FP21-2 Increased Prevalence of Intracranial Meningiomas in Patients With ACTH-Independent Macronodular Adrenal Hyperplasia

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: FP21-HPA Axis: New Clinical Developments
Sunday, June 16, 2013: 10:45 AM-11:15 AM
Presentation Start Time: 10:50 AM
Room 134 (Moscone Center)

Poster Board SUN-54
Guilherme Asmar Alencar*, Berenice Bilharinho Mendonca, Mirian Yumie Nishi, Ana Claudia Latronico, Madson Q Almeida, Antonio Marcondes Lerario and Maria Candida Barisson Villares Fragoso
Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, Brazil
Background: ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a benign adrenal disease and a rare cause of endogenous Cushing’s syndrome. Meningiomas are common tumors of the central nervous system derived from arachnoid cap cells. In 2005, Lee et al. described the cases of two sisters with familial AIMAH who presented intracranial meningiomas.(1) There have since been no other reports of the association of both diseases. Objective: The aim of the present study was to evaluate the prevalence of intracranial meningiomas in patients with AIMAH and search for mutations in genes potentially related with both diseases.  Methods: Seven members of the same kindred sample (4 F and 3 M) with AIMAH and eight other female patients with the disease underwent a magnetic resonance imaging (MRI) of the head (Signa HDxT 1.5T, GE Healthcare). Those with typical MRI features of intracranial meningiomas had DNA extracted from peripheral blood leucocytes. Mutations in the neurofibromin 2 (NF2) gene, which is the most commonly involved gene in the development of meningiomas, and melanocortin 2 receptor (MC2R) gene, which has previously been described in AIMAH, were investigated. Results: Typical MRI features of meningiomas were observed in two members of the kindred sample (1 F and 1 M) and in two other female patients with AIMAH. Another female patient of the kindred sample (recently diagnosed with AIMAH) had undergone a surgery for the removal of an intracranial angiomatous meningioma several years earlier. Therefore, 33% (5/15) of the patients with AIMAH had lesions compatible with intracranial meningiomas.  No germline mutation was found in NF2 and MC2R genes and no patient had clinical features of any syndrome associated with AIMAH or meningiomas. Conclusions: The prevalence of intracranial meningiomas may be higher in patients with AIMAH. The annual incidence of these tumors in the general population is only about 4.4 in 100,000.(2) In some cases, the occurrence of meningiomas may precede the onset of AIMAH by many years. The presence of multiple intracranial lesions in two patients reinforces the hypothesis of a genetic predisposition to meningiomas in AIMAH. A mutation in a gene other than NF2 and MC2R may be associated with the occurrence of both diseases.

(1) Lee S et al. Clinical Endocrinology 2005;63:625-630. (2) Pham MH et al. Neurosurgical Focus 2011;30(1):1-9.

Nothing to Disclose: GAA, BBM, MYN, ACL, MQA, AML, MCBVF

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm

Sources of Research Support: Alencar GA received a grant from the Brazilian Federal Agency for Support and Evaluation of Higher Education Personnel (CAPES 2590-11-5/PDSE); Fragoso MCBV received a grant from Sao Paulo Research Foundation (FAPESP 2010/12702-1).