Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia: a case report. Issue 6 (December 2020)

• Record Type: Journal Article
• Authors: Jojima, Teruo; Kogai, Takahiko; Iijima, Toshie; Kato, Kanako; Sagara, Masaaki; Kezuka, Atsumi; Kase, Masato; Sakurai, Shintaro; Akimoto, Kazumi; Sakumoto, Junko; Namatame, Takashi; Ueki, Keisuke; Hishinuma, Akira; Kamai, Takao; Usui, Isao; Aso, Yoshimasa
• Is Part Of: European journal of endocrinology. Volume 183:Issue 6(2020)
• Page Start: K7
• Page End: K12
• Publication Date: 2020-12
• Subjects: Endocrinology -- Periodicals; 616.4005
• DOI: 10.1530/EJE-20-0014
• Languages: English
• ISSNs: 0804-4643

Abstract

Abstract : A monoallelic germline alteration of ARMC5 causes primary bilateral macronodular adrenal hyperplasia (PBMAH) with Cushing's syndrome via its subsequent somatic alteration on the other allele as the second hit. PBMAH is sometimes complicated with meningioma. Dependency of such a multi-organ disease on the second hit mechanism was reported before, but this finding has not been confirmed yet. We describe a case of a 65-year-old female with PBMAH, carrying a heterozygous germline alteration of ARMC5, p.R267*, complicated with meningioma associated with somatic loss of heterozygosity (LOH) of the unaffected allele. Pathogenic alterations of ARMC5 may also contribute to the development of meningioma by the two-hit mechanism.