Parathyroid carcinoma in multiple endocrine neoplasia type 1. Case report and review of the literature

Pozo, Carlos del; García-Pascual, Luis; Balsells, Montserrat; Barahona, María José; Veloso, E; González, Clarisa; Anglada-Barceló, Jordi

doi:10.14310/horm.2002.1325

Cited by 44 publications

(43 citation statements)

References 22 publications

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“…On the one hand, some studies indicate that 10-15% of parathyroid adenomas in patients with HPT-JT progress to cancer. On the other hand, somatic gene mutations of HRPT2/CDC73 are present in 66-100% of sporadic parathyroid carcinomas and occur sparsely in adenomas [17,[23][24][25]. Moreover, Svedlund et al [26] reported that EZH2 gene amplification (an oncogene, the histone 3 lysine 27 methyltransferase) is a genetic aberration common to parathyroid tumours.…”

Section: Aetiology Of Parathyroid Cancermentioning

confidence: 99%

“…MEN 1 syndrome is associated with germline MEN1 tumour suppressor gene mutation and includes the combination of neoplasms located most commonly in the parathyroid glands, the anterior pituitary gland, and the pancreas [24,27]. In the classic forms of MEN 1, hyperparathyroidism is usually the earliest clinical presentation [28].…”

Section: Aetiology Of Parathyroid Cancermentioning

confidence: 99%

“…However, some patients with benign tumours present with more severe symptoms of primary hyperparathyroidism than those with malignancy [11,24,49]. Therefore, it is sometimes extremely difficult to distinguish parathyroid adenoma from parathyroid cancer and it is not possible to diagnose PC before operation [5,14,16].…”

Section: Prace Poglądowementioning

confidence: 99%

“…• Severe pancreatitis or peptic ulcer disease PRACE POGLĄDOWE [13,24,47]. If the diagnosis of PC is made after surgery, re-exploration of the neck with resection of tissues contiguous to the tumour should be performed [16].…”

Section: Surgical Treatmentmentioning

confidence: 99%

“…Special care must be taken to avoid disruption of the tumour capsule during operation to prevent seeding of the cancer cells [6,11,16]. In cases of recurrence, ipsilateral laryngeal, jugular, and carotid lymph nodes as well as pretracheal adipose tissue should be removed [18,24]. Surgery is also a recommended therapy in subjects with metastatic disease, especially when single metastases occur [1,5,9].…”

Section: Surgical Treatmentmentioning

confidence: 99%

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Pierwotna nadczynność przytarczyc w przebiegu raka przytarczyc — wyzwanie diagnostyczne i terapeutyczne

Dabrowska

Tarach

Zwolak

2015

Endokrynologia Polska

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Parathyroid carcinoma (PC) is a rare endocrine malignancy and the cause of primary hyperparathyroidism. It is usually associated with a high rate of local and distant recurrence. Laboratory findings and clinical symptoms may be similar to those in parathyroid adenoma. The histological features of PC may also be non-specific and the affected gland is often indistinguishable from a benign lesion. The proper diagnosis is commonly made months to years later when the disease recurs or metastases are present. Therefore, parathyroid carcinoma still remains a diagnostic and management challenge for many physicians. However, there are some features that, in combination, may help in diagnosis. Surgery still remains the only curative treatment, even in metastatic disease. In advanced, non-operable subjects, managing hypercalcaemia and controlling a tumour are the main goals. Morbidity is caused by hypercalcaemia rather than metastases. A multidisciplinary approach with experienced endocrinologists, pathologists, radiologists, nuclear medicine doctors, oncologists, and surgeons is needed to optimize patient outcome. StreszczenieRak przytarczyc (PC) jest rzadkim nowotworem złośliwym układu wewnątrzwydzielniczego, a także rzadką przyczyną pierwotnej nadczynności przytarczyc. Zazwyczaj wiąże się z wysokim odsetkiem miejscowych i odległych przerzutów. Wyniki badań laboratoryjnych i objawy kliniczne mogą przypominać te spotykane w przebiegu gruczolaków przytarczyc. Równie niespecyficzny jest obraz histopatologiczny raka przytarczyc, co powoduje trudności w diagnostyce różnicowej ze zmianami łagodnymi, będącymi gruczolakami. Właściwe rozpoznanie często jest stawiane z kilkumiesięcznym lub kilkuletnim opóźnieniem, w oparciu o nawrót choroby lub pojawiające się przerzuty. Mając na uwadze ten fakt, rak przytarczyc ciągle pozostaje wyzwaniem diagnostycznym i terapeutycznym dla wielu specjalistów. Jakkolwiek, wyróżnia się jednak pewne objawy, których obecność może pomóc w postawieniu właściwej diagnozy. Leczenie chirurgiczne pozostaje nadal jedyną skuteczną opcją terapeutyczną, nawet w sytuacji pojawienia się zmian przerzutowych. W zaawansowanych, nieoperacyjnych przypadkach głównym celem leczenia pozostaje obniżanie stężenia wapnia we krwi i kontrola wielkości guza. Śmiertelność związana z rakiem przytarczyc wynika raczej z hiperkalcemii, niż obecności przerzutów. W celu poprawy wyników leczenia, niezbędne jest podejście wielodyscyplinarne oraz współdziałanie wielu doświadczonych specjalistów: endokrynologów, patologów, radiologów, medyków nuklearnych, onkologów i chirurgów.

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Section: Aetiology Of Parathyroid Cancermentioning

confidence: 99%

Section: Aetiology Of Parathyroid Cancermentioning

confidence: 99%

Section: Prace Poglądowementioning

confidence: 99%

Section: Surgical Treatmentmentioning

confidence: 99%

Section: Surgical Treatmentmentioning

confidence: 99%

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Pierwotna nadczynność przytarczyc w przebiegu raka przytarczyc — wyzwanie diagnostyczne i terapeutyczne

Dabrowska

Tarach

Zwolak

2015

Endokrynologia Polska

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Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma

2017

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Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an isolated (i.e., non‐syndromic) non‐hereditary (i.e., sporadic) endocrinopathy. Studies of hereditary and syndromic forms of PC, which include the hyperparathyroidism‐jaw tumor syndrome (HPT‐JT), multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2), and familial isolated primary hyperparathyroidism (FIHP), have revealed some genetic mechanisms underlying PC. Thus, cell division cycle 73 (CDC73) germline mutations cause HPT‐JT, and CDC73 mutations occur in 70% of sporadic PC, but in only ∼2% of parathyroid adenomas. Moreover, CDC73 germline mutations occur in 20%–40% of patients with sporadic PC and may reveal unrecognized HPT‐JT. This indicates that CDC73 mutations are major driver mutations in the etiology of PCs. However, there is no genotype–phenotype correlation and some CDC73 mutations (e.g., c.679_680insAG) have been reported in patients with sporadic PC, HPT‐JT, or FIHP. Other genes involved in sporadic PC include germline MEN1 and rearranged during transfection (RET) mutations and somatic alterations of the retinoblastoma 1 (RB1) and tumor protein P53 (TP53) genes, as well as epigenetic modifications including DNA methylation and histone modifications, and microRNA misregulation. This review summarizes the genetics and epigenetics of the familial syndromic and non‐syndromic (sporadic) forms of PC.

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Clinical Manifestations of Multiple Endocrine Neoplasia, Type 1

Yuditskaya

Skarulis

2014

Management of Pancreatic Neuroendocrine Tumors

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Parathyroid carcinoma in multiple endocrine neoplasia type 1. Case report and review of the literature

Cited by 44 publications

References 22 publications

Pierwotna nadczynność przytarczyc w przebiegu raka przytarczyc — wyzwanie diagnostyczne i terapeutyczne

Pierwotna nadczynność przytarczyc w przebiegu raka przytarczyc — wyzwanie diagnostyczne i terapeutyczne

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma

Clinical Manifestations of Multiple Endocrine Neoplasia, Type 1

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