PMID- 18729310
OWN - NLM
STAT- MEDLINE
DCOM- 20081010
LR  - 20211020
IS  - 0513-5796 (Print)
IS  - 1976-2437 (Electronic)
IS  - 0513-5796 (Linking)
VI  - 49
IP  - 4
DP  - 2008 Aug 30
TI  - Multiple endocrine neoplasia type 1 with multiple leiomyomas linked to a novel 
      mutation in the MEN1 gene.
PG  - 655-61
LID - 10.3349/ymj.2008.49.4.655 [doi]
AB  - 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.
FAU - Choi, Heekyoung
AU  - Choi H
AD  - Department of Internal Medicine, Yonsei University College of Medicine, Seoul, 
      Korea.
FAU - Kim, Sehyun
AU  - Kim S
FAU - Moon, Jae-Hoon
AU  - Moon JH
FAU - Lee, Yoon Hee
AU  - Lee YH
FAU - Rhee, Yumie
AU  - Rhee Y
FAU - Kang, Eun Seok
AU  - Kang ES
FAU - Ahn, Chul Woo
AU  - Ahn CW
FAU - Cha, Bong Soo
AU  - Cha BS
FAU - Lee, Eun Jig
AU  - Lee EJ
FAU - Kim, Kyung Rae
AU  - Kim KR
FAU - Lee, Hyun Chul
AU  - Lee HC
FAU - Jeong, Seon Yong
AU  - Jeong SY
FAU - Kim, Hyun Ju
AU  - Kim HJ
FAU - Lim, Sung-Kil
AU  - Lim SK
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Korea (South)
TA  - Yonsei Med J
JT  - Yonsei medical journal
JID - 0414003
SB  - IM
MH  - Base Sequence
MH  - Female
MH  - Humans
MH  - Leiomyomatosis/diagnostic imaging/genetics/*metabolism/*pathology
MH  - Magnetic Resonance Imaging
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/genetics/*metabolism
MH  - Mutation/genetics
MH  - Radiography
PMC - PMC2615294
EDAT- 2008/08/30 09:00
MHDA- 2008/10/11 09:00
PMCR- 2008/08/30
CRDT- 2008/08/30 09:00
PHST- 2008/08/30 09:00 [pubmed]
PHST- 2008/10/11 09:00 [medline]
PHST- 2008/08/30 09:00 [entrez]
PHST- 2008/08/30 00:00 [pmc-release]
AID - 200808655 [pii]
AID - 10.3349/ymj.2008.49.4.655 [doi]
PST - ppublish
SO  - Yonsei Med J. 2008 Aug 30;49(4):655-61. doi: 10.3349/ymj.2008.49.4.655.