A case report of parathyroid cancer with <i>CDC73</i> gene mutation after femoral neck fracture

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  • 大腿骨頸部骨折を契機に診断に至った<i>CDC73</i>遺伝子バリアントを伴う副甲状腺癌の一例

Abstract

Among cases of primary hyperparathyroidism, familial hyperparathyroidism accounts for 2-5%, and diseases with CDC73 gene mutation include hyperparathyroid jaw tumor syndrome and familial isolated primary hyperparathyroidism. In this report, we describe a case of parathyroid carcinoma with CDC73 gene mutation who was referred for surgery due to primary hyperparathyroidism. The patient, a 19-year-old woman, presented to our department with suspected primary hyperparathyroidism following a femoral neck fracture. Blood tests showed elevated calcium and intact-PTH levels, and imaging studies revealed a left lower parathyroid tumor and systematic fibrous osteitis. Genetic testing revealed a CDC73 gene mutation, and combined resection of the left lower parathyroid gland and left lobe of the thyroid gland was performed. Postoperatively, hypercalcemia and fibrous osteitis improved, and pathological examination confirmed the diagnosis of parathyroid carcinoma. We will continue to follow up the patient with attention to recurrent metastasis of parathyroid carcinoma and systematic complications associated with CDC73 gene mutation.

Journal

  • Toukeibu Gan

    Toukeibu Gan 50 (1), 33-38, 2024

    Japan Society for Head and Neck Cancer

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