{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:22:54Z","timestamp":1790752974824,"version":"4.1.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:p>A monoallelic germline alteration of <jats:italic>ARMC5<\/jats:italic> causes primary bilateral macronodular adrenal hyperplasia (PBMAH) with Cushing\u2019s 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 <jats:italic>ARMC5<\/jats:italic>, p.R267*, complicated with meningioma associated with somatic loss of heterozygosity (LOH) of the unaffected allele. Pathogenic alterations of <jats:italic>ARMC5<\/jats:italic> may also contribute to the development of meningioma by the two-hit mechanism.<\/jats:p>","DOI":"10.1530\/eje-20-0014","type":"journal-article","created":{"date-parts":[[2020,9,30]],"date-time":"2020-09-30T16:32:01Z","timestamp":1601483521000},"page":"K7-K12","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":27,"title":["Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia: a case report"],"prefix":"10.1093","volume":"183","author":[{"given":"Teruo","family":"Jojima","sequence":"first","affiliation":[{"name":"1Department of Endocrinology and Metabolism, Dokkyo Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiko","family":"Kogai","sequence":"additional","affiliation":[{"name":"2Department of Infection Control and Clinical Laboratory Medicine, Research Support 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Endocrinology and Metabolism, Dokkyo Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shintaro","family":"Sakurai","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology and Metabolism, Dokkyo Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazumi","family":"Akimoto","sequence":"additional","affiliation":[{"name":"3Division of Clinical Science, Research Support Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junko","family":"Sakumoto","sequence":"additional","affiliation":[{"name":"2Department of Infection Control and Clinical Laboratory Medicine, Research Support Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Namatame","sequence":"additional","affiliation":[{"name":"3Division of Clinical Science, Research Support Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keisuke","family":"Ueki","sequence":"additional","affiliation":[{"name":"4Department of Neurosurgery, Dokkyo Medical University, Shimotsuga-gun, Tochigi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Hishinuma","sequence":"additional","affiliation":[{"name":"2Department of Infection Control and Clinical Laboratory Medicine, Research Support Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takao","family":"Kamai","sequence":"additional","affiliation":[{"name":"5Department of Urology, Dokkyo Medical University, Shimotsuga-gun, Tochigi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isao","family":"Usui","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology and Metabolism, Dokkyo Medical 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