Genetic Analysis of Multiple Endocrine Neoplasia Type 1 (MEN1) Leads to Misdiagnosis of an Extremely Rare Presentation of Intrasellar Cavernous Hemangioma as MEN1.
10.3803/EnM.2014.29.2.146
- Author:
Dong Min LEE
1
;
Seung Hee YU
;
Hyun Hwa YOON
;
Kang Lock LEE
;
Young Sil EOM
;
Kiyoung LEE
;
Byung Joon KIM
;
Yeun Sun KIM
;
Ie Byung PARK
;
Kwang Won KIM
;
Sihoon LEE
Author Information
1. Division of Endocrinology and Metabolism, Department of Internal Medicine, Gachon Univeristy School of Medicine, Incheon, Korea. shleemd@gachon.ac.kr
- Publication Type:Original Article
- Keywords:
Multiple endocrine neoplasia type 1;
MEN1 gene;
Intrasellar cavernous hemangioma
- MeSH:
Aged;
Brain;
Cavernous Sinus;
Cranial Nerve Diseases;
Diagnosis;
Diagnostic Errors*;
Diplopia;
Exons;
Female;
Genetic Testing;
Hemangioma, Cavernous*;
Humans;
Islets of Langerhans;
Leukocytes;
Magnetic Resonance Imaging;
Multiple Endocrine Neoplasia Type 1*;
Neurologic Manifestations;
Paralysis;
Pituitary Function Tests;
Pituitary Neoplasms;
Prevalence
- From:Endocrinology and Metabolism
2014;29(2):146-153
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
