Abstract | PURPOSE: METHODS: Pathology samples were retrieved from all pituitary adenomas in patients with concomitant DTCs, including one with a known germline AIP variant. Subsequently, two additional patients with known germline AIP variants were included, of which one presented only with a follicular thyroid carcinoma ( FTC). RESULTS: In total, 17 patients (14 DTCs and 15 pituitary adenomas) were investigated by targeted next generation sequencing (NGS). The pituitary tumor samples revealed no mutations, while among the thyroid tumor samples BRAF (6/14, 42.9%) was the most frequently mutated gene, followed by NRAS (3/11, 27.3%). In one AIP-mutated FIPA kindred, the AIP-variant c.853C>T; p.Q285* was confirmed in the FTC specimen, including evidence of loss of heterozygosity (LOH) at the AIP locus in the tumor DNA. CONCLUSION: Although most observed variants in pituitary adenomas and DTCs were similar to those of sporadic DTCs, we confirmed in one AIP mutation-positive case the AIP-variant and LOH at this locus in an FTC specimen, which raises the potential role of the AIP mutation as a rare initiating event.
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Authors | E C Coopmans, A Muhammad, A F Daly, W W de Herder, F J van Kemenade, A Beckers, M de Haan, A J van der Lely, E Korpershoek, S J C M M Neggers |
Journal | Endocrine
(Endocrine)
Vol. 68
Issue 3
Pg. 640-649
(06 2020)
ISSN: 1559-0100 [Electronic] United States |
PMID | 32333269
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Germ-Line Mutation
- Growth Hormone-Secreting Pituitary Adenoma
- Humans
- Mutation
- Netherlands
- Pituitary Neoplasms
(genetics)
- Registries
- Thyroid Neoplasms
(genetics)
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