Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020437 (hypercalcemia)
10,293 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Parathyroid carcinoma is an uncommon malignancy. Of the fewer than 400 cases reported, most have been cases of producing parathyroid carcinoma with accompanying hypercalcemia. Only 13 patients with nonproducing parathyroid carcinoma have been described. Nine of these 13 patients had metastatic disease. We report a patient with i.c. metastasis. Distal metastases of producing parathyroid carcinoma are treated surgically to prolong survival and prevent complications of hyperparathyroidism and hypercalcemia. One half of the patients with producing parathyroid carcinoma die within 5 years, mostly because of the complications of hypercalcemia. Nonproducing parathyroid carcinoma compares unfavorably with producing parathyroid carcinoma in terms of tumor progression and prognosis. Few data on choice of therapy in nonproducing parathyroid carcinoma are available. We treated our patient with a combination of radiotherapy and chemotherapy. Treatment was followed by an unexpectedly prolonged survival of 31 months after diagnosis of metastatic disease.
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PMID:Painful ophthalmoplegia from metastatic nonproducing parathyroid carcinoma: case study and review of the literature. 1177 32

We describe a patient with multiple endocrine neoplasia type 1 characterized by the simultaneous occurrence of parathyroid cancer, parathyroid adenomas, and pancreatic gastrinoma, who presented with an episode of acute hypercalcemia. The rapid parathyroid hormone assay provided a basis for the diagnosis of parathyroid hyperfunction. Mediastinal metastasis of the parathyroid carcinoma was found at autopsy. However, the staining of pancreatic and gastric tissue for parathyroid hormone-related protein does not make it possible to exclude completely the contribution of this peptide in mediating the hypercalcemia. To our knowledge, this is the first reported case of parathyroid carcinoma as part of the multiple endocrine neoplasia type 1 syndrome.
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PMID:Concurrent parathyroid adenomas and carcinoma in the setting of multiple endocrine neoplasia type 1: presentation as hypercalcemic crisis. 1217 21

Parathyroid carcinoma is a rare disease. The first report of parathyroid carcinoma with sarcomatous differentiation is presented. A parathyroid mass measuring 6 x 8 x 9 cm was surgically excised from the left side of the neck in a 54-year-old man who had mild hypercalcemia. Light microscopic examination of the mass showed carcinoma with areas of rhabdomyosarcoma and chondrosarcoma. Immunohistochemical studies confirmed the light microscopic impression. Resolution of hypercalcemia followed excision of the mass, but multiple pulmonary and adrenal masses subsequently developed and led to the patient's death despite aggressive trials of chemotherapy with doxorubicin, ifosfamide, and cisplatin. The sarcomatous elements of the mass excised from this patient are presumed to represent aberrant cellular differentiation previously described in uterine and other tissue but not in parathyroid glands. Sarcomatous differentiation itself appears to be a poor prognostic factor in parathyroid carcinoma.
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PMID:Parathyroid carcinosarcoma: a previously unreported entity. 1241 21

Parathyroid carcinoma is an uncommon endocrine malignancy, with difficult diagnosis. There are several presenting clinical and biochemical features that suggest it: much higher serum calcium and PTH levels than parathyroid adenomas, symptoms of severe hypercalcemia, the classical target organs affected and a palpable neck mass. Pathologic findings, local invasion, lymph node and distant metastases prove the diagnosis. Initial surgical therapy (en bloc dissection) is the only chance for cure it. The management of recurrent and/or metastatic parathyroid carcinoma is also surgical, resulting in significant palliation from hypercalcemia, whereas radiation therapy and chemotherapy are not helpful. Bisphosphonates (drugs that inhibit bone resorption) control acute and chronic hypercalcemia when surgery is not effective or possible. Preoperative localization studies (cervical ultrasound, CT scan, MRI and sestamibi scan) are useful in patients with recurrent or persistent parathyroid cancer.
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PMID:[Diagnostic-therapeutic management of parathyroid carcinoma]. 1259 36

Parathyroid carcinoma accounts for 0.5 to 4.0% of cases of primary hyperparathyroidism. The prognosis depends largely on the extent of successful resection at the time of initial operation. Therefore, early diagnosis before surgery is important. We report 3 cases of primary hyperparathyroidism. The first patient, a 20-year-old uremic female, had refractory hypercalcemia after 5 years of hemodialysis treatment. Hypercalcemia persisted despite repeated parathyroidectomy. Pathology revealed diffuse hyperplasia of the parathyroid glands with focal adenomatous changes. Multiple pulmonary metastases were found later. The second patient, a 45-year-old female with history of nephrolithiasis, presented with severe osteoporosis. She underwent repeated parathyroidectomy for local recurrence. Pathology disclosed typical features of parathyroid carcinoma with adjacent lymph node metastasis. The third patient, a 34-year-old male, had recurrent episodes of extremity fracture and hypercalcemia with palpable neck mass. He underwent resection of the parathyroid tumor. Vascular and capsular invasions were noted microscopically. All three patients were relatively young and had extremely high intact parathyroid hormone (iPTH) level (15 to 31 times the upper limit of normal). The first patient died of hypercalcemia and respiratory failure and the other 2 were treated successfully with surgical excision and, in case 2, combined chemotherapy and radiotherapy. The latter 2 patients had no recurrence during 18 months and 14 months of follow-up, respectively. Our experience with these cases suggests that the combination of the following characteristics are highly suggestive of parathyroid carcinoma: young age, palpable neck mass, concomitant renal and skeletal disease, and extremely high iPTH level in patients with PTH-dependent hypercalcemia.
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PMID:Variability of clinical presentations in three cases of parathyroid carcinoma. 1283 92

Parathyroid carcinoma is a rare cause of primary hyperparathyroidism and these tumours are usually hyperfunctional as opposed to other malignant endocrine tumors. Surgery is the only effective treatment while nonsurgical modalities yield poor results. We report a patient, who presented with palpable mass in the neck and severe hypercalcemia. He underwent debulking surgery and received allendronate, calcitonin, dacarbazine followed by in- situ alcohol instillation with some success.
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PMID:Parathyroid carcinoma: difficult management options. 1292 68

Familial isolated hyperparathyroidism (FIHP) can result occasionally from the incomplete expression of a syndromic form of familial hyperparathyroidism (HPT), specifically multiple endocrine neoplasia type 1 (MEN1), familial hypocalciuric hypercalcemia, or the hyperparathyroidism-jaw tumor syndrome (HPT-JT). The cause of FIHP has not been identified in the majority of families. We investigated 32 families with FIHP to determine the frequency of occult mutation in HRPT2, the gene causing HPT-JT. All families had negative clinical testing for MEN1, hypocalciuric hypercalcemia, and HPT-JT and negative mutational screening of MEN1 and CASR, the gene for the calcium-sensing receptor. Thus, an extended effort was made to exclude each of the principal syndromic causes of FIHP. The families were characterized by young probands (42 +/- 3 yr) and occasionally unusual parathyroid histology, including four families with one case of parathyroid cancer. We had speculated that there was a high frequency of occult mutation in HRPT2 among such carefully screened kindreds. This hypothesis became testable with the recent identification of that gene. Among the 32 FIHP families, only a single one was found to have a mutation in HRPT2 (679insAG); this mutation predicts premature truncation of its gene product, parafibromin, and thus its presumed inactivation. Even accounting for families with one of the three occult syndromes and false negative biochemical or DNA testing, these results indicate that an unexpectedly large fraction of FIHP has currently unrecognized causes.
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PMID:Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. 1471 34

Parathyroid carcinoma is a rare entity with an 0,5-1% of incidence on primary hyperparathyroidism (HPP) in literature. The very high values of calcium and parathormone (PTH) and the clinical aspects of hypercalcemia are the characteristics findings in these patients. We present our experience on 6 pts on 153 cases with HPP treated (3,9%). The clinical and diagnostic suspects are frequently intraoperative findings and the decision making for the surgeon is not always easy (parathyroidectomy with or without hemithyroidectomy, lymphadenectomy, surgical resection of other tissues). The mortality rate is high and we have registered three deaths at 8,14 and 64 months.
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PMID:[Parathyroid carcinoma: clinical aspects and therapy]. 1501 6

Recent progresses in the ability to obtain a secure diagnosis and preoperative localisation have resulted in a lower threshold for surgery of primary hyperparathyroidism. We questioned whether these trends have been accompanied by an improvement in surgical results, or changes in the profile of the disease among operated patients. From a total of 511 operations (499 patients), we retrospectively investigated the data from three successive periods of 10 years each: (1973-1982: 73 operations; (1983-1992): 155 operations; (1993-2002): 283 operations. Rates of surgical failure, defined as persistent hypercalcaemia at six months, have progressively declined: 6.8%, 1.3% and 0.7% respectively. There also has been a decline in the rates of permanent hypoparathyroidism or laryngeal nerve injury. However, these complications were highly influenced by the underlying pathology (surgery for single adenoma versus surgery for multiple gland disease) and by the need for concomitant thyroid surgery. Considering signs and symptoms, the frequency of kidney stones has declined from 50% to 29.7%, while the rate of patients diagnosed at routine screening has increased from 19% to 39%. The prevalence of parathyroid cancer among operated patients has successively declined from 6.8% to 1.3%, then 0% during the last period. Our data suggest that present improvement in the success rate of parathyroid surgery be partly due to improvement in preoperative localisation. Among imaging techniques, subtraction scintigraphy, based on the simultaneous recording of technetium-99m-sestamibi and iodine-123, provided the highest rate of accurate location (92.6%). Because this imaging technique depicted a majority of cases of multiple parathyroid gland disease at prospective evaluation (14 out of 15), we now use it to select appropriate cases for a focussed surgery under local anaesthesia, without the additional need for intraoperative PTH monitoring. The present good surgical results would justify surgery even for elderly or asymptomatic patients. Surgery carried out before appearance of symptoms seems beneficial. Only asymptomatic patients with a short life expectancy may be denied surgery.
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PMID:[Primary hyperparathyroidism: three decades of evolution in diagnostic and imaging techniques and advantages of early surgery]. 1514 84

Parathyroid carcinoma constitutes less than 1% of primary hyperparathyroidism. The exact etiology is not known. Prior radiation to neck, chronic renal failure and genetic factors are thought to play a role. The male to female ratio is one. Parathyroid carcinomas are slow growing, have a tendency to recur locally and metastasize late. 95% of parathyroid carcinomas are functioning. The major distinguishing features of malignant hyperparathyroidism are presence of a palpable mass in the neck and features of severe hypercalcemia. By far the most important test to diagnose primary hyperparathyroidism is serum level of Immunoreactive PTH. The diagnosis of primary hyperparathyroidism is essentially clinical and biochemical. Biopsy is not necessary before definitive surgery. CT scan appears to be the best investigation for detecting the primary tumor, its local extent and metastases. Most of the symptoms are attributable to hypercalcemia, which needs to be treated aggressively. Early surgery with 'en bloc' resection of the tumor is the only potentially curative treatment. Parathyroid carcinoma is traditionally said to be resistant to radiotherapy. Various chemotherapeutic agents have been used with partial anecdotal responses. The 5-year survival is about 50% and 10-year survival varies from 13-49%.
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PMID:The carcinoma of parathyroid gland. 1531 9


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