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Genetics of parathyroid tumours
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| Zeitschriftentitel: | Journal of Internal Medicine |
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| Personen und Körperschaften: | |
| In: | Journal of Internal Medicine, 280, 2016, 6, S. 574-583 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| Zusammenfassung: | <jats:title>Abstract</jats:title><jats:p>Primary hyperparathyroidism (<jats:styled-content style="fixed-case">PHPT</jats:styled-content>), due to parathyroid tumours, may occur as part of a complex syndrome or as an isolated (nonsyndromic) disorder, and both forms can occur as familial (i.e. hereditary) or nonfamilial (i.e. sporadic) disease. Syndromic <jats:styled-content style="fixed-case">PHPT</jats:styled-content> includes multiple endocrine neoplasia (<jats:styled-content style="fixed-case">MEN</jats:styled-content>) types 1 to 4 (<jats:styled-content style="fixed-case">MEN</jats:styled-content>1 to <jats:styled-content style="fixed-case">MEN</jats:styled-content>4) and the hyperparathyroidism‐jaw tumour (<jats:styled-content style="fixed-case">HPT</jats:styled-content>‐<jats:styled-content style="fixed-case">JT</jats:styled-content>) syndrome. Syndromic and hereditary <jats:styled-content style="fixed-case">PHPT</jats:styled-content> are often associated with multiple parathyroid tumours, in contrast to sporadic <jats:styled-content style="fixed-case">PHPT</jats:styled-content>, in which single parathyroid adenomas are more common. In addition, parathyroid carcinomas may occur in ~15% of patients with the <jats:styled-content style="fixed-case">HPT</jats:styled-content>‐<jats:styled-content style="fixed-case">JT</jats:styled-content> syndrome. <jats:styled-content style="fixed-case">MEN</jats:styled-content>1 is caused by abnormalities of the <jats:italic><jats:styled-content style="fixed-case">MEN</jats:styled-content>1</jats:italic> gene which encodes a tumour suppressor; <jats:styled-content style="fixed-case">MEN</jats:styled-content>2 and <jats:styled-content style="fixed-case">MEN</jats:styled-content>3 are due to mutations of the rearranged during transfection (<jats:italic><jats:styled-content style="fixed-case">RET</jats:styled-content></jats:italic>) proto‐oncogene, which encodes a tyrosine kinase receptor; <jats:styled-content style="fixed-case">MEN</jats:styled-content>4 is due to mutations of a cyclin‐dependent kinase inhibitor (<jats:italic><jats:styled-content style="fixed-case">CDNK</jats:styled-content>1B</jats:italic>); and <jats:styled-content style="fixed-case">HPT</jats:styled-content>‐<jats:styled-content style="fixed-case">JT</jats:styled-content> is due to mutations of cell division cycle 73 (<jats:italic><jats:styled-content style="fixed-case">CDC</jats:styled-content>73</jats:italic>), which encodes parafibromin. Nonsyndromic <jats:styled-content style="fixed-case">PHPT</jats:styled-content>, which may be hereditary and referred to as familial isolated hyperparathyroidism, may also be due to <jats:italic><jats:styled-content style="fixed-case">MEN</jats:styled-content>1, <jats:styled-content style="fixed-case">CDC</jats:styled-content>73</jats:italic> or calcium‐sensing receptor (<jats:italic><jats:styled-content style="fixed-case">CASR</jats:styled-content></jats:italic>) mutations. In addition, ~10% of patients presenting below the age of 45 years with nonsyndromic, sporadic <jats:styled-content style="fixed-case">PHPT</jats:styled-content> may have <jats:italic><jats:styled-content style="fixed-case">MEN</jats:styled-content>1</jats:italic>,<jats:italic> <jats:styled-content style="fixed-case">CDC</jats:styled-content>73</jats:italic> or <jats:italic><jats:styled-content style="fixed-case">CASR</jats:styled-content></jats:italic> mutations, and overall more than 10% of patients with <jats:styled-content style="fixed-case">PHPT</jats:styled-content> will have a mutation in one of 11 genes. Genetic testing is available and of value in the clinical setting, as it helps in making the correct diagnosis and planning the management of these complex disorders associated with parathyroid tumours.</jats:p> |
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| Umfang: | 574-583 |
| ISSN: |
1365-2796
0954-6820 |
| DOI: | 10.1111/joim.12523 |