Table 1.
Distinctive features and common characteristics of ACT in children and adults.
| Children ACT | Adult ACC | References | |
|---|---|---|---|
| Peak age at diagnosis | 3–4 years | 40–50 years; peak extending into the seventh decade | (10, 11, 26) |
| Clinical presentation | Most often virilization; may be associated with Cushing’s syndrome | Cushing’s syndrome or hypertension; may be associated with virilization | (10, 11) |
| Prevalence | Worldwide: 0.3 cases/million/year; southern Brazil: 3.4–4.2 cases/million/year | 0.7–2/million/year for ACC | (10, 11) |
| Most common genomic alterations | 11p15 LOH; 9q34 gain; 4q34 loss | Complex pattern | (46, 70–74, 86–92) |
| Genetic syndromes | |||
| Overall LFS | >50% | Sporadic germline TP53 mutations | (26, 29, 30) |
| Endemic germline TP53 R337H (Brazil) | >93% | <20% | (10) |
| Beckwith-Wiedemann syndrome | Yes | Uncommon | (17, 47) |
| FAP | Uncommon | Yes | (47, 48) |
| MEN1 | Uncommon | Yes | (47, 49) |
| Lynch syndrome | Uncommon | Yes | (47, 50) |
| NF1 | Uncommon | Yes | (47, 51) |
| Prognostic relevance of | |||
| Pathological (Weiss) score | Low | High | (13–15) |
| Ki-67 index | Unknown | High | (11) |
| Prognostic relevance of | |||
| TP53 mutations | No (germline) | Yes (somatic) | (26, 29, 30) |
| IGF2 overexpression | No | Yes | (18–22) |
| NOV down-regulation | No | Yes | (19, 52) |
| SF-1 overexpression | No | Yes | (31, 78, 81, 82) |
| HLA class II down-regulation | Possible | No | (19, 22) |
| DLGAP5-PINK1 expression | No | Yes | (54, 56) |
| BUB1B-PINK1 expression | No | Yes | (54, 56) |
| Molecular pathways involved | |||
| IGF2 | Yes | Yes | (18–22) |
| p53/Rb | Yes (TP53 mutations) | Yes (TP53/CDKN2A/RB1 mutations) | (26, 57, 66, 85) |
| Beta-catenin | Yes (CTNNB1 mutations) | Yes (CTNNB1/ZNRF3 mutations) | (57, 66, 85) |
| Chromatin remodeling | Yes (ATRX mutations) | Yes (MEN1/DAXX/ATRX/MED12/TERT mutations) | (66, 85) |