1/29. A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome.Familial primary hyperparathyroidism is the main feature of 2 familial endocrine neoplasia syndromes: multiple endocrine neoplasia type 1 (MEN 1) and hyperparathyroidism-jaw tumor syndrome (HPT-JT). The latter is a recently described syndrome that has been associated with ossifying fibroma of the jaw and various types of renal lesions, including benign cysts, Wilms' tumor, and hamartomas. To further illustrate the natural history of this syndrome, we describe a large, previously unreported Dutch kindred in which 13 affected members presented with either parathyroid adenoma or carcinoma; in 5 affected individuals, cystic kidney disease was found. Additionally, pancreatic adenocarcinoma, renal cortical adenoma, papillary renal cell carcinoma, testicular mixed germ cell tumor with major seminoma component, and Hurthle cell thyroid adenoma were also identified. Linkage analysis of the family using MEN1-linked microsatellite markers and mutation analysis excluded the involvement of the MEN1 gene. Using markers from the HPT-JT region in 1q2531, cosegregation with the disease was found, with a maximum logarithm of odds score of 2.41 obtained for 6 markers using the most conservative calculation. Meiotic telomeric recombination between D1S413 and D1S477 was identified in 3 affected individuals, and when combined with previous reports, delineated the HPT-JT region to 14 centimorgan. Combined comparative genomic hybridization and loss of heterozygosity data revealed complex genetic abnormalities in the tumors, suggesting different possible genetic mechanisms for the disease. In conclusion, we report a family with hyperparathyroidism linked to chromosome 1q, and exhibiting several types of renal and endocrine tumors that have not been previously described.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/29. Primary hyperparathyroidism and cutaneous T-cell lymphoma: fortuitous association?This is the third report of an association between T-cell cutaneous lymphoma (mycosis fungoides) and primary hyperparathyroidism (adenoma). Some studies support the concept that hyperparathyroidism may have promotional activity for the development of certain malignant tumors. A high risk for successive or concurrent neoplasms has been reported in patients with parathyroid adenomas. Primary hyperparathyroidism in a neoplastic context may be underreported. patients with tumor-associated hypercalcemia should be evaluated for the possibility of primary hyperparathyroidism.- - - - - - - - - - ranking = 16keywords = neoplasm (Clic here for more details about this article) |
3/29. Metachronous primary hyperparathyroidism due to a parathyroid adenoma and a subsequent carcinoma: report of a case.An extremely rare case of metachronous primary hyperparathyroidism (PHP) due to a parathyroid adenoma and subsequent carcinoma with local lymphatic spread is presented herein. A 55-year-old woman was operated on for a parathyroid adenoma in the right inferior gland. Thirteen years after the first operation, she was again hospitalized for hypercalcemia and the presence of a hard mass in the right anterior neck region. Exploratory surgery and a histological examination of the resected tumor provided evidence of a parathyroid neoplasm in the right superior gland but the malignancy was equivocal. Postoperatively, her serum parathyroid hormone (PTH) level remained at 1.5-fold the upper limit of the normal range, and hypercalcemia again gradually developed. The results of higher positive rates by Ki-67 immunohistochemical staining and an aneuploid pattern by a flow cytometric analysis of the second neoplasm were consistent with a histological diagnosis of carcinoma, and she therefore underwent further surgery. A radical neck dissection revealed two lymph node metastases which were both successfully removed. The postoperative serum PTH and calcium levels then returned to within the normal ranges. These findings indicate the usefulness of Ki-67 immunohistochemical staining and a flow cytometric analysis for differentiating malignant lesions from benign parathyroid lesions, and the importance of surgically treating cases limited to local regions without distant metastasis.- - - - - - - - - - ranking = 32keywords = neoplasm (Clic here for more details about this article) |
4/29. A case of von hippel-lindau disease with bilateral pheochromocytoma, renal cell carcinoma, pelvic tumor, spinal hemangioblastoma and primary hyperparathyroidism.A rare case of von Hippel-Lindau (VHL) disease with bilateral pheochromocytomas, right renal cell carcinoma, right pelvic carcinoma, spinal hemangioblastoma and primary hyperparathyroidism is described. A 78-year-old woman had a history of hypertension from her forties. She suffered from headache and body weight loss. Abdominal CT revealed bilateral adrenal tumors and right external renal tumors enhanced in early stage. MIBG scintigraphy exhibited a high accumulation of tracer in both adrenal glands. On the basis of the radiographic findings and endocrinological results, the patient was diagnosed as having bilateral pheochromocytomas and right renal cell carcinoma. A bilateral adrenectomy was performed, followed by surgery for resection of the renal cell carcinoma. The other resected right kidney showed a clear cell subtype that was determined to be renal cell carcinoma, and proved that the pelvic tumor was transient cell carcinoma. Spinal MRI showed spinal hemangioblastoma. von Hippel-Lindau (VHL) gene mutation for the patient was found. We diagnosed the patient as VHL because of the existence of spinal hemangioma and a VHL disease gene. Parathyroid echo revealed a hypoechoic space on the back of the left lobe, and serum calcium and intact PTH to be elevated. The patient was diagnosed as primary hyperparathyroidism. We report the first case of a patient with VHL disease complicated with bilateral pheochromocytomas, right renal cell carcinoma, right renal pelvic carcinoma and primary hyperparathyroidism. The life expectancy of affected individuals has been less than 50 years. Since the prognosis may be improved by an early diagnosis, affected individuals with VHL complexes should undergo cranial, spinal MRI and abdomen CT. The families may benefit from presymptomatic detection of affected gene carriers and the exclusion of at-risk family members by negative test results.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
5/29. Neurofibromatosis type 1, hyperparathyroidism, and osteosarcoma: interplay?Neurofibromatosis type 1 (NF 1) is a syndrome with a predisposition for benign and malignant tumor development. Of the malignant neoplasms, osteogenic sarcomas are rare but have been described. There are some reports of patients with neurofibromatosis type 1 with a parathyroid adenoma and hyperparathyroidism. Also, there are studies that imply that the parathyroid hormone plays a role in the regulation and modulation of oseogenic sarcomas in vitro. We report about a 50-year-old female suffering from neurofibromatosis type 1, with a 3-year documented history of untreated hyperparathyroidism and a parathyroid adenoma. The patient developed a mandibular osteogenic sarcoma. To our knowledge, this is the first reported case occurring in the mandible. The unusual tumor site for a patient with neurofibromatosis type 1, the conjugation with hyperparathyroidism and the rapid growth of an osteogenic sarcoma are intriguing.- - - - - - - - - - ranking = 16keywords = neoplasm (Clic here for more details about this article) |
6/29. Immunoperoxidase confirmation of ultrasonically guided fine needle aspirates in patients with recurrent hyperparathyroidism.Fine needle aspiration (FNA) biopsy in conjunction with ultrasonic definition of nonpalpable masses in the neck region is being used more frequently. Currently available preoperative localization tests have failed, in many instances, to delineate adequately the location of missed adenomas of the parathyroid gland. We describe herein the use of ultrasonically guided FNA of parathyroid tissue with immunoperoxidase confirmation for precise localization of the diseased gland. Three patients with persistent hypercalcemia after exploration of the neck were referred to Ochsner Clinic, new orleans. In two of these patients, a parathyroid adenoma had been removed, while in one patient no adenoma was found. All patients had elevated calcium (range 10.9 to 11.6 milligrams per deciliter), low phosphorous and elevated parathyroid levels. Preoperative ultrasonography to localize the suspected parathyroid glands was performed, with FNA and immunohistochemical confirmation. Smears confirmed adequate cellular material. Alcohol fixed, Papanicolaou stained and air dried, Wright's and Giemsa stained smears were evaluated for the presence of parathyroid cells by conventional cytologic examination. The Papanicolaou-stained slides were then decolorized in 1 percent hydrochloric acid in 70 percent ethanol. After decolorization, the smears were stained for parathyroid hormone (PTH) in an avidin-biotin complex (ABC) system, using a commercially available ABC kit (Vector laboratories Inc.). The primary antibody is a polyclonal antiserum generated in rabbits against a synthetic human PTH. Negative controls were obtained from normal thyroid glands. In all three patients, the diseased gland was localized by ultrasound with cytologic and immunohistochemical confirmation, one on the right side and two on the left side. At surgical excision, the adenomas weighed 0.8 and 0.75 gram and the carcinoma, 0.75 gram. In two, intraoperative identification of the diseased gland was aided by ultrasound directed methylene blue injection into the adenoma. During a follow-up evaluation of eight to 24 months, serum calcium had remained normal in two patients, and one patient had become hypocalcemic and required calcium supplements. The preoperative localization allowed a direct surgical approach to the side in question in all patients. Ultrasonically guided FNA in an immunoperoxidase system can be a valuable preoperative localization technique for patients with recurrent hyperparathyroidism, thus avoiding extensive exploration of the neck with the subsequent complications.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
7/29. Atypical post-renal transplantation hyperparathyroidism--further support for "removing all enlarged glands".hyperparathyroidism is an important sequela of chronic renal failure, remains a considerable challenge to nephrologists, and can be seen as inevitable in patients undergoing long-term renal replacement therapy. As time with renal disease increases then so does the cumulative risk of hyperparathyroidism, and the eventual need for surgical parathyroidectomy when hyperparathyroidism becomes refractory to medical intervention. parathyroidectomy before dialysis treatment has started, or after successful renal transplantation, is much less commonly performed than when the patient is receiving dialysis. Increasingly the propensity for residual parathyroid tissue left behind (by design or accident) at an initial parathyroidectomy to undergo progressive hyperplasia under the constant stimulus of uremia, and by so doing result in the need for a second, more complex, neck exploration, has increased support for initial total parathyroidectomy for patients on dialysis. The optimal operative procedure for autonomous hyperparathyroidism after successful renal engraftment is however less clearly established. We discuss two very unusual but instructive cases of post renal transplantation autonomous hyperparathyroidism requiring surgical parathyroidectomy. Using these cases as examples we discuss the various surgical options, and discuss the contentious issue of the place for autografting parathyroid tissue.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
8/29. Primary hyperparathyroidism and arrhythmic storm in a patient with an implantable cardioverter defibrillator for primary prevention of sudden death.A case of a patient with an automatic cardioverter defibrillator (ICD) and recurrent ventricular arrhythmic storms related to primary hyperparathyroidism and hypercalcaemia is reported: medical therapy was ineffective and only surgical resection of the parathyroid adenoma resolved this complex clinical condition.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
9/29. breast cancer and concomitant primary hyperparathyroidism: description of two patients.breast cancer is the malignant neoplasm most commonly associated with hypercalcemia. In breast cancer the majority of the hypercalcemia cases result from osteolytic metastatic bone disease of the primary tumor. In a few patients hypercalcemia results from other conditions like primary hyperparathyroidism. Here, we present two female patients who were treated for breast cancer. hypercalcemia in these two patients was diagnosed as being due to primary hyperparathyroidism. One of them was submitted to surgery and the calcium level dropped to the normal level thereafter. The other one refused surgery and was treated with biphosphonate and calcitonin. We suggest that when hypercalcemia occurs in breast cancer, primary hyperparathyroidism should be considered as possible cause.- - - - - - - - - - ranking = 16keywords = neoplasm (Clic here for more details about this article) |
10/29. Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.CONTEXT: Mutations of the HRPT2 gene have recently been implicated in the development of parathyroid carcinoma. OBJECTIVE: The objective of this study was early diagnosis of parathyroid tumor in a family with germline HRPT2 mutation. patients, methods, AND RESULTS: In a 40-yr-old male previously treated for parathyroid atypical adenoma, we screened the 17 translated HRPT2 exons and their exon-intron boundaries and found a germline frameshift mutation in exon 7 (685delAGAG) predicting a premature stop codon at nucleotides 767-769. Nine family members (age, 33.9 /- 19.8 yr, mean /- SD) also carry the mutation, but eight have had normal serum calcium. Biochemical and ultrasonographic evaluation uncovered a 27-yr-old hypercalcemic carrier niece with an atypical parathyroid adenoma, and a 43-yr-old normocalcemic carrier sister was found by ultrasonography to have an extrathyroidal nodule, which proved to be parathyroid carcinoma. The index case, 12 yr after surgery, was normocalcemic, but ultrasonography revealed an extrathyroidal nodule in the contralateral hemithyroid tissue that proved to be atypical adenoma. CONCLUSIONS: Our report confirms that germline mutations of HRPT2 gene may be associated with multiple parathyroid neoplasms. Our experience suggests that longitudinal surveillance by serum biochemistry alone may not be 100% sensitive, and addition of routine neck ultrasonography is a readily accepted adjunct that may facilitate earlier disease detection in some families.- - - - - - - - - - ranking = 16keywords = neoplasm (Clic here for more details about this article) |
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