Yonsei Med J.  2008 Aug;49(4):655-661. 10.3349/ymj.2008.49.4.655.

Multiple Endocrine Neoplasia Type 1 with Multiple Leiomyomas Linked to a Novel Mutation in the MEN1 Gene

• Choi H
• Kim S
• Moon JH
• Lee YH
• Rhee Y
• Kang ES
• Ahn CW
• Cha BS
• Lee EJ
• Kim KR
• Lee HC
• Jeong SY
• Kim HJ
• Lim SK

• KMID: 1793203
• DOI: http://doi.org/10.3349/ymj.2008.49.4.655

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 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.

Keyword

Leiomyoma; multiple endocrine neoplasia type 1

MeSH Terms

Base Sequence
Female
Humans
Leiomyomatosis/genetics/*metabolism/*pathology/radiography
Magnetic Resonance Imaging
Middle Aged
Multiple Endocrine Neoplasia Type 1/genetics/*metabolism
Mutation/genetics

Figure

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  Fig. 1 Parathyroid scan. Two foci of delayed washout of the radiotracer in the bilateral parathyroid glnads (arrows).

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  Fig. 2 Sella MRI. Pituitary microadenoma (7 mm) at the right lateral wing (arrow).

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  Fig. 3 Abdomino-pelvic MRI. 2.3 cm-nodule in the left adrenal gland, arrow (A), bladder wall mass (B), and uterine myoma (C).

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  Fig. 4 Endoscopic ultrasonography shows 6 mm sized round anechoic mass at head of pancreas, suggesting pancreatic islet cell tumor (A), and 20 mm sized homogenous hypoechoic mass, suggesting esophageal leiomyoma (B).

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  Fig. 5 Sequencing of exon 7 in the MEN1 gene shows a missense mutation (D350V).

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  Fig. 6 The parathyroid adenoma was composed of a single cell proliferation of enlarged chief cells without any fat cells present. The chief cells had clear to slightly eosinophilic cytoplasm and round to oval nuclei with heavy chromatin distribution. The cells are arranged in a glandular and solid pattern (Hematoxlyin-eosin, × 200).

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