Table 1 Clinical features, laboratory findings including next-generation sequencing results, and outcome of patients with Rosai–Dorfman disease
From: Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai–Dorfman disease
Patient no. | Age a (years) | Sex | B-symptoms | LAD | HSM | Nodal | Extranodal | Stage | WBC (× 10 9 /l) | HGB (g/dl) | PLT (K/μl) | LDH (IU/l) | B2M (mg/l) | Mutations detected by NGS | p-ERK IHC | Therapy | FU (m) | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 4 | F | No | Yes | No | Cervical | Orbital | Multifocal | 7.5 | 12.1 | 380 | 591 | NA | KRAS c.351 A>T p.K117N | N | Multiple including cladribine | 141 | CR |
2 | 32 | F | No | No | No | No | Soft tissue of trunk | Unifocal | 6 | 12.7 | 257 | 333 | 1.6 | None | N | Resection, radiation | 142 | CR |
3 | 34 | F | NA | NA | NA | No | Soft tissue of trunk | NA | NA | NA | NA | NA | NA | KRAS c.64C>A p.Q22K | N | NA | NA | NA |
4 | 7 | F | No | Yes | No | Multi-compartment | Paranasal sinuses, lung, bone | Multifocal | 5.6 | 11.5 | 352 | 403 | 1.9 | MAP2K1, c.371C>G p.P124R | P | Multiple including radiation and cladribine | 352 | CR |
CDH1, c.211C>T p.L71F | ||||||||||||||||||
5 | 21 | F | No | No | No | No | Breast | Unifocal | 3.8 | 11.9 | 287 | 388 | NA | None | N | Resection | 16 | PD |
6 | 82 | M | Yes | Yes | Yes | Inguinal | No | Unifocal | NA | NA | NA | NA | NA | None | NA | NA | NA | NA |
7 | 53 | M | No | No | No | No | Base of skull, orbital | Multifocal | 7.1 | 15.8 | 250 | 424 | NA | KRAS 35G>A p.G12D | N | Resection | 7 | CR |
8 | 68 | M | No | Yes | No | No | Extranodal soft tissueb | Unifocal | 18.3 | 12.5 | 283 | 398 | NA | None | N | Resection | 54 | CR |
9 | 53 | F | NA | NA | NA | No | Breast | NA | NA | NA | NA | NA | NA | None | NA | NA | NA | NA |
10 | 64 | M | No | No | No | No | Bone of upper extremity, nasopharynx, paranasal sinuses | Multifocal | 7.3 | 13.9 | 185 | 443 | 2.4 | None | N | Multiple including resection, radiation & cladribine | 94 | PD |
11 | 3 | M | NA | Yes | NA | Cervical | No | NA | NA | NA | NA | NA | NA | MAP2K1 c.157 T>G p.F53V | P | NA | NA | NA |
12 | 64 | M | No | Yes | NA | Multi-compartment | Nasopharynx | Multifocal | 2.4 | 11.9 | 74 | 372 | NA | MAP2K1 c.383G>A p.G128D | P | Resection, radiation, Cladribine | 74 | PD |
13 | 10 | F | No | Yes | No | No | Base of skull, adenoids, nasopharynx | Multifocal | 16.3 | 15.1 | 272 | NA | NA | KRAS c.436G>A p.A146T | N | Resection | 26 | CR |
14 | 35 | F | No | Yes | No | No | Soft tissue of lower extremity | Multifocal | NA | NA | NA | NA | NA | None | N | NA | NA | NA |
15 | 61 | F | NA | NA | NA | No | Soft tissue of trunk | NA | NA | NA | NA | NA | NA | None | N | NA | NA | NA |
16 | 53 | F | No | No | No | No | Breast | Unifocal | 9 | 11.6 | 288 | 520 | 2 | None | N | Resection | 154 | CR |
17 | 43 | F | NA | NA | NA | No | Soft tissue of trunk | Unifocal | NA | NA | NA | NA | NA | None | N | NA | NA | NA |
18 | 36 | M | NA | NA | NA | No | Soft tissue of upper extremity | NA | NA | NA | NA | NA | NA | None | N | NA | NA | NA |
19 | 4 | F | Yes | Yes | NA | Multi-compartment | No | Multifocal | NA | NA | NA | NA | NA | None | N | NA | NA | NA |
20 | 63 | F | NA | Yes | NA | Cervical | No | Unifocal | NA | NA | NA | NA | NA | None | N | NA | NA | NA |
21 | 72 | M | NA | Yes | NA | Cervical | No | Unifocal | NA | NA | NA | NA | NA | None | N | NA | NA | NA |
