Endocrinol Metab.  2011 Jun;26(2):171-176. 10.3803/EnM.2011.26.2.171.

A Case of Familial Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 Gene

Affiliations
  • 1Department of Internal Medicine, University of Ulsan College of Medicine, Seoul, Korea. mskim@amc.seoul.kr
  • 2Department of Internal Medicine, Konkuk University School of Medicine, Seoul, Korea.
  • 3Medical Genetics Clinics and Laboratory, University of Ulsan College of Medicine, Seoul, Korea.
  • 4Department of Pediatrics, University of Ulsan College of Medicine, Seoul, Korea.

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of multiple tumors in the parathyroid gland, pancreatic islet, and pituitary gland. This condition is caused by mutations of MEN1, a tumor suppressor gene. Thus far, 565 different germline and somatic mutations of the MEN1 gene have been reported. Herein, we describe the case of a 23-year-old woman who suffered from a repetitive loss of consciousness. After workup, the patient was diagnosed with MEN1 with insulinoma, hyperparathyrodism due to parathyroid adenoma, and non-functioning pituitary microadenoma. She underwent a partial parathyroidectomy and distal pancreatectomy. Familial screening of MEN1 revealed that her brother had prolactinoma, hyperparathyroidism, pancreatic gastrinoma and non-functioning adrenal adenoma. Her father had hyperparathyroidism, pancreatic tumor, and adrenal adenoma. Upon genetic analysis of the MEN1 gene, a novel mutation in the MEN1 gene (exon 1, c.251del; p.Ser84LuefsX35) was detected in the patient, as well as her father and brother.

Keyword

Multiple endocrine neoplasia type 1; Insulinoma; Hyperparathyroidism

MeSH Terms

Adenoma
Fathers
Female
Gastrinoma
Genes, Tumor Suppressor
Genes, vif
Humans
Hyperparathyroidism
Insulinoma
Islets of Langerhans
Mass Screening
Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia Type 1
Pancreatectomy
Parathyroid Glands
Parathyroid Neoplasms
Parathyroidectomy
Pituitary Gland
Prolactinoma
Siblings
Unconsciousness
Young Adult

Figure

  • Fig. 1 Abdominal computed tomography. A. 2 cm and 0.8 cm sized hypervascular masses (arrows) in pancreas body and tail in the patients. B. 1.5 cm sized hypervascular nodule in pancreas tail in the patient's brother. C. 1.8 cm sized cystic mass (arrow) in pancreas body and tail in the patient's father. D. 4 cm sized mass in left adrenal gland in the patient's brother. E. 1.5 cm sized nodule (arrow) in right adrenal gland in the patient's father.

  • Fig. 2 Parathyroid gland scintigraphy using Tc-99m Sestamibi. A. The early image (10 minutes) showed focal increased uptake in left lower pole. In delayed image (2 hours), abnormal radioactivity accumulation in left lower pole was remained after washout of the thyroid gland activity, suggesting parathyroid adenoma in the patient. B. Two focal increased uptakes in upper and lower pole of right thyroid gland in the patient's brother. C. Two focal increased uptakes in posterior portion of left thyroid gland in the patient's father.

  • Fig. 3 Sellar magnetic resonance imaging. A. 0.9 cm sized solid mass (arrow) in body and left wing of pituitary gland in the patient. B. 2.2 cm sized lobulating mass (arrow) in sellar and suprasellar area in the patient's brother.

  • Fig. 4 Sequencing of exon 1 in the MEN1 gene showed a frameshift mutation caused by deletion at nucleotide c.251(p.Ser84LeufsX35).

  • Fig. 5 Family pedigree. Individuals are represented as males (squares) and females (circles). Filled in symbols indicate affected family members, grey symbol indicates "probably affected" individual (unavailable for examination), clear symbols indicate unaffected family members. The proband is indicated by an asterisk.


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