recurrence of hyperparathyroid hypercalcemia in a patient with the hrpt-2 mutation and a previous parathyroid carcinoma in hyperparathyroidism-jaw tumor syndrome

نویسندگان

marco mele department of surgery p, breast and endocrine unit, aarhus university hospital, aarhus, denmark; department of surgery p, breast and endocrine unit, aarhus university hospital, aarhus, denmark

lars rolighed department of surgery p, breast and endocrine unit, aarhus university hospital, aarhus, denmark

marielouise jespersen department of pathology, aarhus university hospital, aarhus, denmark

lars rejnmark department of endocrinology and internal medicine mea, aarhus university hospital, aarhus, denmark

چکیده

conclusions the recurrence of hyperparathyroid hypercalcemia in htp-jt syndrome after an initial total parathyroidectomy is a well-known condition necessitating careful management, an evaluation of any underlying genetic abnormality, and a family examination. a surgical treatment and surveillance of calcium and pth measurements are necessary to prevent a recurrence. introduction cancer in the parathyroid gland is rare, but parathyroid cancer is occasionally seen in relation to genetic abnormalities. due to a limited amount of evidence, the optimal handling of these cases is not clear. furthermore, the presence of a malignant parathyroid tumor is rarely known at the time of the initial operation; therefore, re-operations are often necessary. the aim of this study was to present the case of a patient with a previously diagnosed jaw tumor and parathyroid carcinoma that presents as a recurrence of hyperparathyroid hypercalcemia. case presentation a 41-year-old patient who was already diagnosed with a parathyroid carcinoma and a jaw tumor caused by a cdc73 mutation, presented with biochemical evidence of increasing parathyroid hormone (pth) and calcium levels after a previous total parathyroidectomy. the patient’s ionized calcium increased to 1.55 mmol/l and pth increased to 16.0 pmol/l. a previous genetic analysis revealed a mutation in the cdc73 gene. there was no family history of hyperparathyroidism. we performed a sestamibi scintigraphy and an 11-c methionine (met) positron emission tomography (pet) scan that showed a recurrence on the left side of the trachea. the patient underwent a third neck operation for the removal of a tumor on the left side of the trachea. the pathology report revealed that the tumor was a lymph node metastasis from the previous parathyroid carcinoma. the patient is currently enrolled in our follow-up regime. hyperparathyroidism-jaw tumor (hpt-jt) syndrome is a rare autosomal dominant disorder characterized by a parathyroid adenoma or carcinoma, fibro-osseous lesions (ossifying fibroma) of the mandible and maxilla, and renal cysts and tumors. this autosomal dominant familial cancer syndrome has been reported with a variable and incomplete penetrance, and up to 10% of gene carriers do not show any clinical manifestations. here we present a patient’s case and discuss the literature related to this condition.

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عنوان ژورنال:
international journal of endocrinology and metabolism

جلد ۱۴، شماره ۲، صفحات ۰-۰

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