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

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

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 micro-adenoma 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.

Original languageEnglish
Pages (from-to)655-661
Number of pages7
JournalYonsei medical journal
Volume49
Issue number4
DOIs
Publication statusPublished - 2008 Aug

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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