Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Parathyroid carcinoma is an infrequent cause of primary hyperparathyroidism. Although hyperparathyroidism in multiple endocrine neoplasia 1 (MEN1) syndrome is the most common manifestation, parathyroid carcinoma is rare. We report a male patient who was diagnosed at 44 years of age with parathyroid carcinoma in the context of MEN1 syndrome coincident with a malignant gastrinoma and non-functioning adrenal adenomas. A genetic analysis revealed the mutation W183C in exon 3 of the MEN1 gene. The diagnosis of carcinoma was made after parathyroid surgery; there had been no clinical suspicion prior to surgery, as the patient had presented only moderate hypercalcemia. Our review of the few published cases of parathyroid carcinoma in MEN1 syndrome reported in the literature indicates that MEN1 gene mutations do not confer a greater risk for parathyroid carcinoma and do not appear to differ from sporadic parathyroid carcinoma.
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PMID:Parathyroid carcinoma in multiple endocrine neoplasia type 1. Case report and review of the literature. 2228 90

Parathyroid carcinoma is one of the rarest known malignancies that may occur sporadically or as a part of a genetic syndrome. It accounts for approximately 1% of patients with primary hyperparathyroidism. The majority (90%) of parathyroid cancer tumors are hormonally functional and hypersecrete parathyroid hormone (PTH). Thus, most patients exhibit strong symptomatology of hypercalcemia at presentation. Sometimes, it can be difficult to diagnose parathyroid cancer preoperatively due to clinical features shared with benign causes of hyperparathyroidism. Imaging techniques such as neck ultrasound and 99mTc sestamibi scan can help localize disease, but they are not useful in the assessment of malignancy potential. Fine needle aspiration (FNA) prior to initial operation is not recommended due to technical difficulty in differentiating benign and malignant disease on cytology specimens and the possible associated risk of tumor seeding from the needle track. Complete surgical resection with microscopically negative margins is the recommended treatment and offers the best chance of cure. Persistent or recurrent disease occurs in more than 50% of patients with parathyroid carcinoma. Surgical resection is also the primary mode of therapy for recurrence since it can offer significant palliation for the metabolic derangement caused by hyperparathyroidism and allows hypercalcemia to become more medically manageable. However, reoperation is rarely curative and eventual relapse is likely. Chemotherapy and external beam radiation treatments have been generally ineffective in the treatment of parathyroid carcinoma. Typically, these patients require repeated operations that predispose them to accumulated surgical risks with each intervention. In inoperable cases, few palliative treatment options exist, although treatment with calcimimetics can effectively control hypercalcemia in some patients. Most patients ultimately succumb to complications of hypercalcemia rather than from tumor burden or infiltration.
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PMID:Parathyroid carcinoma: update and guidelines for management. 2232 83

A 72 year-old woman with primary hyperparathyroidism was operated for parathyroid crisis. PTH serum level was 808 pg/mL. During the operation, only two superior parathyroid glands were found. One was normal, and hypertrophy was revealed in the other. After the surgical procedure, PTH serum level was 726.5 pg/mL. Helical computer tomography examination showed a heterogeneous mass in the anterior mediastinum. The tumour was removed via a sternotomy approach. Histopathological examination revealed parathyroid carcinoma. PTH level dropped to 5.74 pg/mL. Cytofluorometric examination revealed diploidy (DI = 1) in both the hypertrophic and the unchanged upper glands, whereas parathyroid cancer was aneuploid. After the initial operation, the woman was discharged from the hospital on the 27th postoperative day. One year after surgical procedures, she is well. She has to take calcium.
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PMID:Mediastinal parathyroid carcinoma: a case report. 2253 54

Parathyroid carcinoma is a rare disease in pediatric patients. We present a case of a 13-year-old girl who presented to the Thyroid Department for an asymptomatic palpable neck mass for 1 year. The high levels of calcium, ionized calcium, and parathyroid hormone level along with parathyroid scintigraphy studies suggested primary hyperparathyroidism. Parathyroid carcinoma was confirmed by biopsy and pathologic examination after resection. Six months postoperatively, persistent hypercalcemia and multiple lung metastases were found on computed tomography. Bilateral lung wedge resection was performed. En bloc resection for primary parathyroid carcinoma and aggressive resection of metastatic disease is the most effective treatment to control hypercalcemia.
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PMID:Parathyroid carcinoma with lung metastasis in a thirteen-year-old girl. 2270 2

Parathyroid carcinoma (PC) is an uncommon disease affecting 0.5-5% of all patients with primary hyperparathyroidism. PC is characterized by the association of severe symptoms of hypercalcemia, high serum calcium and parathyroid hormone (PTH) concentrations and a palpable neck mass. Definitive diagnosis can only be made by histological study after surgery. We report the case of a 77-year-old man admitted to our hospital due to pulmonary embolism and hypercalcemia. The patient was initially diagnosed with primary hyperparathyroidism, but displayed the atypical clinical features described above. Due to clinical suspicion of PC, a surgical procedure was carried out. Diagnosis of parathyroid carcinoma was confirmed by histopathologic study.
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PMID:Primary hyperparathyroidism due to parathyroid carcinoma associated with pulmonary embolism. 2296 3

Parathyroid carcinoma is a rare endocrine malignancy accounting for less than 1% of all cases of hyperparathyroidism. We present a case of a middle-aged woman who was undiagnosed for 3 years before presenting with renal stones and advanced musculoskeletal disease. Investigations revealed primary hyperparathyroidism. Focused cervical exploration and left inferior parathyroidectomy was carried out based on the pre-operative localization studies. Parathyroid carcinoma was diagnosed on histopathology postoperatively. Subsequent en bloc resection was not performed and the patient is being monitored with serial parathyroid hormone levels which have not shown any increase in 6 months of follow-up. Only two previous cases of parathyroid carcinoma have been reported from Pakistan.
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PMID:Parathyroid carcinoma. 2298 Jun 15

Parathyroid carcinoma is a malignant neoplasm affecting 0.5% to 5.0% of all patients with primary hyperparathyroidism. Since it was first described by De Quervain in 1904 to this day, it continues to defy diagnosis and treatment because of its rarity, overlapping features with benign parathyroid disease, and lack of distinct characteristics. En bloc surgical extirpation of the tumor with clear margins remains the best curative treatment. Although prolonged survival is possible with recurrent or metastatic disease, cure is rarely achievable. Efficacy of adjuvant therapies, such as radiotherapy and chemotherapy, in management of persistent, recurrent, or metastatic disease has been disappointing.
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PMID:Parathyroid carcinoma: challenges in diagnosis and treatment. 2311 78

Parathyroid carcinoma is a rare cause of primary hyperparathyroidism. It may be suspected based on severe clinical signs, significant laboratory findings, and the tumor size. High-resolution ultrasonography with Doppler imaging has become the principal imaging method in the preoperative diagnosis of primary hyperparathyroidism. The ultrasound finding is not specific, but three of the described pictures are different from the typical appearance of benign adenoma of the thyroid gland and were suspicious in the context of clinical findings. According to the ultrasound criteria, one finding was benign and only the histological examination revealed carcinoma.
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PMID:Four ultrasound and clinical pictures of parathyroid carcinoma. 2321 80

Parathyroid carcinoma is a rare cause of hypercalcaemia due to primary hyperparathyroidism. Ninety five percent of parathyroid carcinomas are functional tumours. Surgery is the only potential curative treatment. This is a case of a 53 years lady, who presented with pathological fracture of femur, hypercalcaemia, deranged renal functions, change in voice, difficulty in swallowing and markedly raised parathormone levels. Doppler ultrasound localized an irregular mass at right lower gland. SESTAMIBI scan showed probability of adenoma in the region of right lower thyroid pole. Intra-operatively, tumour was found stuck to esophagus and right recurrent laryngeal nerve passing through it. Enlarged parathyroid gland was removed in toto along with the recurrent laryngeal nerve, right thyroid lobe and its isthmus.
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PMID:Parathyroid carcinoma. 2321 87

Parathyroid cancer is a rare, clinically aggressive cause of primary hyperparathyroidism, and whether these malignancies generally evolve from pre-existing benign adenomas or arise de novo is unclear. Furthermore, while inactivation of the CDC73 (HRPT2) tumor suppressor gene, encoding parafibromin, is a major contributor, other genes essential to parathyroid carcinogenesis remain unknown. We sought to identify genomic regions potentially harboring such oncogenes or tumor suppressor genes, and to gain insight into the origins and molecular relationship of malignant versus benign parathyroid tumors. We performed genome-wide copy-number and loss of heterozygosity analysis using Affymetrix 50K SNP mapping arrays and/or comparative genomic hybridization on 16 primary parathyroid carcinomas, local recurrences or distant metastases, and matched normal controls, from 10 individuals. Recurrent regions of allelic loss were observed on chromosomes 1p, 3, and 13q suggesting that key parathyroid tumor suppressor genes are located in these chromosomal locations. Recurrent allelic gains were seen on chromosomes 1q and 16, suggesting the presence of parathyroid oncogenes on these chromosomes. Importantly, the most common alteration in benign parathyroid adenomas, loss of 11q, was not found as a recurrent change in the malignant parathyroid tissues. Molecular allelotyping using highly polymorphic microsatellite markers provided further confirmation that the prevalence of 11q loss is markedly and significantly lower in carcinomas as compared with adenomas. Our observations provide molecular support for the concept that sporadic parathyroid cancer usually arises de novo, rather than evolving from a pre-existing typical benign adenoma. Furthermore, these results help direct future investigation to ultimately determine which of the candidate genes in these chromosomal locations make significant contributions to the molecular pathogenesis of parathyroid cancer.
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PMID:Allelic imbalance in sporadic parathyroid carcinoma and evidence for its de novo origins. 2343 13


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