Germline- and Somatic-Inactivating FLCN Variants in Parathyroid Cancer and Atypical Parathyroid Tumors
Authors' conclusion
The finding of FLCN variants associated with PC may provide the foundation for the development of therapy for this malignancy.
Study context
- Population
- Patients with "sporadic" parathyroid cancer or atypical parathyroid tumors without germline CDC73 or MEN1 pathogenic variants; tumor tissue from 14 parathyroid cancer (PC) and 2 APT; sporadic parathyroid adenomas from 74 patients
- Participants
- 17 / 3 / 74
- Comparison
- PC vs APT vs Sporadic parathyroid adenomas
- PCn = 17
- APTn = 3
- Sporadic parathyroid adenomasn = 74
- Outcome
- Novel genes causing parathyroid cancer
Methodological detailsgermline and tumor sequencing, functional analysis
- Germline and tumor sequencing
- Functional analysis
Main finding
As reported in the abstract
FLCN variants
- Germline FLCN variants in unrelated patients with PC
- 3
- Germline FLCN carriers with renal cysts
- 3
- Germline FLCN carriers with lung cysts
- 2
- Somatic FLCN variants in PC/APT tumors
- 2 (1 APT) of 16
- Somatic FLCN variants in sporadic parathyroid adenomas
- 0 of 74
- No second hits in FLCN on sequencing; loss of heterozygosity at the locus in germline FLCN carriers
- 2 of 3
Original publication
Germline- and Somatic-Inactivating FLCN Variants in Parathyroid Cancer and Atypical Parathyroid Tumors. J Clin Endocrinol Metab. Published 20 March 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →