Menin Mutational Analysis in a MEN I Family / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: MEN I is an autosomal dominant disorder characterized by multiple tumors occurring in the parathyroid, pituitary, and pancreas. There is a variety of mutations in MEN I that are scattered throughout the coding region, thus MEN I family has its unique type of mutations. The aim of this study is to investigate the significance of genetic screening via analyzing the MEN I gene in the MEN I family. SUBJECTS AND METHOD: Three family members related to MEN I were involved for studying the MEN I gene mutation by using single strand conformational polymorphism and DNA sequence analysis of the coding region and the exon-intron boundaries of the MEN I gene. RESULTS: A specific germline mutation of 1023 a to g transition at the splice acceptor site of exon 7 was identified in all three members of the family in the direct sequence analysis of MEN I gene. CONCLUSION: Genetic analysis for mutations in the MEN I family allows identification of individuals predisposed to the disease and enables an early diagnosis and more complete management. Also, this new diagnostic approach is helpful not only in genetic counselling of clinical management of the MEN I families but also in reducing health care expenses and psychological burden of the diseases.

Multiple Pancreatic Islet Cell Tumors with Diverse Hormonal Expression in a Multiple Endocrine Neoplasia Type I Patient: A Case Report

Multiple endocrine neoplasia type I is characterized by multiple tumors, particularly in the parathyroid glands, the pituitary gland and the pancreatic islet. We observed multiple pancreatic islet cell tumors with diverse hormonal expression in a MEN-I patient. The patient suffered from protracted diarrhea and multiple gastrododuodenal ulcers for 10 years. In abdominal computed tomography, space occupying lesions were detected in the distal pancreas. Distal pancreatectomy was done. Three tumors that measured 2.0 X 1.0 cm (A), 1.0 X 1.0 cm (B), and 1.0 X 0.5 cm (C) were discovered. Microscopic examination revealed another tumor, 1.0 X 0.5 cm (D). Microadenomas, less than 0.5 cm, were also found throughout the pancreas. Immunohistochemical stainings for insulin, pancreatic polypeptide, gastrin, glucagon, somatostain, and chromogranin were performed. Tumor A was trabecular and acinar in form and showed weak cytoplasmic reactivity to insulin. Tumor B was a gyriform and a few cells showed cytoplasmic reactivity to pancreatic polypeptide. Tumor C was trabecular in form and showed cytoplasmic reactivity to chromogranin. Direct invasion and distant metastasis were not found.

Clinical Features of Multiple Endocrine Neoplasia Type I in Koreans / 대한내분비학회지

Background: Multiple endocrine neoplasia type I(MEN I) is a rare, eomplex, and potentially lethal disease. In Korean, only five anecdotal cases were reported as yet. The authors rescently experienced four cases of MEN I, and analysed the clinieal characteristics of MEN I in Koreans. Methods: The authors evaluated nine cases of MEN I, retrospectively. Four cases were analysed by clinical records in patients admitted to Asan Medical Center and five cases were reviewed by previously reported Korean literature from 1986 to 1995. Results: The average age was 39 years(ranged from 33 to 59 years). Eight of the nine patients had hyperparathyroidism documented by elevated serum calcium and PTH level with or without evidence of parathyroid mass. Initial presenting manifestations were symptomatic urinary stone, hypoglycernia due to insulinoma, hypogonadism, acromegaly, or peptic ulcer. Eight of nine patients had pancreatic islet cell tumors, and three of them were be malignant by radiologic and/or pathologic findings. The pancreatic tumors produced various hormones, such as gastrin, insulin, glucagon, or combination of them. Six of the nine cases had pituitary lesion. The most cornmon pituitary tumor was prolactinoma and the remaining was GH or GH and TSH producing tumor. In addition to the major components of MEN I, four had adrenocortical hyperplasia or adenoma and two had carcinoid tumor. There was only one familial case. Conclusion: The clinical charateristics of MEN I in Korean are mostly not different from the previous reports except older age at diagnosis, more comrnon adrenal involvement(44%) and gastrointestinal carcinoid tumor(22%). Although only one case was familial, more cases could be found if careful screening were done for the family members of the MBN I patients. In addition, screening and close follow up for endocrine pancreatic tumors are required for MEN I patients without detectable pancreatic lesion becau~se the malignant potential of pancreatic tumors has beeome an increasing concem for the prognosis of MEN I.