Insulin-producing tumor of pancreas in a young patient: the search for germline mutations. Clinical case

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Abstract

Insulinoma is the most common functioning tumor of the pancreas. Approximately 5% of cases of the disease is associated with the syndrome of multiple endocrine neoplasia type 1 (MEN-1), caused by mutation in the gene MEN1. The MEN-1 is manifested by pituitary adenomas and adenomas of parathyroid glands, pancreatic neuroendocrine tumors, tumors of thyroid gland, adrenal glands, intestine, carcinoids of lungs and other organs. Patients with MEN-1 often have angiofibromas, collagenomas and lipomas. However, in 5-10% of patients with clinical manifestations of this syndrome, mutations in MEN1 cannot be detected. In such cases, the disease can be caused by various disorders (mutations, polymorphisms, etc.) in other genes. More than 10 genes, associated with insulin-producing pancreatic tumor, are described in the literature. In the presented clinical case, an extended genetic study was performed in a young patient with insulinoma and a suspicious phenotype of MEN-1. The article emphasizes the need to search for new genetic markers that predispose to the development of insulinoma, and the subsequent introduction of panel of genes sequencing in such patients. Genetic testing is indicated primarily for young patients with multifocal lesions, family history and associated pathology.

About the authors

Marina Yu. Yukina

Endocrinology Research Centre

Email: kuronova@yandex.ru
Cand. Sci. (Med.) Moscow, Russia

Nurana F. Nuralieva

Endocrinology Research Centre

Res. Officer Moscow, Russia

Ekaterina A. Troshina

Endocrinology Research Centre

Corr. Memb. RAS, D. Sci. (Med.), Full Prof. Moscow, Russia

Ayrat R. Kaldarov

A.V.Vishnevsky National Medical Center of Surgery

Cand. Sci. (Med.) Moscow, Russia

Tatjana V. Soldatova

Endocrinology Research Centre

Cand. Sci. (Med.) Moscow, Russia

Alexander V. Vorontsov

Endocrinology Research Centre

D. Sci. (Med.), Full Prof. Moscow, Russia

Victoria P. Vladimirova

Endocrinology Research Centre

Cand. Sci. (Med.) Moscow, Russia

Natalya V. Tarbaeva

Endocrinology Research Centre

Cand. Sci. (Med.) Moscow, Russia

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