Table 1.
Clinical and Selected Family Findings for 29 Patients With Carney Complex (CNC)
| Patient/Reference | Sex/Age at First Manifestation of CNC/Age at Diagnosis of CNC | Cushing Syndrome (Age, y) | Components of CNC/Other Conditions | Family Identification/No. of Generations Affected | Germline PRKAR1A Mutation |
|---|---|---|---|---|---|
| 1/10 | F/4 y/65 y | Classic (17) Remitted spontaneously (24) Subclinical (65) |
Lentiginosis/pilonidal cyst, pancreatic carcinoma | A/2 | Not tested |
| 2/10 | M/4 y/44 y (at autopsy) | Classic (17) Persistent (44) |
Lentiginosis/bilateral simple mastectomy (gynecomastia), pilonidal cyst, inguinal hernia (prolapsed omental fat) | A | Not tested |
| 3/11 | F/12 y/37 y | Classic (12) | Lentiginosis, nasal schwannoma/depression, Graves disease, cerebral ischemic event, bilateral ovarian carcinoma | A | None |
| 4 | F/2 y/48 y | Classic (3) | Multiple left atrial myxomas,a blue nevus/osteopenia, 1-cm cystic pancreatic mass, 1.7-cm hypodense splenic mass | B/4 | c496C>T/p.Gln166X |
| 5 | M/Birth/4 y | Classic (4) | Facial and labial lentiginosis, bilateral punctate testicular calcifications, cutaneous myxomas, osteopenia with multiple fractures | B | c496C>T/p.Gln166X |
| 6 | F/3 y/14 y | Classic (4, left adrenalectomy) Recurrent classic (14, right adrenalectomy) |
Facial and mucosal lentiginosis, blue nevus | B | c496C>T/p.Gln166X |
| 7 | F/12 y/12 y | Classic (14) | Lentiginosis, multichamber cardiac myxoma, external ear canal myxoma | B | c496C>T/p.Gln166X |
| 8 | M/2 y/2 y (family screening for CNC) | Classic (10) | Lentiginosis, bilateral testicular calcifications, pituitary tumor | B | c496C>T/p.Gln166X |
| 9 | F/3 y/42 y | Classic (cyclic) (2) | Lentiginosis, left atrial myxoma/Ebstein anomaly | C/1 | Not tested |
| 10/12 | F/Birth/32 y | Classic (34) | Lentiginosis, multichamber cardiac myxoma, cutaneous and mammary myxomas, pituitary adenoma/thyroid adenoma | D/3 | c.340delG/p.Val113fsX15 |
| 11 | F/<6 y/43 y | Classic (6) | Lentiginosis, blue nevus, multichamber cardiac myxoma, cutaneous myxomas/bilateral multifocal follicular thyroid carcinoma with lymph node metastasis, hepatic cirrhosis, nephrolithiasis (left nephrectomy), type 2 diabetes mellitus | E/2 | c.712insAA/p.SER238fsX3 |
| 12 | F/Birth/18 y | Classic (15) | Lentiginosis, right atrial myxoma, bilateral mammary myxomas, pituitary adenoma | F/3 | Declined testing |
| 13/13 | F/12 y/28 y | Classic (14, left adrenalectomy; 17, right adrenalectomy) | Multichamber cardiac myxoma, psammomatous melanotic schwannoma | G/2 | C.286C>T/p.Arg96X |
| 14/13 | F/Birth/32 y | Classic (8) | Lentiginosis, multichamber cardiac myxoma (hemiplegia due to myxoma embolus) | G | C.286C>T/p.Arg96X |
| 15 | F/Childhood/46 y | Classic (46) | Lentiginosis, right atrial myxoma, cutaneous and bilateral mammary myxomas | H/2 | IVS4+1G>C |
| 16 | F/Birth/11 y | Classic (11) | Lentiginosis, mitral valve myxoma, bilateral mammary myxomas | I/1 | p.arg228term |
| 17 | F/2 y/29 y | Nonfunctioning adrenal mass (2, right adrenalectomy) Classic (27, left adrenalectomy) |
Short stature (142 cm), bilateral mammary myxoid fibroadenomas, lentiginosis, elevated insulinlike growth factor 1/developmental delay, epilepsy, mesial temporal sclerosis, osteopenia, stress fractures, necrotizing pneumonia (right upper lobectomy) | J/1 | Gene deleted Partial duplication of chromosome 2 |
| 18 | M/Birth/37 y | Subclinical (45) | Lentiginosis, unilateral LCCSCT, psammomatous melanotic schwannoma | K/1 | c.348+1g>c |
| 19 | F/6 y/26 y | Subclinical (57) | Lentiginosis, mammary myxoma, blue nevus/depression | D | c.340delG/p.Val113fsX15 |
| 20/14 | M/6 mo/35 y | Subclinical (46) | Lentiginosis, multichamber cardiac myxoma (hemiplegia due to myxoma embolus), bilateral testicular calcifications, cutaneous myxoma, pituitary microadenoma | L/1 | Declined testing |
| 21 | M/Childhood/15 y | Subclinical (22) | Lentiginosis, multiple left atrial myxomas (cerebral embolus) bilateral testicular calcifications | H | Not tested Mother (patient 15) had mutation |
| 22 | F/8 y/19 y | Subclinical (19) | Lentiginosis, multichamber cardiac myxoma with residual hemiplegia cutaneous and mammary myxomas | M/1 | Not tested |
| 23 | M/Birth/29 y | Subclinical (29) | Lentiginosis, LCCSCT/splenic hemangiomas | N/1 | Not tested Cytogenic analysis showed 2 abnormal metaphases at chromosome 17q25 |
| 24 | M/12 y/40 y | Possible (41) | Lentiginosis, multichamber cardiac myxoma, cutaneous myxoma, bilateral testicular calcifications/1.5-cm liver mass, nephrolithiasis | O/2 | c.891G>A |
| 25 | F/34 y/49 y | Possible (34) | Pituitary adenoma, recurrent left atrial myxoma, mammary myxoma/multinodular goiter, pilonidal cyst, left superior vena cava entry into coronary sinus | Not tested | Not tested |
| 26 | F/4 y/18 y | Possible (22) | Lentiginosis, café au lait spot, cutaneous “dermatofibromas” | Q/1 | C992–993delGA 2-bp deletion in exon 10 |
| 27 | F/3 y/34 y (autopsy) | Possible (34) | Lentiginosis, multichamber cardiac myxoma, cutaneous myxomas, blue nevus (surgical), right atrial myxoma, bilateral adrenal vacuolated cell hyperplasia with micronodules and a unilateral eosinophilic cell macronodule with lipochrome (at autopsy) | R/2 | Not tested |
| 28 | F/Unknown/33 y (autopsy) | Possible (33) | Lentiginosis and mammary myxomas (surgical), left atrial myxoma, PPNAD, pituitary Crooke cells, osteopenia (at autopsy) | S/1 | Not tested |
| 29 | M/Birth/37 y | Possible (42) | Lentiginosis, bilateral LCCSCT, PPNAD in rete testis, spermatic cord ectopic adrenal rest with PPNAD-type features, left atrial myxoma, pituitary adenoma/submandibular pleomorphic adenoma, inflammatory bowel disease (colectomy), depression | T/1 | Not tested |
Abbreviations: LCCSCT, large-cell calcifying Sertoli cell tumor; PPNAD, primary pigmented nodular adrenocortical disease.
a
Cardiac myxoma is usually a single left atrial tumor affecting middle-aged patients; 75% of patients are women.