CGH abnormalities in CNC tumours
| CGH results | ||||||
|---|---|---|---|---|---|---|
| Case | Kindred | Tumour pathological diagnosis | Locus | Mutation of PRKARIA | Gains | Deletions |
| The first column of the table provides the designated CAR code for each family assigned by the investigators. The second column shows the histological diagnosis of the tumour studied. The third column lists the genetic locus (CNC1 versus CNC2). “Sporadic” indicates a case with no known family history and presumably de novo mutation of the gene responsible for CNC in this subject. The fourth column lists the results of PRKAR1A mutation analysis. The fifth column presents the CGH results. PPNAD=primary pigmented nodular adrenocortical disease. | ||||||
| 1 | CAR01 | Ovarian cyst | CNC1 | c.578delGT | 2p; 2q36; 9q34; 19p;19q | 5p; 6 |
| 2 | CAR01 | Pituitary adenoma | CNC1 | c.578delGT | 1p; 2p; 4qter; 8p; 17; 16p-qter;12q; 19; 20; 22 | 6q; 7q; 11 |
| 3 | CAR03 | PPNAD | CNC2 | – | 20p | 6q22-qter; 10p; 9qter |
| 4 | CAR110 | Facial myxoma | CNC1 | c.769C>T | 2p16–23; 5q (middle) | 11 |
| 5 | CAR110 | Thyroid carcinoma | CNC1 | c.769C>T | 2p | |
| 6 | CAR503.01 | PPNAD | Sporadic | Exon 2IVS-2A>G | 1pter-p (middle); 16qter-q (middle); 19; 20q; 22 | 4cen-qter |
| 7 | CAR515.01 | PPNAD | Sporadic | – | 9q34 | |
| 8 | CAR06.03 | Skin myxoma | Sporadic | – | 2p | |