{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T23:07:39Z","timestamp":1775603259917,"version":"3.50.1"},"reference-count":12,"publisher":"The Endocrine Society","issue":"7","funder":[{"DOI":"10.13039\/100000005","name":"DOD","doi-asserted-by":"publisher","award":["W81XWH-22-PRCRP-CDA-SO"],"award-info":[{"award-number":["W81XWH-22-PRCRP-CDA-SO"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Germline pathogenic variants in MYC-associated factor X (MAX) are a rare cause of hereditary pheochromocytoma and paraganglioma (PPGL) syndrome, typically presenting with pheochromocytomas (PCC). Although MAX-related PPGLs are generally characterized by an adrenergic phenotype and bilateral tumors in 67% of cases, the tumor spectrum associated with MAX pathogenic variants remains poorly understood. We present a case of a 28-year-old man with a germline MAX pathogenic variant (c.64-2A&amp;gt;G) who developed bilateral PCC and later, a liver sarcoma with a TP53 variant and PLEKHO2::BRAF gene fusion. The diagnosis of sarcoma in this young patient underscores a potential association between MAX pathogenic variants and an increased predisposition to sarcoma development. Our findings suggest that MAX-related PPGLs may be associated with other malignancies, including sarcoma, and support expanding surveillance guidelines to include whole-body imaging for early detection of extra-adrenal tumors. Given the rarity of MAX pathogenic variants, further studies are needed to elucidate the full spectrum of presentation and establish comprehensive evidence-based surveillance strategies.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf119","type":"journal-article","created":{"date-parts":[[2025,6,9]],"date-time":"2025-06-09T05:03:41Z","timestamp":1749445421000},"source":"Crossref","is-referenced-by-count":1,"title":["Early-Onset Sarcoma With Germline MAX Variant: Expanding the Spectrum in Hereditary Pheochromocytoma and Paraganglioma"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-9554-011X","authenticated-orcid":false,"given":"Aysegul","family":"Eren","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Department of Internal Medicine, Ohio State University Comprehensive Cancer Center and Ohio State University Wexner Medical Center , Columbus, OH 43210 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1549-5363","authenticated-orcid":false,"given":"Pamela L","family":"Brock","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Internal Medicine, Ohio State University Comprehensive Cancer Center and Ohio State University Wexner Medical Center , Columbus, OH 43210 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1884-408X","authenticated-orcid":false,"given":"Priya H","family":"Dedhia","sequence":"additional","affiliation":[{"name":"Division of Surgical Oncology, Department of Surgery, Ohio State University Comprehensive Cancer Center and Ohio State University Wexner Medical Center , Columbus, OH 43210 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,6,9]]},"reference":[{"issue":"10","key":"2025060901033657900_luaf119-B1","doi-asserted-by":"crossref","first-page":"2828","DOI":"10.1158\/1078-0432.CCR-12-0160","article-title":"MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma","volume":"18","author":"Burnichon","year":"2012","journal-title":"Clin Cancer Res"},{"issue":"7","key":"2025060901033657900_luaf119-B2","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/ng.861","article-title":"Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma","volume":"43","author":"Comino-M\u00e9ndez","year":"2011","journal-title":"Nat Genet"},{"key":"2025060901033657900_luaf119-B3","doi-asserted-by":"crossref","first-page":"558","DOI":"10.3389\/fendo.2020.00558","article-title":"A novel phenotype of germline pathogenic variants in MAX: concurrence of pheochromocytoma and ganglioneuroma in a Chinese family and literature review","volume":"11","author":"Chang","year":"2020","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"4","key":"2025060901033657900_luaf119-B4","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1210\/clinem\/dgaa957","article-title":"Multiple endocrine tumors associated with germline MAX mutations: multiple endocrine neoplasia type 5?","volume":"106","author":"Seabrook","year":"2021","journal-title":"J Clin Endocrinol Metab"},{"key":"2025060901033657900_luaf119-B5","doi-asserted-by":"crossref","first-page":"234","DOI":"10.3389\/fendo.2020.00234","article-title":"A novel MAX gene mutation variant in a patient with multiple and \u201ccomposite\u201d neuroendocrine-neuroblastic tumors","volume":"11","author":"Pozza","year":"2020","journal-title":"Front Endocrinol (Lausanne)"},{"key":"2025060901033657900_luaf119-B6","doi-asserted-by":"crossref","first-page":"609263","DOI":"10.3389\/fendo.2021.609263","article-title":"Case report: pheochromocytoma and synchronous neuroblastoma in a family with hereditary pheochromocytoma associated with a MAX deleterious variant","volume":"12","author":"Duarte","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"11","key":"2025060901033657900_luaf119-B7","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1210\/js.2017-00135","article-title":"Case report of a prolactinoma in a patient with a novel MAX mutation and bilateral pheochromocytomas","volume":"1","author":"Roszko","year":"2017","journal-title":"J Endocr Soc"},{"issue":"1","key":"2025060901033657900_luaf119-B8","doi-asserted-by":"crossref","first-page":"luad006","DOI":"10.1210\/jcemcr\/luad006","article-title":"Primary hyperparathyroidism in a patient with bilateral pheochromocytoma and a mutation in the tumor suppressor MAX","volume":"1","author":"Charoenngam","year":"2023","journal-title":"JCEM Case Rep"},{"key":"2025060901033657900_luaf119-B9","doi-asserted-by":"crossref","first-page":"1442691","DOI":"10.3389\/fendo.2024.1442691","article-title":"Genotype and clinical phenotype characteristics of MAX germline mutation-associated pheochromocytoma\/paraganglioma syndrome","volume":"15","author":"Lian","year":"2024","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"2","key":"2025060901033657900_luaf119-B10","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1210\/jc.2015-2592","article-title":"Complex MAX rearrangement in a family with malignant pheochromocytoma, renal oncocytoma, and erythrocytosis","volume":"101","author":"Korpershoek","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2025060901033657900_luaf119-B11","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1210\/endrev\/bnab019","article-title":"Personalized management of pheochromocytoma and paraganglioma","volume":"43","author":"N\u00f6lting","year":"2022","journal-title":"Endocr Rev"},{"key":"2025060901033657900_luaf119-B12","author":"National Comprehensive Cancer Network"}],"container-title":["JCEM Case 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