Table 3.
Immunostaining of tissue biopsies (left) for CD68, S100, CD1a and serologic values (right) of eosinophils, IgG, IgG4, CRP, and ANA at time of RDD diagnosis.
| Immunostaining of tissue biopsies | Serologic findings at time of RDD Diagnosis | Next-generation sequencing | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Case | CD68 | S100 | CD1a | PHGG | IgG (6.7–15.2 g/L) |
IgG4 (0.052–1.25 g/L) |
CRP (<3.1 mg/L) |
Autoantibodies | |
| 1 | ND | + | - | No | 14.1 | 0.3 | 41.9 | Negative | ND |
| 2 | + | + | - | Yes | 24.0 | 5.7 | 23.0 | Negative | ND |
| 3 | + | + | - | Yes | 25.2 | 2.36 | 51.8 | ANA positive | Tier I: none Tier II: none Tier III: MAP2K1:c.361T>A, p.C121S (VAF 5.8%) |
| 4 | + | + | - | Yes | 14.4 | 1.12 | 6.3 | Negative | Tier I: none Tier II: none Tier III: none |
| 5 | + | + | - | No | 12.5 | 0.63 | 16.7 | Negative | ND |
| 6 | + | + | - | No | 7.9 | 0.066 | 4.3 | ND | Tier I: none Tier II: none Tier III: MAP2K1:c607G>A, p.E203K (VAF 3.5%) |
| 7 | + | + | - | Yes | 19.3 | 2.05 | 45.0 | ND | ND |
| 8 | + | + | - | No | 12.5 | 0.434 | 7.4 | Negative | Tier I: KRAS:c.351A>T, p.K117N (VAF 12%) Tier II: none Tier III: FUBP1:c1327A>G, p.I443V (VAF 51%); ERBB4:c2845G>A, p.V949I (VAF 49%) |
| 9 | + | + | - | No | 12.8 | 0.885 | 0.9 | Negative | Tier I: none Tier II: none Tier III: MAP2K1:c364A>G, p.N122D (VAF 2.0%); MAP2K1:c362G>C, p.C121S (VAF 3.1%) |
| 10 | + | + | - | Yes | 16.4 | 0.354 | 3.7 | RF positive, ANA neg | ND |
| 11 | + | + | - | No | 16.7 | 1.905 | 8.0 | Negative | ND |
| 12 | + | + | - | No | 6.2 | 0.322 | 62.9 | Negative | Tier I: none Tier II: none Tier III: none |
| 13 | + | + | - | No | 11.7 | 2.1 | 37.8 | Negative | ND |
| 14 | + | + | - | No | 11.5 | ND | 8.6 | ND | ND |
| 15 | + | + | - | Yes | 23.0 | 1.562 | 75.0 | ANA positive | Tier I: none Tier II: none Tier III: MAP2K1:c159T>A, p.F53L (VAF 2.9%) |
ANA: antinuclear antibody; ND: not done; PHGG: polyclonal hypergammaglobulinemia on serum protein electrophoresis; VAF: variant allele frequency