{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T04:00:21Z","timestamp":1785124821446,"version":"3.55.0"},"reference-count":13,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T00:00:00Z","timestamp":1783987200000},"content-version":"vor","delay-in-days":12,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Advancing Care and Pathogenesis of Intractable Adrenal Diseases in Japan"},{"DOI":"10.13039\/100012319","name":"National Center for Global Health and Medicine","doi-asserted-by":"publisher","award":["24A1004"],"award-info":[{"award-number":["24A1004"]}],"id":[{"id":"10.13039\/100012319","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labor and Welfare, Japan","doi-asserted-by":"publisher","award":["23FC1041"],"award-info":[{"award-number":["23FC1041"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020237","name":"Japan Health Research Promotion Bureau Research Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020237","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>A 58-year-old man had multiple cutaneous neurofibromas since childhood; however, these were not evaluated. Two months prior, he developed bloody sputum and cough. Computed tomography revealed multiple masses throughout the body, including bilateral adrenal glands. The right adrenal mass was diagnosed as a pheochromocytoma via biopsy. The urinary metanephrine levels were extremely high. Iodine-123 metaiodobenzylguanidine (123I-MIBG) scintigraphy revealed uptake only in the right adrenal gland, liver, and lungs. He developed heart failure 1 month prior and was transferred to our hospital because of the deterioration of his general condition. Based on the 123I-MIBG scintigraphy findings and cutaneous neurofibromas, the patient was clinically diagnosed with metastatic pheochromocytoma associated with neurofibromatosis type 1 (NF1). He received palliative care because aggressive treatment was not feasible owing to his poor condition. The patient died 1 month later. Autopsy revealed metastases from the right adrenal pheochromocytoma to the liver and lungs. Additionally, malignant peripheral nerve sheath tumors were found in the left adrenal gland, lungs, left humeral diaphysis, and perineum, and a gastrointestinal stromal tumor was found adjacent to the small intestine. Patients with NF1 may have multiple types of tumors simultaneously, which should be considered when making a diagnosis.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag187","type":"journal-article","created":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T12:58:35Z","timestamp":1784033915000},"source":"Crossref","is-referenced-by-count":0,"title":["A case of neurofibromatosis type 1 with malignant peripheral nerve sheath tumor and metastatic pheochromocytoma"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0672-8994","authenticated-orcid":false,"given":"Kotaro","family":"Umamoto","sequence":"first","affiliation":[{"name":"Department of Diabetes, Endocrinology and Metabolism, National Center for Global Health and Medicine, Japan Institute for Health Security , Tokyo 162-8655 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3275-6625","authenticated-orcid":false,"given":"Masaki","family":"Uchihara","sequence":"additional","affiliation":[{"name":"Department of Diabetes, Endocrinology and Metabolism, National Center for Global Health and Medicine, Japan Institute for Health Security , Tokyo 162-8655 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-6823-9938","authenticated-orcid":false,"given":"Kanako","family":"Tanase-Nakao","sequence":"additional","affiliation":[{"name":"Department of Diabetes, Endocrinology and Metabolism, National Center for Global Health and Medicine, Japan Institute for Health Security , Tokyo 162-8655 ,","place":["Japan"]},{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo 157-8535 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akika","family":"Hyodo","sequence":"additional","affiliation":[{"name":"Department of Diabetes, Endocrinology and Metabolism, National Center for Global Health and Medicine, Japan Institute for Health Security , Tokyo 162-8655 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-4106-8132","authenticated-orcid":false,"given":"Masashi","family":"Kubota","sequence":"additional","affiliation":[{"name":"Department of Diabetes, Endocrinology and Metabolism, National Center for Global Health and Medicine, Japan Institute for Health Security , Tokyo 162-8655 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5682-4952","authenticated-orcid":false,"given":"Akiyo","family":"Tanabe","sequence":"additional","affiliation":[{"name":"Department of Diabetes, Endocrinology and Metabolism, National Center for Global Health and Medicine, Japan Institute for Health Security , Tokyo 162-8655 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2026,7,14]]},"reference":[{"issue":"1","key":"2026072623115124100_luag187-B1","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1038\/s42003-023-04815-0","article-title":"The therapeutic potential of neurofibromin signaling pathways and binding partners","volume":"6","author":"Baez-Flores","year":"2023","journal-title":"Commun Biol"},{"issue":"13","key":"2026072623115124100_luag187-B2","doi-asserted-by":"crossref","first-page":"2406","DOI":"10.3390\/cancers16132406","article-title":"Genotype-phenotype correlation in neurofibromatosis type 1: evidence for a mild phenotype associated with splicing variants leading to in-frame skipping of NF1 exon 24 [19a]","volume":"16","author":"Chen","year":"2024","journal-title":"Cancers (Basel)"},{"issue":"7","key":"2026072623115124100_luag187-B3","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/gim.2018.28","article-title":"Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"20","author":"Stewart","year":"2018","journal-title":"Genet Med"},{"issue":"24","key":"2026072623115124100_luag187-B4","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJM199706123362404","article-title":"Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders","volume":"336","author":"Side","year":"1997","journal-title":"N Engl J Med"},{"issue":"1","key":"2026072623115124100_luag187-B5","first-page":"e220091","article-title":"Germline genetic variants in pheochromocytoma\/paraganglioma: single-center experience","volume":"3","author":"Lima","year":"2023","journal-title":"Endocr Oncol"},{"issue":"2","key":"2026072623115124100_luag187-B6","doi-asserted-by":"crossref","first-page":"122","DOI":"10.36401\/JIPO-23-32","article-title":"Images in immunotherapy and precision oncology: a case report of neurofibromatosis-1","volume":"7","author":"Deshpande","year":"2024","journal-title":"J Immunother Precis Oncol"},{"issue":"12","key":"2026072623115124100_luag187-B7","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.2169\/internalmedicine.51.6385","article-title":"A case of neurofibromatosis type 1 coinciding with bilateral pheochromocytomas, multiple gastrointestinal stromal tumors, and malignant peripheral nerve sheath tumor","volume":"51","author":"Hataya","year":"2012","journal-title":"Intern Med"},{"issue":"7","key":"2026072623115124100_luag187-B8","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1097\/00000478-199607000-00013","article-title":"A case of von Recklinghausen's disease with bilateral pheochromocytoma-malignant peripheral nerve sheath tumors of the adrenal and gastrointestinal autonomic nerve tumors","volume":"20","author":"Sakaguchi","year":"1996","journal-title":"Am J Surg Pathol"},{"issue":"1","key":"2026072623115124100_luag187-B9","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/cen.13163","article-title":"Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1","volume":"86","author":"Gruber","year":"2017","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"1","key":"2026072623115124100_luag187-B10","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/s40842-018-0065-4","article-title":"Pheochromocytoma and Paraganglioma in Neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening","volume":"4","author":"Petr","year":"2018","journal-title":"Clin Diabetes Endocrinol"},{"issue":"5","key":"2026072623115124100_luag187-B11","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1136\/jmg.39.5.311","article-title":"Malignant peripheral nerve sheath tumours in neurofibromatosis 1","volume":"39","author":"Evans","year":"2002","journal-title":"J Med Genet"},{"issue":"15","key":"2026072623115124100_luag187-B12","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1056\/NEJMoa1912735","article-title":"Selumetinib in children with inoperable plexiform neurofibromas","volume":"382","author":"Gross","year":"2020","journal-title":"N Engl J Med"},{"issue":"4","key":"2026072623115124100_luag187-B13","doi-asserted-by":"crossref","first-page":"e35711","DOI":"10.1371\/journal.pone.0035711","article-title":"Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis","volume":"7","author":"Plotkin","year":"2012","journal-title":"PLoS One"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/4\/8\/luag187\/68770838\/luag187.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/4\/8\/luag187\/68770838\/luag187.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T03:12:02Z","timestamp":1785121922000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luag187\/8733915"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,2]]},"references-count":13,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,7,2]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luag187","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,8]]},"published":{"date-parts":[[2026,7,2]]},"article-number":"luag187"}}