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      Puesta al día: carcinoma paratiroideo Translated title: An update on parathyroid carcinoma

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          Translated abstract

          Parathyroid carcinoma is a rare malignant disease that presents as a sporadic or familial primary hyperparathyroidism (PHP). The latter is associated with some genetic syndromes. It occurs with equal frequency in both sexes, unlike PHP caused by parathyroid adenoma that is more common in women. It should be suspected in cases of severe hypercalcemia, with high parathyroid hormone levels and a palpable cervical mass. Given the difficulty in distinguishing between parathyroid carcinoma and adenoma prior to the surgery, the diagnosis is often made after parathyroidectomy. The only curative treatment is complete surgical resection with oncologic block resection of the primary tumor to ensure free margins. Adjuvant therapies with chemotherapy or radiation therapy do not modify overall or disease-free survival. Recurrences are common and re-operation of resectable recurrent disease is recommended. The palliative treatment of symptomatic hypercalcemia is crucial in persistent or recurrent disease after surgery since morbidity and mortality are more associated with hypercalcemia than with tumor burden.

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          Most cited references44

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          Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.

          We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic parathyroid carcinoma because germ-line inactivating HRPT2 mutations have been found in a type of familial hyperparathyroidism--hyperparathyroidism-jaw tumor (HPT-JT) syndrome--that carries an increased risk of parathyroid cancer. We directly sequenced the full coding and flanking splice-junctional regions of the HRPT2 gene in 21 parathyroid carcinomas from 15 patients who had no known family history of primary hyperparathyroidism or the HPT-JT syndrome at presentation. We also sought to confirm the somatic nature of the identified mutations and tested the carcinomas for tumor-specific loss of heterozygosity at HRPT2. Parathyroid carcinomas from 10 of the 15 patients had HRPT2 mutations, all of which were predicted to inactivate the encoded parafibromin protein. Two distinct HRPT2 mutations were found in tumors from five patients, and biallelic inactivation as a result of a mutation and loss of heterozygosity was found in one tumor. At least one HRPT2 mutation was demonstrably somatic in carcinomas from six patients. Unexpectedly, HRPT2 mutations in the parathyroid carcinomas of three patients were identified as germ-line mutations. Sporadic parathyroid carcinomas frequently have HRPT2 mutations that are likely to be of pathogenetic importance. Certain patients with apparently sporadic parathyroid carcinoma carry germ-line mutations in HRPT2 and may have the HPT-JT syndrome or a phenotypic variant. Copyright 2003 Massachusetts Medical Society
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            Parathyroid carcinoma: update and guidelines for management.

            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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              Parathyroid carcinoma: a 22-year experience.

              Because parathyroid carcinoma is rare, clear consensus is not available regarding the optimal management of patients with this condition. Treatment strategies generally derive from clinical and anecdotal experiences. We report our experience with this entity. We included all patients with parathyroid carcinoma seen at The University of Texas M. D. Anderson Cancer Center since January 1, 1980. The medical records and pathology specimens were reviewed and verified in all cases. Since 1980, 27 patients (16 men and 11 women) registered at M. D. Anderson Cancer Center with parathyroid carcinoma and a minimum follow-up of 2 years. The age at initial diagnosis (mean +/- SD) was 46.7 +/- 15.3 years. All patients were seen with hypercalcemia (mean calcium, 13.4 +/- 1.5 mg/dL). Eighteen patients had locally invasive disease, eight had localized disease, and one had distant metastasis. Parathyroid cancer was treated with complete surgical excision with curative intent in 18 patients. In the other nine patients, who had clinical and/or radiographic evidence of soft tissue extension, the tumor was treated by comprehensive "en bloc" soft tissue resection. Of six patients who received adjuvant radiotherapy after initial surgery, only one had a local relapse. In contrast, of 20 patients who did not receive adjuvant radiotherapy, 10 had a local relapse, excluding the one patient who had distant metastases. The 5-year survival was 85%, and the 10-year survival was 77%. Five patients died of parathyroid carcinoma; all deaths were hypercalcemia related. Parathyroid carcinoma can be an indolent disease with morbidity and mortality related to hypercalcemia. Adjuvant radiotherapy may improve local control and limit the occurrence of local relapse. A comprehensive multidisciplinary approach with surgery, radiation therapy, and medical treatment for hypercalcemia is needed to optimize patient outcome. Copyright 2004 Wiley Periodicals, Inc.
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                Author and article information

                Journal
                rmc
                Revista médica de Chile
                Rev. méd. Chile
                Sociedad Médica de Santiago (Santiago, , Chile )
                0034-9887
                March 2021
                : 149
                : 3
                : 399-408
                Affiliations
                [2] Santiago orgnameHospital Clínico Universidad de Chile Chile
                [1] Santiago Santiago de Chile orgnameClínica Las Condes Chile
                [3] orgnameUniversidad de los Andes orgdiv1Facultad de Medicina orgdiv2Clínica Universidad de los Andes Chile
                [5] Santiago orgnameClínica Alemana Chile
                [9] Santiago Santiago de Chile orgnamePontificia Universidad Católica de Chile orgdiv1Departamento de Endocrinología Chile
                [14] Santiago orgnameHospital Clínico Universidad de Chile orgdiv1Departamento Radiología Chile
                [4] Concepción Bío-Bío orgnameUniversidad de Concepción orgdiv1Facultad de Medicina orgdiv2Escuela de Medicina Chile
                [12] Santiago orgnameUnidad de Anatomía Patológica orgdiv1Hospital San Juan de Dios Chile
                [7] Santiago orgnameHospital Barros Luco orgdiv1Departamento de Cirugía Cabeza y Cuello y Maxilofacial Chile
                [8] Santiago orgnameClínica Dávila orgdiv1Departamento de Endocrinología Chile
                [11] Santiago Santiago de Chile orgnamePontificia Universidad Católica de Chile orgdiv1Departamento de Anatomía Patológica Chile
                [6] Santiago Santiago de Chile orgnameUniversidad Finis Terrae orgdiv1Departamento de Cirugía Chile
                [13] Santiago orgnameClínica Indisa Chile
                [10] Santiago orgnameHospital Dipreca Chile
                Article
                S0034-98872021000300399 S0034-9887(21)14900300399
                10.4067/s0034-98872021000300399
                34479319
                fbe21d90-8f55-4f42-bc9e-bf9ca2f5f515

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                History
                : 05 October 2020
                : 29 May 2020
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 49, Pages: 10
                Product

                SciELO Chile

                Categories
                ARTICULOS DE REVISION

                Hypercalcemia,Hyperparathyroidism,Parathyroid Neoplasms,Diagnosis

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