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Published on: March 14, 2017
A case of familial isolated hyperparathyroidism with ectopic parathyroid cancer
K Yamashita1, S Suzuki, W Yumita
1Department of Aging Medicine and Geriatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Insights
This study identifies familial isolated hyperparathyroidism with parathyroid cancer in a kindred. Genetic analysis suggests MEN1 gene is not responsible for malignant potency in these cases.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Familial isolated hyperparathyroidism (FIHP) is a rare disorder.
- Parathyroid cancer is an uncommon complication of FIHP.
- The genetic basis for malignant hyperparathyroidism is not fully understood.
Observation:
- A kindred presented with primary hyperparathyroidism, with some members diagnosed with parathyroid cancer.
- The proband and his daughter had parathyroid cancer, while the son had parathyroid adenoma.
- Genetic screening revealed no mutations in the MEN1 gene.
Findings:
- The familial hyperparathyroidism cases did not show MEN1 gene mutations.
- This suggests that other genes may influence the development of parathyroid cancer.
- Ectopic parathyroid glands were noted in the thymus in two family members.
Implications:
- Further research is needed to identify novel genes associated with parathyroid cancer.
- Understanding the genetic underpinnings of FIHP can improve patient diagnosis and management.
- This case highlights the importance of genetic screening in families with hyperparathyroidism.
Abstract:
We report the kindred with familial isolated hyperparathyroidism with parathyroid cancer. The proband was diagnosed as having primary hyperparathyroidism at age 43. The same disorder was also found in his daughter who had low bone mass. His son was found to have primary hyperparathyroidism by family screening. The pathological diagnosis of the resected parathyroid in both father and daughter was parathyroid cancer, and that in son was parathyroid adenoma. The right lower gland of the proband and the left lower gland of the son were present in thymus. No mutations were found in the sequences of MEN1 gene, hence gene(s) other than MEN1 gene may have contributed to the malignant potency in our cases.
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