | Testis | MAP2K1 p.F53L | 26 | MSS | Observation (PD) |
| RDD-9 | Testis | ND | 13 | UND‡ | Prednisone (PR), cladribine (CR) |
| RDD-10 | Subcutis | KRAS p.K117N | 1 | MSS† | Surgical excision (SD) |
| LCH-1 | Bone, skin | BRAF p.V600E | 21 | MSS† | Surgical excision (CR), cryoablation (CR), surgical excision (CR) |
| LCH-2 | Lymph nodes | ND | 26 | MSS† | Cladribine (CR) |
| HS-1 | Nasal cavity | KRAS p.Q61R; PTCH1 p.Q118 stop gain | 5 | MSS† | Surgical excision, adjuvant radiation (CR) |
CNS, central nervous system; CR, complete remission; HS, histiocytic sarcoma; MSS, microsatellite stable; ND, none detected; NR, no response; PD, progressive disease; PR, partial remission; SD, stable disease.
Based on clinical and fluorodeoxyglucose positron emission tomography–computed tomography criteria.
MSI status reported below clinical reporting threshold of 30% tumor content.
Undetermined (UND) because of the lack of a matched-normal sample.