Das familiäre Nebenschilddrüsenkarzinom

Gimm, Oliver; Lorenz, Kerstin; Thanh, Phuong Nguyen; Schneyer, U; Bloching, M.; Howell, Viive M.; Marsh, Deborah J.; Teh, Bin Tean; Krause, U.; Dralle, Henning

doi:10.1007/s00104-005-1110-2

Cited by 16 publications

(6 citation statements)

References 49 publications

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“…In HPT-JT patients with HPT, long periods of postsurgical normocalcaemia could be documented; therefore, selective parathyroidectomy may be an effective strategy, but long-term follow-up is necessary (19). In our patients, predominantly single parathyroid adenomas were detected at the primary operation.…”

Section: Clinical Findingsmentioning

confidence: 72%

CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum

Frank‐Raue¹,

Haag²,

Schulze³

et al. 2011

European Journal of Endocrinology

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Objective: Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant cause of benign and malignant parathyroid tumours, ossifying jaw tumours, various cystic and neoplastic renal abnormalities and benign and malignant uterine tumours. Disease-causing mutations have been localised in the tumour suppressor gene CDC73. There is limited information available on the mutations, and resulting phenotypes and long-term follow-up data are especially scarce. Design: We analysed the clinical data from 16 patients (including three families) carrying mutations in the CDC73 gene. We describe five new mutations/gene variants, the corresponding phenotypes of these carriers and the long-term follow-up. Methods: The 16 patients were evaluated at an endocrine outpatient clinic and at a surgical department. DNA samples were obtained for sequence analysis of the CDC73 gene. Results: Clinical features of HPT-JT syndrome were detected in 13 of the 15 carriers with germline CDC73 mutations. The major features were benign (nZ7; 47%) or cancerous (nZ3; 20%) HPT-JT was present in eight cases (53%). Most patients had severe hypercalcaemia, and median serum calcium levels were 3.36 mmol/l. A patient with non-secretory parathyroid carcinoma was included. HPT was diagnosed at a median age of 28.5 years. Mutational analysis of the CDC73 gene identified eight sequence changes, three of them have been reported previously, whereas five are novel: c.1346delG, c.88_94delTTCTCCT, the non-coding variants, c.307C5GOT and c.424K5TOC and c.*12COA of unknown significance. Conclusions: This study significantly increases the information available on the mutations and phenotypes of HPT-JT syndrome.

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Section: Clinical Findingsmentioning

confidence: 72%

CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum

Frank‐Raue¹,

Haag²,

Schulze³

et al. 2011

European Journal of Endocrinology

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“…At variance, other authors have suggested extensive parathyroidectomy in order to prevent the risk of recurrences and parathyroid carcinoma [16,36,37]. Parathyroid malignancies may occur more frequently in HPT-JT; a rate of 24.3% has been reported by recent literature (Table 2) [2][3][4]6,9,10,[16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34], although it may be overestimated since most papers focused prevalently on parathyroid carcinoma. In our experience, parathyroid carcinoma and/or atypical adenoma occurred only in two patients; in these cases, affected glands were significantly larger than typical adenomas, confirming that size might be useful to suspect malignancy preoperatively also in these setting.…”

Section: Discussionmentioning

confidence: 85%

“…HPT-JT has been classically described as a more aggressive disease with frequent multiglandular involvement (45-75%), increased risk of persistence and recurrences (20-50%), and parathyroid carcinoma (10-40%) compared with sporadic HPT [4,22,36,37], suggesting extensive parathyroidectomy, but these data derive from mixed populations of patients possibly, including misdiagnosed cases of MEN, as the majority of these studies were conducted before the identification of the HRPT2 gene. Following the identification of HRPT2 mutations, an increasing number of cases of single-gland involvement, a lower recurrence rate, a lower risk of parathyroid carcinoma, and long-term cure after limited parathyroidectomy have been reported [38,39]; however, the optimal treatment remains controversial.…”

Section: Discussionmentioning

confidence: 95%

“…We performed a review of the most recent literature (papers published since the identification of the putative gene in 2002 to date, and focusing on HRPT2-related HPT) [2][3][4]6,9,10,[16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34]; at least 245 cases from 63 families have been reported; mandibular or maxillary involvement has been reported only in 27.5% of cases (Table 2). Since the jaw tumor is evident only in a minority of cases, this disease might be named "HRPT2-related HPT", according to genetic criteria instead of clinical ones [35].…”

Section: Discussionmentioning

confidence: 99%

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Hyperparathyroidism–jaw tumor syndrome: a report of three large kindred

Iacobone

Masi

Barzon

et al. 2009

Langenbecks Arch Surg

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HPT-JT has a frequent single-gland parathyroid involvement and a relatively increased risk of parathyroid carcinoma. The penetrance of the disease is high but incomplete. Regardless of the denomination of the syndrome, jaw tumors occur rarely, while uterine involvement is frequently present. Selective parathyroidectomy may be an effective strategy, but a prolonged follow-up is required because of the risk of recurrences and malignancies. A systematic investigation is also required because of associated malignancies.

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“…Weniger als 1% aller Patienten mit einem primären Hyperparathyreoidismus haben ein Nebenschilddrüsen-karzinom, familiäre Nebenschilddrüsen-karzinome machen wahrscheinlich weniger als 5% aller Nebenschilddrüsenkarzi-nome aus [11].…”

Section: Nebenschilddrüsenkarzinomunclassified

Lymphadenektomie beim Schilddrüsen- und Nebenschilddrüsenkarzinom

Gimm

Dralle

2007

Chirurg

Self Cite

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In general, primary surgery of thyroid carcinoma should consist of total thyroidectomy and lymph node dissection of the cervicocentral compartment. Exceptions are cases of papillary microcarcinoma and prophylactic surgery due to multiple type 2A endocrine neoplasia. Lymph node dissection beyond the cervicocentral compartment also should be compartment-oriented. It is generally indicated if lymph node metastases have been proven. Concerning clinically proven medullary thyroid carcinoma, bilateral cervicolateral lymph node dissection is generally indicated, since lymph node metastases may be missed preoperatively but are often found histologically. In patients with parathyroid carcinoma, en bloc ipsilateral cervicocentral lymph node dissection should be performed in addition to parathyroidectomy and hemithyroidectomy. Lymph node dissection should always be performed systematically, since lymph node metastases may be missed both clinically and by imaging techniques.

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Das familiäre Nebenschilddrüsenkarzinom

Cited by 16 publications

References 49 publications

CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum

CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum

Hyperparathyroidism–jaw tumor syndrome: a report of three large kindred

Lymphadenektomie beim Schilddrüsen- und Nebenschilddrüsenkarzinom

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