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)

A case of 67-year-old woman with hyperthyroidism due to functioning thyroid adenoma is reported. The patient had concomitant follicular thyroid adenoma and primary hyperparathyroidism in addition to functioning adenoma. Histological examination of the excised thyroid tissue revealed occult papillary carcinoma within a functioning adenoma. Genetic analysis of such tumors indicated that functioning adenoma and papillary carcinoma may be etiologically independent. There have been a number of case reports on the coexistence of functioning thyroid adenoma and thyroid cancer or hyperparathyroidism, but none of the studies had examined the etiologic relationship of these lesions on a genetic basis. Furthermore, to our knowledge, this is the first report of the concurrence of four tumors in the neck, functioning thyroid adenoma, papillary thyroid carcinoma, follicular thyroid adenoma and parathyroid adenoma.
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PMID:Hyperfunctioning thyroid adenoma concomitant with papillary thyroid carcinoma, follicular thyroid adenoma and primary hyperparathyroidism. 962 47

Multiple endocrine neoplasia type 2 (MEN 2) is a rare syndrome of medullary thyroid carcinoma (MTC) with pheochromocytoma and/or primary hyperparathyroidism (PHP), usually due to multigland hyperplasia. MEN 2 is associated with several RET protooncogene mutations. A 61-year-old woman with a family history of RET-positive MTC presented with a solitary thyroid nodule. Fine-needle aspiration biopsy was suspicious for neoplasm. Biochemical studies revealed basal hypercalcitoninemia (116 pg/mL [normal <26]) and PHP (serum calcium, 10.9 mg/dL; intact PTH, 113.2 pg/mL [10.0-65.0]). Pheochromocytoma screening was negative. A provisional diagnosis of MEN 2 was made, but at surgery, a single parathyroid adenoma was resected and frozen sections of several lymph nodes revealed papillary thyroid carcinoma (PTC). A total thyroidectomy was performed. Final histological diagnosis was PTC and parathyroid adenoma with no evidence of MTC. Postoperatively, RET mutation testing was positive. The basal calcitonin (CT) fell to 25 pg/mL, but peaked at 935 (normal <105) after pentagastrin infusion, consistent with occult MTC. After radioiodine ablation, CT decreased further. Octreotide scanning was negative. Faced with PHP, a thyroid nodule, and a family history of MTC, clinicians tend to diagnose MEN 2. This patient had a single parathyroid adenoma and nonmedullary thyroid cancer, which the literature actually suggests to be an association more frequent than MEN 2. Yet, there remains compelling data in favor of occult MTC, leaving open the possibility of an MEN 2 variant with the rare association of PTC.
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PMID:Papillary thyroid carcinoma, parathyroid adenoma, and unexplained hypercalcitoninemia: an unusual presentation of multiple endocrine neoplasia type 2A? 977 49

The aim of this study was to assess the feasibility of a minimally invasive parathyroidectomy performed by videocervicoscopy. 19 patients were operated. Preoperative localization by ultrasonography and/or technetium 99 m sestamibi scan was performed in 17 patients. The technique was first attempted in two pigs, using three 2.5 mm trocars and a 2.5 mm endoscope. However, this technique failed in the first two human cases because of the lack of optical clarity of the 2.5 mm endoscope. A 5 mm endoscope was subsequently used. Carbon dioxide insufflation was maintained at 10 mmHg with a low 3 L/min flow. Three trocars were inserted in to the cervical space: one 5 mm trocar for the endoscope, two 3 mm trocars for the instruments. A unilateral neck exploration was carried out in 5 cases and a bilateral neck exploration in 14 cases. Enlarged glands were discovered in 13 patients (12 adenomas, 1 hyperplasia of the 4 glands). 8 adenomas were removed via a short midline incision, 4 others via a short lateral incision. Horizontal cervicotomy was required in 7 cases (4 failures to identify the abnormal gland, 1 thyroid cancer discovered incidentally, 1 hyperplasia of 4 glands and 1 anterior jugular vein bleeding). Except for the case of bleeding, no other complication occurred. Subcutaneous emphysema resorbed in 3 hours. 17 patients were discharged within 48 hours and 2 patients were discharged within 24 hours. 18 patients had normal serum calcium two months postoperatively. This study demonstrates that videocervicoscopy is safe and feasible in primary hyperparathyroidism.
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PMID:[Videocervicoscopy in surgery of primary hyperparathyroidism. Preliminary study of 19 patients]. 988 77

This report describes 3 cases of primary hyperparathyroidism (PHP) in which presurgical localization of the culprit lesions was essential. In 2 cases, the initial parathyroid surgery had failed to restore normal levels of either parathyroid hormone (PTH) or calcium (Ca(++)). In each of these cases experienced surgeons performed the initial parathyroid explorations. In one of these 2 cases, a positive 99mTc sestamibi (MIBI) scan was obtained prior to the initial surgery. 11C-methionine-positron emission tomography (PET) scans and magnetic resonance imaging (MRI) studies were performed prior to repeat surgical exploration with these data coregistered (the digital data sets from each modality were spatially aligned). In each case, the 11C-methionine-PET studies identified metabolically active tumors whose anatomic locations were accurately determined on the PET coregistration. The third case had previously undergone a thyroidectomy and modified right radical neck dissection for removal of a thyroid cancer and regional lymph node metastases. Following the diagnosis of PHP, MIBI, thallium, and ultrasound studies were performed and were all negative. 11C-methionine-PET and MRI were performed identifying a parathyroid adenoma in the prior surgical field. In these 3 cases culprit lesions were readily located at surgery, excised and confirmed as parathyroid neoplasms. This 11C-methionine PET-MRI coregistration technique appears to be effective at localizing parathyroid neoplasms in high risk patients with PHP in the setting of initially failed surgery or when PHP occurs following previous regional neck surgery.
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PMID:Three Cases of Primary Hyperparathyroidism (PHP) with Prior Failed Surgery Where Culprit Lesions Were Identified by 11C-Methionine Positron Emission Tomography (PET) and Accurately Localized with PET-MRI Coregistration. 1074 79

We report an interesting case of a 47-yr-old who had a large goiter and multiple rib tumors. The patient was initially suspected of having thyroid cancer, which had metastasized on the ribs, based on imaging studies. However, laboratory tests revealed a high level of ionized calcium and parathyroid hormone (PTH). The large goiter was diagnosed as having parathyroid tumors owing to the high level of PTH in the tissue fluid. The biopsy specimen from a rib tumor was diagnosed as containing brown tumors associated with primary hyperparathyroidism (PHP). The patient also had prolactinoma and pancreatic gastrinoma. Her daughter had both prolactinoma and PHP, and her brother and her father had PHP. Thus, the patient was diagnosed as having multiple endocrine neoplasia type 1.
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PMID:Large goiter and multiple rib tumors. 1085 84

The multiple endocrine neoplasia type 1 (MEN1) gene seems to be a tumor suppressor that encodes a 610-amino acid protein termed menin and that plays an important role in the development of MEN1 syndrome. Recent reports indicate that heterozygous germline mutations of this gene are responsible for the disease onset of MEN1. In this study we examined the expression of menin in parathyroid tumors from primary hyperparathyroidism (PHP), secondary hyperparathyroidism (SHP), and MEN1 and thyroid tumors including Basedow's disease, thyroid cancer, and adrenocortical tumors. Both ribonucleic acid and protein from these tumors were applied to RT-PCR and Western blotting, respectively. Primers for RT-PCR were designed to amplify the sequence between exons 2 and 3 of the MEN1 gene. Specific antibody against menin was generated in guinea pigs immunized with the recombinant peptide from amino acid residues 443-535 of menin made by using glutathione-S-transferase (GST) gene fusion. Menin messenger ribonucleic acid was strongly expressed on RT-PCR analysis in the parathyroid tumors from both PHP and SHP. Western blotting revealed a specific band of approximately 67 kDa in parathyroid tumors from PHP and SHP, with a much weaker such band detected in thyroid tumors. Menin expression was down-regulated in MEN1 samples, including nonsense mutation and deletion mutant. These findings suggest that menin is predominantly synthesized and stored in parathyroid tumors resulting from PHP and SHP.
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PMID:Expression of menin in parathyroid tumors. 1090 16

The association between primary hyperparathyroidism and nonmedullary thyroid malignancies is well known. There is also, however, some evidence for an association between secondary hyperparathyroidism (SHPT) and thyroid cancer. We report three patients in whom invasive papillary thyroid carcinoma (PTC) was diagnosed before (one case) or at the time of (two cases) parathyroidectomy for SHPT. Three women (ages 23, 54, and 64 years) presented with bone pain and pruritus typical of SHPT. All three patients had biopsy-proven parathyroid bone disease and elevated parathormone levels (664, 1674, and 2051 pg/mL). All underwent subtotal parathyroidectomy and total thyroidectomy without complications. Pathology revealed diffuse parathyroid hyperplasia with multifocal invasive papillary thyroid carcinoma (two cases) and follicular variant of papillary thyroid carcinoma (one case). Two cases were associated with metastatic disease to local lymph nodes. The patients received adjuvant radioactive 131I, and remained tumor free 24 to 36 months after surgery with complete resolution of SHPT. We conclude: 1) PTC may accompany SHPT, 2) PTCs associated with SHPT may be locally aggressive although usually they are early tumors, 3) surgeons need to have an index of suspicion for thyroid tumor when operating on patients with SHPT, and 4) routine removal of the thymus as part of the operation for SHPT may have a secondary benefit in diagnosing PTC in the occasional patient.
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PMID:Secondary hyperparathyroidism: evidence for an association with papillary thyroid cancer. 1137 34

Although the pathological association of thyroid and parathyroid disease is common, the association of both parathyroid adenoma and thyroid cancer is rare. We report here a case of a 45-year-old Saudi woman who was diagnosed to have primary hyperparathyroidism due to a single parathyroid adenoma as confirmed biochemically and radiologically. At operation, the adenoma was found to be an intrathyroid and therefore a thyroid lobectomy was performed. Histology of the excised lobe revealed in addition to the intrathyroid parathyroid adenoma a concurrent occult thyroid papillary carcinoma. This interesting association is discussed based on a literature review.
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PMID:Combined parathyroid adenoma and an occult papillary carcinoma. 1557 8

Unexpected findings during thyroid surgery in a nonuniversity setting have rarely been reported in large series. Our goal was to describe the unexpected findings during thyroid surgery in a busy regional community hospital. All thyroid operations conducted by the teaching staff at Greenville Memorial Hospital, a 735-bed nonuniversity regional hospital, from December 1998 through December 2003 were reviewed. Pre- and post-operative diagnoses, surgical procedure, and specimen histopathology were examined. Unexpected findings were defined as either thyroid pathology not anticipated based on preoperative diagnosis or as unsuspected nonthyroidal disease found during cervicotomy. During the 5-year study period, 738 patients presented with thyroid disease requiring surgery. Incidental thyroid cancer was discovered in 28 cases (3.8%), the predominance being papillary microcarcinoma. Synchronous benign thyroid disease, separate from the indication from surgery, was observed in 56 patients (7.6%). Forty patients had unexpected nodular goiter and 16 had lymphocytic thyroiditis. Primary hyperparathyroidism was observed in 33 patients (4.5%). Both solitary adenomas (22 cases) and multigland parathyroid disease (11 cases) were seen. Unexpected nonendocrine findings were less common, including solitary cases of large cell carcinoma, metastatic endometrial carcinoma, and tracheal duplication (bronchogenic cyst). In conclusion, unexpected findings during thyroid surgery at a busy community hospital are fairly common. Indeed, an unanticipated finding is encountered in one out of seven operations on the thyroid gland. Although most are of unclear clinical significance, there is a surprisingly high incidence of hyperparathyroidism. This underscores the need for preoperative screening, as the "thyroid patient" may also be the "parathyroid patient."
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PMID:Unexpected findings during thyroid surgery in a regional community hospital: a 5-year experience of 738 consecutive cases. 1637 8

The American Food and Drug Administration approval of parathyroid hormone (PTH) administration for osteoporosis as well as the possibility for its future therapeutic applications requires an examination of the suggested association between PTH and cancer, particularly osteosarcomas. The objective was to evaluate such a connection by collecting observational data from two groups of patients, designated as "studies by nature". Cohort 1: Medical records of all patients with primary hyperparathyroidism that were treated in a referral center during a 12-year period were retrospectively reviewed for malignancy before, at the time or after diagnosis. Cohort 2: Records of patients with osteosarcomas that were treated in referral centers during 15 years were retrospectively reviewed for hyperparathyroidism, as indicated by history or laboratory results. There were 582 patients with primary hyperparathyroidism. While 56 (9.6%) had malignancy, 47 (8%) developed cancer after diagnosis with hyperparathyroidism during 6.1 years of documentation. This rate did not exceed the incidence of developing cancer among the general population. Although thyroid cancer was about 4 times the incidence in the general population, this may be attributed to a high level of detection while work-up, treating and following the parathyroid disease. None had osteosarcoma. None of the 126 patients with osteosarcoma had documentation of primary hyperparathyroidism or had biochemical evidence of hyperparathyroidism. No obvious association was found between primary hyperparathyroidism and cancer. Similarly, there was no demonstrable relationship between osteosarcomas and hyperthyroidism biochemical stigmata. Since PTH may contribute to tumor invasiveness, screening for existing neoplasms, especially prostate and breast, before PTH treatment may be of importance.
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PMID:Primary hyperparathyroidism and malignancy: "studies by nature". 1653 Apr 96


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