Table 1.
Main genetic and histological characteristics of parathyroid samples, and clinical features
| Parathyroid tissue histological analysis | Mutation of the MEN1 gene | LOH at 11q13 (MEN1 locus) | First endocrine manifestation | Endocrine lesions |
|---|---|---|---|---|
| Non-LOH MEN1 PA | g.953delGA | NO | PHPT | Multiple parathyroid adenomas |
| Non-LOH MEN1 PA | g.317insGCCCC | NO | Hypoglycemia | Multiple parathyroid adenomas, pancreatic adenoma |
| Non-LOH MEN1 PA | g.359delGTCT | NO | Kidney stones | Multiple parathyroid adenomas, osteoporosis |
| LOH MEN1 PA | g.953delGA | YES | PHPT | Multiple parathyroid adenomas |
| LOH MEN1 PA | g.335delA | YES | Hypoglycemic crisis | Multiple parathyroid adenomas, microprolactinoma, insulinoma, bilateral surrenalic hyperplasia |
| LOH MEN1 PA | g.1434delC | YES | ZES | Multiple parathyroid adenomas, pancreatic gastrinoma, microprolactinoma |
| LOH MEN1 PA | g.908delGCT | YES | PHPT, kidney stones | Multiple parathyroid adenomas, microprolactinoma, pituitary macroadenoma secreting GH, lung carcinoid, pancreatic adenoma |
PA = parathyroid adenoma; LOH = loss of heterozygosity; NA = Data not available; PHPT = primary hyperparathyroidism; ZES = Zollinger-Ellison syndrome; GH = growth hormone.