. 2017 Oct 26;6(8):886–891. doi: 10.1530/EC-17-0207
This work is licensed under a Table 1.
Clinical and molecular features of the proband and relatives.
| Sex | Age | Ca2+ib | PTHc | PHPT | Kidney stones | Pituitary | Pancreas | Parathyroid | Size (cm) | Adrenal | Other | MEN1 | CDC73 | IHC | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Menin | Parafibromin | |||||||||||||||
| II:4a | M | 62 | NA | NA | Yes | Yes | No | Multiple PNET | Carcinoma, hyperplasia | 7.3 | Yes | Prostate | p.D418N | Neg | NP | NP |
| II:6 | M | 55 | 1.48 | 286 | Yes | Yes | No | No | Carcinoma | 4.6 | Yes | Melanoma lipoma schwannoma | p.D418N | Neg | Pos | Pos |
| III:1 | F | 26 | 1.34 | 77 | Yes | Yes | NA | NA | NA | 1.4/1 | No | No | p.D418N | NP | / | / |
| III:2 | M | 21 | 1.30 | 43 | No | No | No | No | No | / | No | No | p.D418N | NP | / | / |
a, proband; b, normal range: 1.12–1.32 mmol/L; c, normal range: 10–65 pg/mL.
IHC, immunohistochemistry; NA, not available; neg, negative; NP, Not Performed/Not Applicable; PHPT, primary hyperparathyroidism; PNET, pancreatic neuroendocrine tumor; pos, positive; PTH, parathyroid hormone.