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Multiple endocrine neoplasia type 1 with multiple leiomyomas linked to a novel mutation in the MEN1 gene

 Heekyoung Choi  ;  Sehyun Kim  ;  Jae-Hoon Moon  ;  Yoon Hee Lee  ;  Yumie Rhee  ;  Eun Seok Kang  ;  Chul Woo Ahn  ;  Bong Soo Cha  ;  Eun Jig Lee  ;  Kyung Rae Kim  ;  Hyun Chul Lee  ;  Seon Yong Jeong  ;  Hyun Ju Kim  ;  Sung-Kil Lim 
 YONSEI MEDICAL JOURNAL, Vol.49(4) : 655-661, 2008 
Journal Title
Issue Date
Base Sequence ; Female ; Humans ; Leiomyomatosis/diagnostic imaging ; Leiomyomatosis/genetics ; Leiomyomatosis/metabolism* ; Leiomyomatosis/pathology* ; Magnetic Resonance Imaging ; Middle Aged ; Multiple Endocrine Neoplasia Type 1/genetics ; Multiple Endocrine Neoplasia Type 1/metabolism* ; Mutation/genetics ; Radiography
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited syndrome. MEN1 is characterized by the presence of functioning and nonfunctioning tumors or hyperplasia of the pituitary gland, parathyroid glands, and pancreatic islet cells. In addition, MEN1 carriers can have adrenal or thyroid tumors and non-endocrine tumors, such as lipomas, angiofibromas, and leiomyomas. Although leiomyoma is not a major component of MEN1, it is thought to occur more frequently than expected. However, there has been no report of a case of MEN1 with leiomyoma in Korea so far. This report describes a patient with multiple leiomyomas in MEN1. A 50-year-old woman was referred for further evaluation of elevated calcium levels and osteoporosis. Biochemical abnormalities included hypercalcemia with elevated parathyroid hormone. There was hyperprolactinemia with pituitary microadenoma in sella MRI. An abdominal MRI demonstrated adrenal nodules and leiomyomas in the bladder and uterus. Endoscopic ultrasonography demonstrated esophageal leiomyoma and pancreatic islet cell tumor. A subtotal parathyroidectomy with thymectomy was performed. Sequencing of the MEN1 gene in this patient revealed a novel missense mutation (D350V, exon 7). This is the first case of MEN1 accompanied with multiple leiomyomas, parathyroid adenoma, pituitary adenoma, pancreatic tumor, and adrenal tumor.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Eun Seok(강은석) ORCID logo https://orcid.org/0000-0002-0364-4675
Kim, Kyung Rae(김경래)
Ahn, Chul Woo(안철우) ORCID logo https://orcid.org/0000-0003-3733-7486
Rhee, Yumie(이유미) ORCID logo https://orcid.org/0000-0003-4227-5638
Lee, Eun Jig(이은직) ORCID logo https://orcid.org/0000-0002-9876-8370
Lee, Hyun Chul(이현철)
Lim, Sung Kil(임승길)
Cha, Bong Soo(차봉수) ORCID logo https://orcid.org/0000-0003-0542-2854
Choi, Hee Kyoung(최희경)
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