Table 1.
AIP mutations identified in pituitary adenoma patients from the European and North American populations
| Patients | Mutation* | Fragment | No of patients with AIP mutation (%) | Clinical data | Normal AIP allele lost in tumor | Sex | Age at diagnosis, years | Family history of pituitary adenoma | Controls | |
|---|---|---|---|---|---|---|---|---|---|---|
| Young acromegaly | ||||||||||
| Germany | c.66-71delAGGAGA | Exon | 1 | 1 of 27 (3.7) | Acromegaly-GHoma | Yes | M | 20 | Yes (acromegaly) | 0 of 532 |
| c.878-879AG→GT (p.E293G) and c.880→891delCTGGACCCAGCC | Exon | 6 | 1of 27 (3.7) | Acromegaly-GHoma | Yes | F | 29† | NA | 0 of 255 | |
| Finland | c.40C→T (p.Q14X) | Exon | 1 | 2 of 36 (5.5) | Acromegaly-GHoma | NA | M | 36 | No | 0 of 532 |
| — | — | — | Acromegaly-GHoma | NA | F | 41 | No | 0 of 532 | ||
| Unselected acromegaly | ||||||||||
| Italy | — | — | 0 of 71 | — | — | — | — | — | — | |
| Unselected pituitary adenoma | ||||||||||
| U.S. | IVS2-1G→C | Intron 2 | 1 of 113 (0.9) | Acromegaly-GHoma | NA | M | 20 | No | 0 of 202 | |
| c.824-825insA | Exon 6 | 1 of 113 (0.9) | GHoma | Yes | M | 8 | No | 0 of 201 | ||
| Poland | c.911G→A (p.R304Q) | Exon 6 | 1 of 122 (0.8) | Cushing's disease–ACTHoma | NA | NA | 26 | No | 0 of 255 | |
| MEN1-negative | ||||||||||
| Spain | c.542delT | Exon | 4 | 1 of 55 (1.8) | Acromegaly–GHoma | NA | M | 18 | Yes (acromegaly) | 0 of 203 |
| The Netherlands | c.896C→T (p.A299V) | Exon | 6 | 1 of 36 (2.8) | Acromegaly–GHoma | NA | F | 16 | No | 0 of 255 |
ACTHoma, ACTH-secreting adenoma; F, female; GHoma, GH-secreting adenoma; M, male; NA, not available.
*Only putative pathogenic changes are depicted.
†Age at time of operation; age at time of diagnosis is not known.