J Korean Soc Endocrinol.  2005 Feb;20(1):71-77. 10.3803/jkes.2005.20.1.71.

A Case of Multiple Endocrine Neoplasia Type 1 with Mutation in MENIN Gene

• Park SE
• Kang ES
• Lee HJ
• Kim SH
• Do MY
• Kang SA
• Han SJ
• Kim HJ
• Ahn CW
• Cha BS
• Lim SK
• Kim KR
• Kim IJ
• Lee HC

• KMID: 2100455
• DOI: http://doi.org/10.3803/jkes.2005.20.1.71

Abstract

Multiple endocrine neoplasia type 1(MEN 1) is an autosomal dominantly inherited syndrome, characterized by the combined occurrence of tumors of the parathyroid glands, endocrine pancreas, and anterior pituitary gland. The MENIN gene, which is a kind of tumor suppressor gene, is located at the chromosomal locus 11q13. It consists of one untranslated exon and nine exons encoding the menin protein. We report a case of a 22-yearss-old woman with MEN type 1, who was proven to have a mutation in the MENIN gene. The patient was admitted because of repeated hypoglycemia. The fasting plasma glucose level was 32mg/dL. Seventy two hours fasting test showed an the insulin/glucose ratio as 0.33. Endoscopic ultrasonography detected multiple masses on the pancreas. The arterial -stimulated venous sampling(ASVS) with calcium showed sudden step up of insulin at the head and tail portions of the pancreas. The sellar MRI showed a pituitary mass that produced prolactin. Instead of a pathologic diagnosis from operational specimen, the genetic analysis revealed a mutation in the MENIN 1 gene(exon 2, 200~201insAGCCC).

MeSH Terms

Blood Glucose
Calcium
Diagnosis
Endosonography
Exons
Fasting
Female
Genes, Tumor Suppressor
Head
Humans
Hyperparathyroidism
Hypoglycemia
Insulin
Insulinoma
Islets of Langerhans
Magnetic Resonance Imaging
Male
Multiple Endocrine Neoplasia Type 1*
Multiple Endocrine Neoplasia*
Pancreas
Parathyroid Glands
Pituitary Gland, Anterior
Prolactin
Prolactinoma
Calcium
Insulin
Prolactin

Figure

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  Fig. 1 Arterial stimulated venous sampling (ASVS)

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  Fig. 2 Endoscopic ultrasonography shows 7 mm sized hypoechoic mass in distal pancreas (arrow)

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  Fig. 3 Brain MRI shows 2.5×1.5 cm sized mass at the pituitary gland

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  Fig. 4 Sequencing of exon 2 in the MENIN gene shows a frameshift mutation at codon 67

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