Table 4 Characteristics and rare genetic alterations of affected members from the other FIPA families.
Index case number | Sex (F/M)/ Age at diagnosis (yrs) | Adenoma type/size (mm) | Treatment modality(s) | Follow-up period (months) | Latest status (remaining adenoma size, mm) | Confirmed genetic variant(s) |
|---|---|---|---|---|---|---|
(1) Index Relative | F/23 Sister/20 | PRL-secreting/9 PRL-secreting/9 | DA DA | 2 24 | Controlled by CAB Controlled by CAB (4 mm) | NR5A1(SF1) PKD1 |
(2) Index Relative | M/22 Mother/43 | GH-secreting/15 GH-secreting/20 | 3TSS + RT + Medical 3TSS + RT + Medical | 192 178 | Controlled with combination of SRL + DA + PEGV (no rest tissue) Controlled with combination of SRL + DA Thyroid carcinoma Deceased from Covid-19 infection | TINF2 ATP2B3 |
(3) Index Relative | M/33 Sister/35 | GH-secreting/14 GH-secreting/10 | TSS TSS | 120 132 | Postoperative remission (no rest tissue) Postoperative remission (no rest tissue) | RUNX2 |
(4) Index Relative | M/59 Daughter/41 | PRL-secreting/22 PRL-secreting/15 | DA DA | 90 24 | Remission since 62 months (no rest tissue) Controlled by CAB (10 mm) | LGALS3 DRD4 |
(5) Index Relative | F/27 Brother/29 | PRL-secreting/6 PRL-secreting/37 | DA DA | 48 36 | She has been breastfeeding her second baby for 12 months without any problems. Lost for follow-up. | SYTL3 |
(8) Index Relative | F/38 F-Cousin/63 | GH-secreting/18 GH-secreting/15 | TSS + SRL TSS | 108 144 | Drug-free remission for 12 months Postoperative remission (no tumor) | BRAF |
(9) Index Relative | M/51 Daughter | PRL-secreting/15 PRL-secreting/15 | DA DA | 84 48 | Controlled by DA (2 mm) Controlled by DA (6 mm) | RUNX2 |
(10) Index Relative | M/32 Father/45 | GH-secreting/6 GH-secreting/18 | Medical (DA, SRL) TSS | 60 228 | Controlled with SRL (no tumor) Postoperative blindness, hypopituitarism, Thyroid carcinoma Deceased from Covid-19 infection | APC |
(11) Index Relative | F/47 F- Cousin/40 | GH-secreting/12 PRL-secreting/11 | Medical (SRL) Medical (DA) | 12 72 | Under control with SRL; DA was discontinued at menopause | RARB SYTL3 |
(15) Index Relative | F/42 Uncle/70 | ACTH-secreting/12 NFA*/NA | TSS TCS | 120 NA | Postoperative remission (no tumor) Deceased | RARB |
(16) Index Relative | M/60 M-Cousin/49 | PRL-secreting/45 GH-secreting/25 | DA TSS + RT + Medical | 96 60 | Under control with DA (10 mm) Under control with DA + SRL (17 mm) | DRD3 |
(18) Index Relative | F/19 M-Cousin/37 | PRL-secreting/18 GH-secreting/14 | DA TSS | 252 108 | Drug-free remission for 204 months (no tumor) Postoperative remission (no tumor) | NPR2 |
(19) Index Relative | M/36 Brother/55 | ACTH-secreting/6 Gonadotrophinoma/40 | TSS TSS + RT | 132 84 | Postoperative remission (no tumor) Central hypothyroidism (20 mm stable residual adenoma) | PTTG1 |
