{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T09:10:07Z","timestamp":1792919407843,"version":"4.5.0"},"reference-count":65,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2020,12,24]],"date-time":"2020-12-24T00:00:00Z","timestamp":1608768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001077","name":"Royal Brisbane and Women\u2019s Hospital Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001077","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Australian National Health and Medical Research Council","award":["1108032"],"award-info":[{"award-number":["1108032"]}]},{"name":"Australian National Health and Medical Research Council","award":["1158111"],"award-info":[{"award-number":["1158111"]}]},{"name":"The Hillcrest Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Pathogenic germline MAX variants are associated with pheochromocytoma and paraganglioma (PPGL), pituitary neuroendocrine tumors and, possibly, other endocrine and nonendocrine tumors.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To report 2 families with germline MAX variants, pheochromocytomas (PCs) and multiple other tumors.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Clinical, genetic, immunohistochemical, and functional studies at University hospitals in Australia on 2 families with germline MAX variants undergoing usual clinical care. The main outcome measures were phenotyping; germline and tumor sequencing; immunohistochemistry of PC and other tumors; functional studies of MAX variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Family A has multiple individuals with PC (including bilateral and metastatic disease) and 2 children (to date, without PC) with neuroendocrine tumors (paravertebral ganglioneuroma and abdominal neuroblastoma, respectively). One individual has acromegaly; immunohistochemistry of PC tissue showed positive growth hormone\u2013releasing hormone staining. Another individual with previously resected PCs has pituitary enlargement and elevated insulin-like growth factor (IGF-1). A germline MAX variant (c.200C&amp;gt;A, p.Ala67Asp) was identified in all individuals with PC and both children, with loss of heterozygosity in PC tissue. Immunohistochemistry showed loss of MAX staining in PCs and other neural crest tumors. In vitro studies confirmed the variant as loss of function. In Family B, the proband has bilateral and metastatic PC, prolactin-producing pituitary tumor, multigland parathyroid adenomas, chondrosarcoma, and multifocal pulmonary adenocarcinomas. A truncating germline MAX variant (c.22G&amp;gt;T, p.Glu8*) was identified.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Germline MAX mutations are associated with PCs, ganglioneuromas, neuroblastomas, pituitary neuroendocrine tumors, and, possibly, parathyroid adenomas, as well as nonendocrine tumors of chondrosarcoma and lung adenocarcinoma, suggesting MAX is a novel multiple endocrine neoplasia gene.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgaa957","type":"journal-article","created":{"date-parts":[[2020,12,25]],"date-time":"2020-12-25T05:35:14Z","timestamp":1608874514000},"page":"e1163-e1182","source":"Crossref","is-referenced-by-count":106,"title":["Multiple Endocrine Tumors Associated with Germline <i>MAX<\/i> Mutations: Multiple Endocrine Neoplasia Type 5?"],"prefix":"10.1210","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6724-8594","authenticated-orcid":false,"given":"Amanda J","family":"Seabrook","sequence":"first","affiliation":[{"name":"Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, Australia"},{"name":"Faculty of Medicine and Health, The University of Sydney, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica E","family":"Harris","sequence":"additional","affiliation":[{"name":"The University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute, Woolloongabba, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia B","family":"Velosa","sequence":"additional","affiliation":[{"name":"Noosa Hospital, Noosaville, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Kim","sequence":"additional","affiliation":[{"name":"Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, Australia"},{"name":"Faculty of Medicine and Health, The University of Sydney, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aideen M","family":"McInerney-Leo","sequence":"additional","affiliation":[{"name":"Dermatology Research Centre, The University of Queensland Diamantina Institute, The University of Queensland, Woolloongabba, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trisha","family":"Dwight","sequence":"additional","affiliation":[{"name":"Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, Australia"},{"name":"Faculty of Medicine and Health, The University of Sydney, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason I","family":"Hockings","sequence":"additional","affiliation":[{"name":"Dandenong Hospital, Dandenong, 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Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Luxford","sequence":"additional","affiliation":[{"name":"Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, Australia"},{"name":"Faculty of Medicine and Health, The University of Sydney, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mhairi","family":"Marshall","sequence":"additional","affiliation":[{"name":"Australian Translational Genomics Centre, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology (QUT), Translational Research Institute, Woolloongabba, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozgur","family":"Mete","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Health Network, Toronto, Canada"},{"name":"Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J","family":"Pennisi","sequence":"additional","affiliation":[{"name":"Australian Translational Genomics Centre, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology (QUT), Translational Research Institute, Woolloongabba, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A","family":"Brown","sequence":"additional","affiliation":[{"name":"Guy\u2019s and St Thomas\u2019 NHS Foundation Trust and King\u2019s College London NIHR Biomedical Research Centre, King\u2019s College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J","family":"Gill","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, The University of Sydney, Sydney, Australia"},{"name":"NSW Health Pathology, Department of Anatomical Pathology, Royal North Shore Hospital, Sydney, Australia"},{"name":"Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory I","family":"Hockings","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Greenslopes Private Hospital, Brisbane, Australia"},{"name":"University of Queensland Faculty of Medicine, The University of Queensland, Brisbane, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roderick J","family":"Clifton-Bligh","sequence":"additional","affiliation":[{"name":"Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, Australia"},{"name":"Faculty of Medicine and Health, The University of Sydney, Sydney, Australia"},{"name":"Department of Endocrinology, Royal North Shore Hospital, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8143-4403","authenticated-orcid":false,"given":"Emma L","family":"Duncan","sequence":"additional","affiliation":[{"name":"Australian Translational Genomics Centre, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology (QUT), Translational Research Institute, Woolloongabba, Australia"},{"name":"University of Queensland Faculty of Medicine, The University of Queensland, Brisbane, Australia"},{"name":"Department of Twin Research & Genetic Epidemiology, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King\u2019s College London; St Thomas\u2019 Campus, London, UK"},{"name":"Department of Endocrinology, Guy\u2019s and St Thomas\u2019 NHS Foundation Trust, London, 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