J Korean Endocr Soc.  2007 Feb;22(1):68-73. 10.3803/jkes.2007.22.1.68.

A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation

• Jo YE
• Choi YJ
• Kim YK
• Ahn SM
• Jung SH
• Kim HJ
• Kim DJ
• Lee KW
• Hong JH
• Jeong SY
• Kim HJ
• Chung YS

• KMID: 2178245
• DOI: http://doi.org/10.3803/jkes.2007.22.1.68

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid, pancreatic islet and pituitary gland tumors. It is caused by mutation of the MEN1, a tumor suppressor gene, with more than 400 different MEN1 mutations having been described. Herein is reported the case of a 26-year-old woman who had complained of personality and behavior changes, coupled with repetitive loss of consciousness. Her random plasma glucose and insulin were 68 mg/dL and 67.3 microIU/mL, respectively. Two pancreatic masses were noted on abdominal computed tomography, with hypercalcemia noted from a routine chemistry test. Her diagnosis was that of MEN1; therefore, her first-degree relatives were also screened. DNA analysis was also performed, from which a MEN1 gene mutation (738del4 -> new nomenclature: 628del4) was detected. Knowledge of the MEN1 mutation status could provide early recognition of a tumor.

Keyword

MEN1 gene mutation; Multiple endocrine neoplasia type 1 (MEN1)

MeSH Terms

Adult
Blood Glucose
Chemistry
Diagnosis
DNA
Female
Genes, Tumor Suppressor
Humans
Hypercalcemia
Insulin
Islets of Langerhans
Multiple Endocrine Neoplasia Type 1*
Multiple Endocrine Neoplasia*
Pituitary Gland
Unconsciousness
DNA
Insulin

Figure

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  Fig. 1 Abdominal computed tomography. A. About 2 cm sized mass at posterior aspect of pancreas tail. B. About 1.6cm sized bulging countour at pancreas tail.

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  Fig. 2 Parathyroid gland scintigraphy using Tc-99m Sestamibi. The early image (20 min) showed diffuse uptake in both thyroid glands and prominent uptake in right lower pole. In delayed image (3 hrs), abnormal radioactivity accumulation in right lower pole was remained after washout of the thyroid gland activity, suggesting parathyroid adenoma or hyperplasia.

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  Fig. 3 Sellar MRI shows normal size and normal signal intensity of pituitary gland.

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  Fig. 4 Family pedigree. Left half diagonal lines represent as affected with insulinoma and right half diagonal lines represent as affected with hyperparathyroidism. Second, third, sixth, seventh siblings have hyperparathyroidism and sixth, seventh have insulinoma. MEN1 mutation carriers are indicated by dots in the center. Second, third, sixth and seventh siblings have MEN1 gene mutation. An arrow denotes the proband.

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  Fig. 5 MEN1 mutation detected in the MEN1 family studied. DNA sequencing results from the unaffected (A) and the affected (B) of the family are shown. The frameshift mutation caused by four nucleotide deletion at nucleotide c.738_741(new nomenclature: c.628_631) results in truncation of the MEN1 gene product and in functional loss of the menin protein.

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