{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T16:32:07Z","timestamp":1789576327513,"version":"build-2803163510"},"reference-count":39,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T00:00:00Z","timestamp":1664496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Fonds de la recherche du Qu\u00e9bec-Sant\u00e9","award":["Formation de recherche pour les r\u00e9sidents-R\u00e9sidence compl\u00e9mentaire en recherche: phase 1 FRQS"],"award-info":[{"award-number":["Formation de recherche pour les r\u00e9sidents-R\u00e9sidence compl\u00e9mentaire en recherche: phase 1 FRQS"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Adrenal tumors are found in up to 40% of patients with multiple endocrine neoplasia type 1 (MEN1). However, adrenocortical carcinomas (ACC) and primary aldosteronism (PA) are rare in MEN1.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case<\/jats:title>\n                  <jats:p>A 48-year-old woman known to have primary hyperparathyroidism and hypertension with hypokalemia was referred for a right complex 8-cm adrenal mass with a 38.1 SUVmax uptake on 18F-FDG PET\/CT. PA was confirmed by saline suppression test (aldosterone 1948\u2005pmol\/L-1675\u2005pmol\/L; normal range [N]: &amp;lt;165 post saline infusion) and suppressed renin levels (&amp;lt;5\u2005ng\/L; N: 5-20). Catecholamines, androgens, 24-hour urinary cortisol, and pituitary panel were normal. A right open adrenalectomy revealed a concomitant 4-cm oncocytic ACC and a 2.3-cm adrenocortical adenoma. Immunohistochemistry showed high expression of aldosterone synthase protein in the adenoma but not in the ACC, supporting excess aldosterone production by the adenoma.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Genetic analysis<\/jats:title>\n                  <jats:p>After genetic counseling, the patient underwent genetic analysis of leucocyte and tumoral DNA. Sequencing of MEN1 revealed a heterozygous germline pathogenic variant in MEN1 (c.1556delC, p.Pro519Leufs*40). The wild-type MEN1 allele was lost in the tumoral DNA of both the resected adenoma and carcinoma. Sequencing analysis of driver genes in PA revealed a somatic pathogenic variant in exon 2 of the KCNJ5 gene (c.451G&amp;gt;A, p.Gly151Arg) only in the aldosteronoma.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>To our knowledge, we describe the first case of adrenal collision tumors in a patient carrying a germline pathogenic variant of the MEN1 gene associated with MEN1 loss of heterozygosity in both oncocytic ACC and adenoma and a somatic KCNJ5 pathogenic variant leading to aldosterone-producing adenoma. This case gives new insights on adrenal tumorigenesis in MEN1 patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgac564","type":"journal-article","created":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T20:15:48Z","timestamp":1664568948000},"page":"26-32","source":"Crossref","is-referenced-by-count":7,"title":["Genetic Dissection of Primary Aldosteronism in a Patient With MEN1 and Ipsilateral Adrenocortical Carcinoma and Adenoma"],"prefix":"10.1210","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5960-4181","authenticated-orcid":false,"given":"St\u00e9fanie","family":"Parisien-La Salle","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, Research Center, Centre hospitalier de l\u2019Universit\u00e9 de Montr\u00e9al (CHUM) , Montreal, QC, H2X 0C1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles","family":"Corbeil","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, Research Center, Centre hospitalier de l\u2019Universit\u00e9 de Montr\u00e9al (CHUM) , Montreal, QC, H2X 0C1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaki","family":"El-Haffaf","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Medicine, Research Center, Centre hospitalier de l\u2019Universit\u00e9 de Montr\u00e9al (CHUM) , Montreal, QC, H2X 0C1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Duranceau","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, Chicoutimi Hospital, Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi , Chicoutimi, QC, H2X 0C1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Latour","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cellular Biology, Centre hospitalier de l\u2019Universit\u00e9 de Montr\u00e9al (CHUM) , Montreal, QC, H2X 0C1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre I","family":"Karakiewicz","sequence":"additional","affiliation":[{"name":"Division of Urology, Department of Surgery, Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al , Montr\u00e9al, QC, H2X 0C1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4137-3025","authenticated-orcid":false,"given":"Andr\u00e9","family":"Lacroix","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, Research Center, Centre hospitalier de l\u2019Universit\u00e9 de Montr\u00e9al (CHUM) , Montreal, QC, H2X 0C1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8000-4313","authenticated-orcid":false,"given":"Isabelle","family":"Bourdeau","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Medicine, Research Center, Centre hospitalier de l\u2019Universit\u00e9 de Montr\u00e9al (CHUM) , Montreal, QC, H2X 0C1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2022,9,30]]},"reference":[{"issue":"9","key":"2022121716480276700_dgac564-B1","doi-asserted-by":"crossref","first-page":"2990","DOI":"10.1210\/jc.2012-1230","article-title":"Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)","volume":"97","author":"Thakker","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2022121716480276700_dgac564-B2","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1530\/EJE-11-0679","article-title":"Adrenal involvement in MEN1. 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