Table 1.
Clinical features and outcome of molecular testing
| Tumor (age, y) | Family history | Germline pathogenic variant | LOH | Somatic pathogenic variant | |
|---|---|---|---|---|---|
| Patient A | Multigland PHPT; single adenoma (33 y), second adenoma (45 y) Prolactinoma (39 y) Multifocal pancreatic NET (47 y) Benign cortical adrenal adenoma (47 y) |
First-degree relative with PHPT (genetic testing not undertaken) |
CDKN1B
(c.179G > A, p.Trp60Ter) |
No | No |
| Patient B | PHPT (26 y) | No |
CDKN1B
(c.475G > A, p.Asp159Asn) |
No | ATRX (c.6406G > A, p.Asp2136Asn) |
| Patient C | Atypical thymic carcinoid tumor (31y) | Second-degree relative who underwent “neck surgery” |
CDKN1B
(c.374_375delCT, pSer125*) |
No |
MEN1
(c.974C > T, p.Pro325Leu) |
Abbreviations: LOH, loss of heterozygosity; NET, neuroendocrine tumor; PHPT, primary hyperparathyroidism.