Table 1.
Summary of characteristics of seven cases with rare pathogenic PAM variants
| ID | Diagnosis | Gender | Pathogenic PAM variant(s) | Ethnicity | Age at disease onset (years) | Age at PA diagnosis (years) | Tumor size (mm) | Treatment | Other clinical diagnoses |
|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||
| II-2* | GH excess (gigantism) | M | c.2108G>A (p.Arg703Gln) | Caucasian | <10 | 35–40 | 4 | PegV | hypogonadism, adrenal nodules, pleural masses, severe osteopenia, muscular atrophy, diverticulosis |
| II-3* | GH excess (gigantism) | M | c.2108G>A (p.Arg703Gln) | Caucasian | <10 | 35–40 | 5x6 | TSS, SSA, PV | hypogonadism, pancreatic and colon adenocarcinoma |
| III-3* | GH excess (gigantism) | M | c.2108G>A (p.Arg703Gln) | Caucasian | 1–5 | 1–5 | n.a. | SSA, PegV | hypotonia |
| NIH26 | pediatric CD | F | c.2332-2A>T (p.His778fs) | Caucasian | 10–15 | 10–15 | 3 | TSS | scleroderma |
| NIH36 | pediatric CD | F | c.-133T>C | African-American | 10–15 | 10–15 | 10 | TSS (×3) | no |
| Belgium128 | GH excess (gigantism) | M | c.2276T>C (p.Phe759Ser) | Latino | 15–20 | 20’s | Macro | TSS, SRL | none |
| Belgium197 | GH excess (acromegaly) | M | c.1654G>A (p.Gly552Arg), c.1688A>G (p.Asp563Gly) | Caucasian | 40’s | 40’s | 40 | TSS, SRL, RTx | none |
F, female; M, male; n.a., not applicable; PA, pituitary adenoma; PegV, pegvisomant; RTx, radiotherapy; SRL, somatostatin receptor ligand; TSS, transsphenoidal surgery.
*
Member of the index FIPA kindred.