Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome
Authors' conclusion
Multiple, recurrent atypical adenomyomatous uterine polyps appear to be enriched in women with HPT-JT and appear characteristic of the disease. Patients with CDC73 variants at p.M1 residue appear predisposed to kidney tumors.
Study context
- Population
- Patients with hyperparathyroidism-jaw tumor (HPT-JT) syndrome (genetically confirmed or affected first-degree relatives), 29 kindreds; median age at last follow-up 39 [IQR, 29–53] years29 kindreds
- Participants
- 68 patients
- Outcome
- Natural history of HPT-JT
Methodological detailsparafibromin immunostaining, RNA-sequencing
- Parafibromin immunostaining
- RNA-sequencing
Main finding
As reported in the abstract
- Developed PHPT
- 55/68 (81%)
- Parathyroid carcinoma among those with PHPT
- 17/55 (31%)
- Females with uterine tumors
- 12 of 32 (38%)
- Resected uterine tumors that were rare mixed epithelial mesenchymal polypoid lesions (11 patients)
- 12/24 (50%)
- Solid kidney tumors
- 4 of 68 (6%)
- Kidney tumor patients with CDC73 variant at p.M1 residue
- 3/4
Observational data: associations, not effects.
Further findings
Parafibromin staining of parathyroid tumors (19 patients: 13 adenomas, 6 carcinomas)
- Parafibromin staining did not correlate with tumor histology or genotype
RNA-sequencing of 21 parathyroid samples (8 HPT-JT adenomas, 6 HPT-JT carcinomas, 7 sporadic carcinomas with wild-type CDC73)
- HPT-JT-related parathyroid tumors significantly associated with transmembrane receptor protein tyrosine kinase signaling, mesodermal commitment pathway and cell-cell adhesion
Original publication
Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome. J Clin Endocrinol Metab. Published 20 June 2023. doi:10.
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