Genetic Analysis of Multiple Endocrine Neoplasia Type 1 (MEN1) Leads to Misdiagnosis of an Extremely Rare Presentation of Intrasellar Cavernous Hemangioma as MEN1

Abstract

BackgroundMultiple 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.MethodsA 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.ResultsGenomic 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.ConclusionThere 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.

Diffuse cavernous hemangioma of the skull misdiagnosed as skull metastasis in breast cancer patient: one case report and literature review

“…Given the condition that long-term radiographic imaging was helpful for assessing the efficacy of radiation therapy for PICHs, the patient was advised to attend regular follow-up assessments. In addition, it is well known that tumors result from the abnormal expression of genes events, and some recent studies have reported that mutation of some genes was related to development of hemangiomas [21, 22]. If we could perform gene detection in cases of hemangioma of the skull, and then recommend targeted therapy, it could be a prominent topic in future studies.…”

Intrasellar Cavernous Hemangioma: A Case Report and Literature Review

“…Our literature review identified 8 cases of intrasellar cavernous hemangioma (Table 1) [1][2][3][4][5] . All of them were confirmed by pathology, and the mass was completely located in the sella turcica in only 2 of 8 cases, while others extended into the suprasellar cistern and cavernous sinus and encompassed the internal carotid.…”

“…Age On MRI, cavernous hemangioma has the following characteristics: well-defined borders, brightly hyperintense on T2WI images, and two pattern enhancement with a rapid homogeneous enhancement and a progressive enhancement. The contrast agent fills the peripheral part of the lesion in the early stage of dynamic contrast-enhanced scanning and then slowly fills the entire lesion [2] . In addition, most pituitary adenomas are hypointense to iso-intense to the normal gland and cerebral cortex on T1-weighted MRI scans and of variable intensity on T2-weighted sequences.…”

Intrasellar cavernous hemangioma:A case report and literature review

“…The contrast agent fills the peripheral part of the lesion in the early stage of dynamic contrast-enhanced scanning and then slowly fills the entire lesion [2] . In addition, most pituitary adenomas are hypointense to iso-intense to the normal gland and cerebral cortex on T1-weighted MRI scans and of variable intensity on T2-weighted sequences.…”