Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia: a case report.

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.
PMID: 33105102 [PubMed - in process]

Source: European Journal of Endocrinology - October 28, 2020 Category: Endocrinology Authors: Jojima T, Kogai T, Iijima T, Kato K, Sagara M, Kezuka A, Kase M, Sakurai S, Akimoto K, Sakumoto J, Namatame T, Ueki K, Hishinuma A, Kamai T, Usui I, Aso Y Tags: Eur J Endocrinol Source Type: research