Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Parathyroid carcinoma accounts for 0.5 to 5% of all cases of hyperparathyroidism. We reviewed the clinical, surgical, and pathologic features observed in all patients with parathyroid carcinoma evaluated at the Mayo Clinic from 1920 through 1991. Forty-three patients (22 women, 21 men; mean age, 54 yrs, range 29-72) were identified, including 2 with familial hyperparathyroidism. Information on initial presentation was available in 40 patients: 15 (38%) presented with polydipsia or polyuria, 11 (27%) with myalgias or arthralgias, 7 (17%) with weight loss, and 4 (10%) with nephrolithiasis; 3 patients (7%) were asymptomatic at presentation. Of 31 patients in whom the initial neck examination was recorded, 14 (45%) had a palpable neck mass. The mean serum calcium and serum phosphorus levels were 14.6 mg/dl and 2.3 mg/dl, respectively. Parathyroid hormone levels were elevated in 21 of 21 patients (mean elevation, 10.2 times upper limit of normal). Complications included nephrolithiasis in 14 of 25 patients (56%), bone disease in 20 of 22 patients (91%) and both in 8 of 15 patients (53%). All patients underwent primary surgical resection of parathyroid carcinoma. Twenty-six of 43 patients (60%) required a second operation with 18 patients requiring multiple re-explorations. At the second operation, residual tumor was found in the neck (68%), mediastinum (16%), or both (12%). Six patients received radiation therapy to the neck (5 patients) or bones (1 patient) for recurrent or metastatic disease. Of these, 1 patient appeared cured of parathyroid carcinoma by radiation therapy 11 years after documented tumor invasion of his trachea. Repeated excision of tumor recurrences was an effective means of controlling hypercalcemia in these patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Parathyroid carcinoma: clinical and pathologic features in 43 patients. 151 93

A case of parathyroid carcinoma is presented. A 46-year-old female was admitted to our hospital for fractures of both femurs on July 29, 1983. Laboratory data revealed a serum calcium level of 15.2 mg/dl, serum phosphate level of 1.2 mg/dl, serum immunoreactive parathyroid hormone 9.35 ng/ml (less than 0.5), and % tubular reabsorption of phosphate of 57%. X-ray examination showed marked osteitis fibrosa cystica. The diagnosis of primary hyperparathyroidism was made. A hard tumor was palpable on the left anterior side of her neck. Neck exploration was carried out on August 10. The tumor was found to be localized in contact with the left lower lobe of the thyroid gland. Parathyroid carcinoma was strongly suspected, because the tumor severely adhered to surrounding tissues, thus the tumor was resected en bloc. The histopathological diagnosis was typical parathyroid carcinoma. Postoperative course and the treatment of the fractures were uneventful, and she was discharged able to walk five months after the operation. No evidence of recurrence or metastasis has been seen during the eighteen months since the operation. This is the 80th case in the Japanese literature to our knowledge and the clinical features of these 80 cases revealed an average age of 41.5 years old; male/female ratio of 32/48; average weight of tumor of 8.65 g, palpable neck mass in 72%, bone disease in 64%, and renal disease in 34%.
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PMID:[Parathyroid carcinoma: report of a case]. 361 27

Parathyroid carcinoma is an uncommon malignancy. It accounts for less than 1% of cases of primary hyperparathyroidism (HPT). It is manifested by severe hypercalcemia and up to 50% of patients will have concomitant kidney or bone disease. The etiology of parathyroid carcinoma is unknown, however, the recently discovered HRPT2 gene, a tumor suppressor gene encoding for the protein parafibromin, has been implicated in the pathogenesis. Identification of inactivating germ-line mutations in HRPT2 has significant implications for diagnosis and management. This article summarizes the genetic aspects of parathyroid carcinoma, reviews its clinical manifestations, and outlines the principles of surgical therapy, the indications for adjuvant therapy, and the use of bisphosphonate and calcimimetic agents for management of hypercalcemia.
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PMID:Parathyroid carcinoma. 1571 75

Parathyroid carcinoma is a rare condition, comprising less than 1% of the cases of primary hyperparathyroidism (PHP). Nonetheless, due to its aggressiveness, and having prognosis dependent on the precocity of diagnosis and radical therapeutic approach, it is paramount that the clinical suspicion be made before surgery. Clinical presentation is typical of severe PHP, with a parathyroid tumor >1.5 cm, usually palpable. The pathologic features sometimes are difficult to characterize. Our experience with this condition (from 1983 to 2004) includes 7 cases, all symptomatic, hypercalcemic syndrome and bone disease present in most of them. In 6/7 the tumor was palpable, and in all the biochemical profile was compatible with severe PHP. Three patients died of complications of hypercalcemia. Recent findings point to a mutation on the gene HRPT2 as the molecular base for the development of this kind of tumor. The therapeutic approach is surgical and should include ipsilateral thyroidectomy and cervical exploration in order to find possible local metastasis. Post-surgical complications (mainly hypocalcemia) are proportional to the pre-existing metabolic alterations. The long-term prognosis depends upon the precocity of diagnosis, surgical success and control of hypercalcemia. New therapeutic approaches, based on bisphosphonates and calcimimetic drugs, as well as the possibility of genetic diagnosis, tend to ameliorate the prognosis of this severe affection.
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PMID:[Parathyroid carcinoma]. 1693 1

(1) Patients who require dialysis for chronic renal failure develop phosphocalcium metabolic disorders that often lead to secondary hyperparathyroidism. Standard treatment consists of a phosphate chelator and vitamin D, along with the use of an appropriate calcium concentration in the dialysis bath, but is difficult to manage. (2) Parathyroid cancer is a rare malignancy frequently associated with hypercalcaemia. (3) Cinacalcet is a calcimimetic agent that reduces the parathormone level. Clinical evaluation includes more than a dozen dose-finding studies and clinical trials. The optimal dose seems to range from 30 to 180 mg/day and varies widely from one patient to another. (4) 3 double-blind placebo-controlled trials, lasting for a maximum of one year and involving a total of 1136 dialysis patients with chronic renal failure, showed no improvement in quality of life with cinacalcet. The target parathormone level was reached by 40% of patients on cinacalcet versus 5% of patients on placebo, while the effects of cinacalcet on calcium levels (-7%) and phosphate levels (-8%) were modest. No impact on bone complications is mentioned in available reports. (5) The assessment of treatment of parathyroid cancer is limited to one ongoing non comparative trial involving 21 patients. (6) During clinical trials, 11% of dialysis patients had low parathormone levels, creating a risk of adynamic bone disease and fractures, but available data are sparse. (7) Two-thirds of patients receiving cinacalcet have episodes of hypocalcaemia, which may in part account for reports of seizures (1.4% of patients), nausea (31%) and vomiting (27%). Many adverse effects seen in animal studies have not been adequately investigated in the clinical setting, such as an increase in the QT interval, thyroid disorders, and sexual dysfunction. Cinacalcet is a powerful CYP 2D6 inhibitor and is also metabolised by isoenzymes CYP 3A4 and CYP 1A2, creating an increased risk of drug interactions. (8) In practice, treatment with cinacalcet seems difficult to manage and to provide only limited benefits. Available assessment reports leave many questions unanswered, and this is a further reason not to use this product outside of clinical trials, either after failure of phosphate chelator and vitamin D therapy (especially as an alternative to surgery) or in parathyroid cancer.
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PMID:Cinacalcet: new drug. Secondary hyperparathyroidism: where are the clinical data? 1676 95

Parathyroid carcinoma is very rare, with only a few documented cases. Hence, metastatic lesions are infrequently documented on scintigraphic imaging. We present a case of a 63-year-old female presenting with elevated serum levels of ionized calcium and parathyroid hormone (PTH) who was referred to our department for a parathyroid scan with SPECT/CT. Parathyroid scintigraphy showed a focus of increased 99mTc-sestamibi uptake corresponding to a solid mass with calcification in the inferior pole of the right thyroid lobe; tracer retention was noted on delayed images. Incidentally, focal uptake was also seen in a soft tissue mass on the 7th right rib. The patient soon underwent total thyroidectomy, with biopsy revealing parathyroid carcinoma on the right lobe. A bone scan done 7 months after surgery confirmed the presence of metastatic bone disease. The concomitant detection of intrathyroidal and extrathyroidal sestamibi-avid masses on parathyroid scintigraphy should increase clinical suspicion of a metastatic process from parathyroid carcinoma.
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PMID:Utility of 99mTc-Sestamibi SPECT/CT in the Early Localization of Metastatic Parathyroid Carcinoma. 2999 52