Table 1.
Clinical manifestations of CNC in patients that carried PRKAR1A mutations abolishing the normal stop codon
| Patient ID | Age (yr) | Gender | Manifestations (age of first diagnosis) |
Manifestations (age of first diagnosis) |
Mutation |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cardiac myxomas | Breast myxomas | Lentigenosis | Other skin lesions | Acromegaly | Cushing's syndrome | LCCSCT | Thyroid tumors | Ovarian tumors | Schwannomas | cDNA | Protein | |||
| CAR15.02 | 50 | F | + (27) | + (27) | + | + | − | + (32) | + (32) | + (32) | − | c.1076_77delTTins13 | p.Leu359fsPLUS62 | |
| CAR15.04 | 14 | M | − | − | + | + | − | − | + (4) | + (4) | − | c.1076_77delTTins13 | p.Leu359fsPLUS62 | |
| CAR66.03 | 19 | F | + | + | + | + | − | + (13) | − | − | + (19) | c.1055_1058delGACC | p.Arg352fsPLUS57 | |
| CAR540.01 | 63 | M | + (33) | + (33) | + | + | + (41) | − | + (25) | − | − | c1067_1070delAACGins5 | p.Glu356fsPLUS45 | |
| CAR540.11 | 27 | M | − | − | + | + | − | − | + (24) | − | − | c1067_1070delAACGins5 | p.Glu356fsPLUS45 | |
| CAR541.01 | 6 | M | − | − | + | − | − | + | − | − | − | c1142_1145delTCTG | p.Val381fsPLUS58 | |
| CAR541.05 | 26 | M | − | − | + | − | − | − | + | − | − | c1142_1145delTCTG | p.Val381fsPLUS58 | |
The age of diagnosis of the respective tumor is indicated in parentheses (when this information was available). Patients CAR15.02 and CAR66.03 had multiple cardiac myxomas and schwannomas, respectively. F, Female; LCCSCT, large-cell calcifying Sertoli cell tumor; M, male.