PMID- 25031887
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140717
LR  - 20211021
IS  - 2093-596X (Print)
IS  - 2093-5978 (Electronic)
IS  - 2093-596X (Linking)
VI  - 29
IP  - 2
DP  - 2014 Jun
TI  - Genetic Analysis of Multiple Endocrine Neoplasia Type 1 (MEN1) Leads to 
      Misdiagnosis of an Extremely Rare Presentation of Intrasellar Cavernous 
      Hemangioma as MEN1.
PG  - 146-53
LID - 10.3803/EnM.2014.29.2.146 [doi]
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited 
      disorder characterized by the simultaneous occurrence of endocrine tumors in 
      target tissues (mainly the pituitary, endocrine pancreas, and parathyroid 
      glands). MEN1 is caused by mutations in the MEN1 gene, which functions as a tumor 
      suppressor and consists of one untranslated exon and nine exons encoding the 
      menin protein. This condition is usually suspected when we encounter patients 
      diagnosed with tumors in multiple endocrine organs, as mentioned above. METHODS: 
      A 65-year-old woman who underwent surgery for a pancreatic tumor (serous 
      cystadenoma) 5 years previously was referred to our hospital due to neurologic 
      symptoms of diplopia and left ptosis. Brain magnetic resonance imaging revealed a 
      3.4-cm lesion originating from the cavernous sinus wall and extending into the 
      sellar region. It was thought to be a nonfunctioning tumor from the results of 
      the combined pituitary function test. Incidentally, we found that she also had a 
      pancreatic tumor, indicating the necessity of genetic analysis for MEN1. RESULTS: 
      Genomic analysis using peripheral leukocytes revealed a heterozygous c.1621G>A 
      mutation in the MEN1 gene that was previously reported to be either a pathogenic 
      mutation or a simple polymorphism. We pursued a stereotactic approach to the 
      pituitary lesion, and microscopic findings of the tumor revealed it to be an 
      intrasellar cavernous hemangioma, a rare finding in the sellar region and even 
      rarer in relation to oculomotor palsy. The patient recovered well from surgery, 
      but refused further evaluation for the pancreatic lesion. CONCLUSION: There is 
      great emphasis placed on genetic testing in the diagnosis of MEN1, but herein we 
      report a case where it did not assist in diagnosis, hence, further discussion on 
      the role of genetic testing in this disease is needed. Also, in cases of 
      pituitary tumor with cranial nerve palsy, despite its low prevalence, intrasellar 
      cavernous hemangioma could be suspected.
FAU - Lee, Dong Min
AU  - Lee DM
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Gachon 
      Univeristy School of Medicine, Incheon, Korea.
FAU - Yu, Seung Hee
AU  - Yu SH
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Gachon 
      Univeristy School of Medicine, Incheon, Korea.
FAU - Yoon, Hyun Hwa
AU  - Yoon HH
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Gachon 
      Univeristy School of Medicine, Incheon, Korea.
FAU - Lee, Kang Lock
AU  - Lee KL
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Gachon 
      Univeristy School of Medicine, Incheon, Korea.
FAU - Eom, Young Sil
AU  - Eom YS
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Gachon 
      Univeristy School of Medicine, Incheon, Korea.
FAU - Lee, Kiyoung
AU  - Lee K
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Gachon 
      Univeristy School of Medicine, Incheon, Korea.
FAU - Kim, Byung-Joon
AU  - Kim BJ
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Gachon 
      Univeristy School of Medicine, Incheon, Korea.
FAU - Kim, Yeun Sun
AU  - Kim YS
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Gachon 
      Univeristy School of Medicine, Incheon, Korea.
FAU - Park, Ie Byung
AU  - Park IeB
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Gachon 
      Univeristy School of Medicine, Incheon, Korea.
FAU - Kim, Kwang-Won
AU  - Kim KW
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Gachon 
      Univeristy School of Medicine, Incheon, Korea.
FAU - Lee, Sihoon
AU  - Lee S
AD  - Division of Endocrinology and Metabolism, Department of Internal Medicine, Gachon 
      Univeristy School of Medicine, Incheon, Korea.
LA  - eng
PT  - Journal Article
DEP - 20140626
PL  - Korea (South)
TA  - Endocrinol Metab (Seoul)
JT  - Endocrinology and metabolism (Seoul, Korea)
JID - 101554139
PMC - PMC4091494
OTO - NOTNLM
OT  - Intrasellar cavernous hemangioma
OT  - MEN1 gene
OT  - Multiple endocrine neoplasia type 1
COIS- No potential conflict of interest relevant to this article was reported.
EDAT- 2014/07/18 06:00
MHDA- 2014/07/18 06:01
PMCR- 2014/06/01
CRDT- 2014/07/18 06:00
PHST- 2013/03/13 00:00 [received]
PHST- 2013/10/01 00:00 [accepted]
PHST- 2014/07/18 06:00 [entrez]
PHST- 2014/07/18 06:00 [pubmed]
PHST- 2014/07/18 06:01 [medline]
PHST- 2014/06/01 00:00 [pmc-release]
AID - 10.3803/EnM.2014.29.2.146 [doi]
PST - ppublish
SO  - Endocrinol Metab (Seoul). 2014 Jun;29(2):146-53. doi: 10.3803/EnM.2014.29.2.146. 
      Epub 2014 Jun 26.