Multiple endocrine neoplasia type 1 with multiple leiomyomas linked to a novel mutation in the MEN1 gene.
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.
Choi
Heekyoung
H
Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
Kim
Sehyun
S
Moon
Jae-Hoon
JH
Lee
Yoon Hee
YH
Rhee
Yumie
Y
Kang
Eun Seok
ES
Ahn
Chul Woo
CW
Cha
Bong Soo
BS
Lee
Eun Jig
EJ
Kim
Kyung Rae
KR
Lee
Hyun Chul
HC
Jeong
Seon Yong
SY
Kim
Hyun Ju
HJ
Lim
Sung-Kil
SK
D001483:Base Sequence; D005260:Female; D006801:Humans; D018231:Leiomyomatosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D011859:Radiography