Table 1.
Patients with the triad of gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondroma (Carney triad)
| Patient | Id | Sex | Age | Tumours | Other | Reference |
|---|---|---|---|---|---|---|
| CTRS2 | 1 | F | 15 | GIST, PGL | Chest X-ray normal; metastatic GIST; multiple PGLs (mediastinal) | Case 3, Carney et al. [2] and Carney [3] |
| CTR04.01 | 2 | F | 12 | GIST, PGL, PCH | Peripheral blood karyotype is 46,XX,inv(9) (p11:q13); born with complete and partial agenesis of the left and right external ear, respectively; she has had multiple PGLs (neck) and PCHs and recurrent GIST; left adrenocortical adenomas (subclinical Cushing) | Case 1, Carney et al. [2] and Carney [3] |
| CTR05.01 | 3 | F | 17 | GIST, PGL, PCH | Multiple GISTs (one malignant); multiple PCH; one PGL (retroperitoneal) | Sigmund et al. [13] |
| CTRS.5T | 4 | F | 29 | GIST, PGL, PCH | Multiple GIST (metastatic); multiple PCH; one PGL (gastric); left adrenocortical tumour (nonfunctional) | Case 2, Cameron et al. [14] |
| CTRS.6 | 5 | F | 14 | GIST, PGL, PCH | Multiple GIST (metastatic) | |
| CTR06.01 | 6 | F | 18 | GIST, PGL, PCH | Multiple GIST (metastatic); PGL (neck and abdominal); left adrenocortical adenoma | Wintermark et al. [15] |
| CTRS.13 | 7 | F | 26 | GIST, PCH | GIST (malignant); multiple PCH | McLaughlin et al. [16] |
| CTRS.19 | 8 | F | 23 | GIST, PCH | GIST (multiple); multiple PCH | |
| CTRS.21 | 9 | F | 21 | GIST, PGL | GIST (multiple); PGL (cardiac) | Grace et al. [6] |
| CTRS.23 | 10 | F | 25 | GIST, PGL | GIST (metastatic); adrenocortical tumour | |
| CTRS.27 | 11 | F | 26 | GIST, PCH | GIST (multiple, gastric); lymphoma | |
| CTRS.41 | 12 | F | 12 | GIST, PGL | GIST (multiple, metastatic); PGL (para-aortic) | |
| CTRS.42 | 13 | F | 28 | GIST, PGL, PCH | GIST (multiple, metastatic); PGL; adrenocortical adenoma | Carney et al. [4] |
| CTR07.03 | 14 | F | 17 | GIST, PGL, PCH | GIST (multiple, metastatic); PGL; PCH (mutliple) | Carney et al. [4] |
| CTR08.03 | 15 | F | 21 | GIST, PGL, PCH | GIST (multiple, metastatic); PGL; PCH (mutliple) | Convey et al. [17] |
| CTR09.01 | 16 | F | 26 | GIST, PGL, PCH | GIST (multiple, metastatic); PGL (metastatic); PCH (mutliple) | |
| CTR10.01 | 17 | F | 21 | GIST, PGL | GIST (multiple, metastatic); PGL (nonfunctioning, abdominal); adrenocortical adenoma | |
| B177/B178 | 18 | F | 25 | GIST, PGL, PCH | GIST (metastatic), multiple PGLs (mediastinal) and PCHs; right ductal breast cancer at age 50 years | Scopsi et al. [18] |
| CT.1 | 19 | F | 19 | GIST, PGL, PCH* | ||
| CT.2 | 20 | F | 22 | GIST, PCH* | ||
| CT.3 | 21 | F | 21 | GIST, PCH* | ||
| CT.4 | 22 | F | 13 | GIST, PCH* | ||
| CT.6 | 23 | M | 21 | GIST, PCH* | ||
| CT.11 | 24 | F | 11 | GIST, PCH* | ||
| CT.12 | 25 | F | 26 | GIST, PCH* | ||
| CT.13 | 26 | F | 44 | GIST, PCH* | ||
| CT.14 | 27 | F | 19 | GIST, PCH* | ||
| CT.15 | 28 | M | 36 | GIST, PCH* | ||
| CT.16 | 29 | F | 17 | GIST, PCH* | ||
| CT.17 | 30 | F | 16 | GIST, PCH* | ||
| CT.18 | 31 | F | 9 | GIST, PCH* | ||
| CT.19 | 32 | F | 13 | GIST, PCH* | ||
| CT.20 | 33 | F | 7 | GIST, PGL* | ||
| CT.21 | 34 | F | 11 | GIST, PGL* | ||
| CT.22 | 35 | F | 11 | GIST, PCH* | ||
| CT.23 | 36 | F | 19 | GIST, PCH* | ||
| CT.24 | 37 | M | 30 | GIST, PGL* |
GIST, gastrointestinal stromal tumour (initially referred to as gastric leiomyosarcoma); PCH, pulmonary chondroma; PGL, paraganglioma.
*
DNA from samples CT.1 to CT.24 (patients 19 to 37) was obtained from archival material; these patients were included in Carney et al. [4].