New Regions With Molecular Alterations in a Rare Case of Insulinomatosis: Case Report With Literature Review

Insulinomatosis is characterized by monohormonality of multiple macro-tumors and micro-tumors that arise synchronously and metachronously in all regions of the pancreas, and often recurring hypoglycemia. One of the main characteristics of insulinomatosis is the presence of insulin-expressing monohor...

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Published in:Frontiers in endocrinology (Lausanne) 2021-10, Vol.12, p.760154-760154
Main Authors: Anoshkin, Kirill, Vasilyev, Ivan, Karandasheva, Kristina, Shugay, Mikhail, Kudryavtseva, Valeriya, Egorov, Alexey, Gurevich, Larisa, Mironova, Anna, Serikov, Alexey, Kutsev, Sergei, Strelnikov, Vladimir
Format: Article
Language:English
Subjects:
Aged
CEBPA
copy number variation
DNA Copy Number Variations
Endocrinology
FOXL2
Humans
Insulinoma - genetics
Insulinoma - pathology
insulinomatosis
IRS2
Male
Middle Aged
neuroendocrine tumors
Pancreas - pathology
Pancreatic Neoplasms - genetics
Pancreatic Neoplasms - pathology
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Summary:Insulinomatosis is characterized by monohormonality of multiple macro-tumors and micro-tumors that arise synchronously and metachronously in all regions of the pancreas, and often recurring hypoglycemia. One of the main characteristics of insulinomatosis is the presence of insulin-expressing monohormonal endocrine cell clusters that are exclusively composed of proliferating insulin-positive cells, are less than 1 mm in size, and show solid islet-like structure. It is presumed that insulinomatosis affects the entire population of β-cells. With regards to molecular genetics, this phenomenon is not related to mutation in gene and is more similar to sporadic benign insulinomas, however, at the moment molecular genetics of this disease remains poorly investigated. NGS sequencing was performed with a panel of 409 cancer-related genes. Results of sequencing were analyzed by bioinformatic algorithms for detecting point mutations and copy number variations. DNA copy number variations were detected that harbor a large number of genes in insulinoma and fewer genes in micro-tumors. qPCR was used to confirm copy number variations at , , and genes. Copy number alterations involving , , and genes were observed in insulinoma as well as in micro-tumors samples, suggesting that alterations of these genes may promote malignization in the β-cells population.
ISSN:1664-2392
1664-2392
DOI:10.3389/fendo.2021.760154