Table 2.
Patient and histopathological characteristics and results of mutational analysis
| Patient | Sex | Age | Diagnosis | Localization | Origin from nerve/ganglion | Circumscribed, capsule | Pigmentation | Psammoma bodies | Cell type | Schwannian features | Nuclear pleomorphism | S-100 | HMB-45 | Melan-A | Basement membrane staining | GNAQ exon 5 mutation |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 75 | MS | L1–L2 | na | + | 1+ | + | S | Pa | mi | 2+ | 1+ | 1+ | B | – |
| 2 | F | 35 | MS | L1–5 | + | + | 3+ | + | E, S | Pa | mi | 2+ | 1+ | 2+ | B | – |
| 3 | M | 42 | MS | L2 | na | + | 3+ | − | S | – | mi | 2+ | 2+ | 1+ | B | – |
| 4 | na | na | MS | C2 | + | + | 3+ | + | E, S | A, V | mi | 2+ | 2+ | 1+ | P | – |
| 5 | na | na | MS | C1 | na | na | 3+ | + | S | – | mi | 2+ | 1+ | 2+ | P | – |
| 6 | na | na | MS | C4 | na | na | 3+ | + | E, S | – | mi | 2+ | 2+ | 2+ | B | – |
| 7 | M | 35 | MS | Lumbal | + | na | 3+ | + | S | Pa | mi | 2+ | 1+ | 2+ | B | – |
| 8 | F | 23 | MS | Lower arm | na | + | Focal 1+ | +, fat | E | – | mi | 2+ | 1+ | 1+ | P | – |
| 9 | M | 13 | MS | Lower leg | + | + | Focal 1+ | + | E, S | – | mi | 2+ | 1+ | 1+ | P | – |
| 10 | M | 72 | Sw | Vestibular nerve | na | na | 2+ | − | S | Pa | mi | 2+ | neg | neg | P | – |
| 11 | F | 60 | Sw | Th11 | na | na | Focal 1+ | − | S | Pa, V | mi | 2+ | neg | neg | P | – |
| 12 | F | 32 | Sw | Retroperitoneum | na | + | Focal 1+ | − | S | Pa, A | mi | 2+ | neg | neg | P | – |
| 13 | M | 42 | Sw | sacrum | na | + | Focal 1+ | − | S | Pa | mi | 2+ | neg | neg | P | – |
| 14 | na | na | Sw | Intercostal nerve | na | + | 1+ | − | S | Pa, A | mi | 2+ | neg | neg | P | – |
| 15 | M | 49 | Sw | S1 | na | na | Focal 1+ | − | S | Pa, A | mi | 2+ | neg | neg | P | – |
| 16 | F | 74 | Sw | S2 | + | na | Focal 1+ | − | S | Pa | mi | 2+ | neg | neg | P | – |
| 17 | F | 74 | Sw | Groin | na | na | Focal 1+ | − | S | Pa, A | mi | 2+ | neg | neg | P | – |
| 18 | M | 44 | Sw | Sacral | na | + | Focal 1+ | − | S | Pa, A | mi | 2+ | neg | neg | P | – |
| 19 | na | na | Blue nevus | Foot | na | + | 2+ | − | S, O | – | mi | Focal 1+ | 2+ | Focal 1+ | N | c626A>T, pGln209Leu |
| 20 | na | na | IMC | Cauda | na | No, invasion of CNS | 1+ | − | S | – | mi | Focal 1+ | 2+ | 2+ | N | c626A>T, pGln209Leu |
| 21 | na | na | IMC | IM | na | No, invasion of CNS | 3+ | − | E, S | – | mi | Focal 1+ | 2+ | 1+ | N | – |
| 22 | na | na | IMC | IM | na | No, invasion of CNS | 1+ | − | E | – | mi | Focal 1+ | 2+ | 1+ | N | c626A>T, pGln209Leu |
| 23 | na | na | MC | EM | na | na | 3+ | − | E | – | mi | Focal 1+ | 2+ | 1+ | N | c626A>T, pGln209Leu |
| 24 | F | 41 | NOS | L5 | + | na | 3+ | − | E, S | – |
mo sev |
1+ | 1+ | 2+ | B | − |
| 25 | na | na | NOS | CPA | na | na | 3+ | − | S | – | mi | Focal 1+ | 2+ | 1+ | N | c626A>T, pGln209Leu |
na data not available, MS melanotic schwannoma, Sw conventional schwannoma with limited pigment (neuromelanin, lipofuscin), IMC intermediate-grade melanocytoma, MC melanocytoma, NOS lesion not further classified with certainty as melanotic schwannoma or melanocytoma, IM intramedullary, EM extramedullary, CPA cerebellopontine angle, S spindle cell phenotype, E epithelioid cell phenotype, O ovoid, Pa palisading of nuclei, V Verocay bodies, A Antoni A and B pattern, mi mild, mo moderate, sev severe, B biphasic, P pericellular, N nested