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01.09.2009 | Current concepts in Endocrine Surgery | Ausgabe 5/2009

Langenbeck's Archives of Surgery 5/2009

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

Zeitschrift:
Langenbeck's Archives of Surgery > Ausgabe 5/2009
Autoren:
Maurizio Iacobone, Giulia Masi, Luisa Barzon, Andrea Porzionato, Veronica Macchi, Francesco Antonio Ciarleglio, Giorgio Palù, Raffaele De Caro, Giovanni Viel, Gennaro Favia
Wichtige Hinweise
Best of Endocrine Surgery in Europe 2009

Abstract

Background

Hyperparathyroidism–jaw tumor syndrome (HPT–JT) is a rare autosomal disease caused by inactivating germ-line mutations of HRPT2 gene, with subsequent loss of Parafibromin expression. It is characterized by familial HPT, ossifying jaw tumors, and other associated neoplasms.

Methods

Clinical, histopathological, and genetic features of three large Italian unrelated HPT–JT kindred were assessed.

Results

Three different germ-line HRPT2 inactivating mutations were identified. Seventeen affected members and six healthy mutation carriers were found. HPT was diagnosed in virtually all affected patients, at a median age of 36.3 years (range 11–71). In all cases, a single parathyroid involvement was found at surgery, although a metachronous multiglandular involvement causing recurrence after selective parathyroidectomy occurred in 17.6% of cases, after a mean disease-free interval of 13.7 years (range 5–27). Parathyroid carcinoma, atypical parathyroid adenoma, and jaw tumor occurred in one case; uterine involvement in 61.5% of women; other associated neoplasms were thyroid carcinoma (two cases) and renal and colon carcinoma (one case). Immunohistochemistry confirmed the loss of Parafibromin as the distinctive feature of the disease both in parathyroid and uterine tumors.

Conclusions

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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