Korean J Endocr Surg.  2015 Dec;15(4):99-102. 10.16956/kaes.2015.15.4.99.

A Novel Germline Mutation of MEN1 Gene in a Young-aged Multiple Insulinoma with Hyperparathyroidism

• Park YJ

• KMID: 2308577
• DOI: http://doi.org/10.16956/kaes.2015.15.4.99

Abstract

Multiple endocrine neoplasia type 1 is an autosomal dominant disease caused by the MEN1 germline mutation. A 25-year-old male was admitted for loss of consciousness. Initial laboratory data showed hypoglycemia and hypercalcemia. The image study showed two insulinoma in the pancreas head and body. MIBI scan was positive in the left lower parathyroid gland. After diagnosis of insulinoma and hyperparathyroidism, MEN1 was suspected, but there was no family history of endocrine disease. Enucleation of the insulinoma in the pancreatic head and body was performed. After the operation, the blood sugar level was normalized and no hypoglycemic symptoms were observed. Testing of germline mutations of the MEN1 gene was performed by direct DNA sequence analysis after obtaining informed consent. In the genetic study, a frameshift mutation was found in exon 2 which deleted 16 nucleic acids (c.326_341del16) and resulted in a truncation at codon 113. This mutation was not reported previously. We found a novel and de novo mutation of the MEN1 gene. Genetic study is necessary in case of young-age, multiple endocrine tumors.

Keyword

Multiple Endocrine Neoplasia Type 1; Insulinoma; Hyperparathyroidism

MeSH Terms

Adult
Blood Glucose
Codon
Diagnosis
Endocrine System Diseases
Exons
Frameshift Mutation
Germ-Line Mutation*
Head
Humans
Hypercalcemia
Hyperparathyroidism*
Hypoglycemia
Informed Consent
Insulinoma*
Male
Multiple Endocrine Neoplasia Type 1*
Nucleic Acids
Pancreas
Parathyroid Glands
Sequence Analysis, DNA
Unconsciousness
Blood Glucose
Codon
Nucleic Acids

Figure

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  Fig. 1. Abdominal CT shows 2cm sized low attenuated mass in pancreatic head (arrow).

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  Fig. 2. Celiac angiography shows hypervascular masses in pancreatic head and body (arrows).

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  Fig. 3. Delayed Tc-99m MIBI parathyroid scan shows left upper parathyroid mass (arrow).

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  Fig. 4. Genetic test of MEN1 gene detected a frameshift mutation of 16 nucleic acids deletions in exon 2 (box). It resulted in a truncation of MENIN protein at codon 113. Mutation began at the 326th nucleic acid (arrow).

Reference

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