Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas

The Journal of Clinical Endocrinology and Metabolism
Urs D LichtenauerFelix Beuschlein

Abstract

Insulinomas represent pancreatic neuroendocrine neoplasms that cause severe morbidity attributed to their often pronounced endocrine activity. Apart from hereditary forms such as multiple endocrine neoplasia type 1 (MEN-1), genetic causes for sporadic insulinoma development had remained obscure until recently. Applying next-generation sequencing methods, disease-causing genetic alterations have been identified in various endocrine tumors. Paired tumor and blood DNA from eight patients with sporadic insulinomas (five females and two malignant tumors) were analyzed by whole-exome sequencing. After this initial analysis, Ying Yang 1 (YY1) mutation status was assessed in a larger cohort of 39 additional insulinomas (including eight malignant and one liver metastasis) from three German hospitals by targeted sequencing. The mutation status was correlated with various clinical parameters. A range of one to 12 somatic genetic variants were identified by exome sequencing. A recurrent somatic Thr372Arg YY1 point mutation was detected in two patients of the initial cohort and four patients of the second cohort (total, six of 47; 13%). The presence of the mutation was associated with a trend toward higher age (63.5 y; IQR, 48.0-74.0 vs 45....Continue Reading

Citations

Mar 15, 2016·Best Practice & Research. Clinical Endocrinology & Metabolism·Marianna Minnetti, Ashley Grossman
May 12, 2016·European Journal of Endocrinology·Joakim Crona, Britt Skogseid
May 2, 2017·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Padmanaban S SureshAbhishek Shetty
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Mar 12, 2021·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Yu-Li SongYuan-Jia Chen

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