{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T17:33:18Z","timestamp":1791135198003,"version":"4.1.0"},"reference-count":15,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,1,21]]},"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:p>Multiple\nendocrine neoplasia type 2B (MEN2B) is the rarest and most aggressive of the MEN syndromes. It is characterised by medullary thyroid cancer (MTC), pheochromocytoma, marfanoid body habitus, mucosal neuromas and colonic dysfunction. Patients typically present with chronic constipation and MTC in early childhood. We discuss an atypical late presentation of MEN2B in a 19-year-old man with chronic constipation since childhood admitted with acute spinal cord compression. He underwent emergent neurosurgical intervention followed by postoperative radiotherapy. Bone biopsy revealed metastatic pheochromocytoma. Thyroid nodule biopsy showed MTC. MIBG scan confirmed pheochromocytoma as the dominant malignancy. Germline testing revealed a RET mutation (p.M918T). He received one cycle of cyclophosphamide, vincristine and dacarbazine and subsequently developed a pathological right femur fracture requiring repair. Postoperative course was complicated by hypoxic respiratory failure requiring intubation. Imaging showed lymphangitic spread of disease in the lungs. He unfortunately did not respond to a short trial of sunitinib and transitioned to comfort care.<\/jats:p>","DOI":"10.1136\/bcr-2020-240488","type":"journal-article","created":{"date-parts":[[2021,2,5]],"date-time":"2021-02-05T00:05:07Z","timestamp":1612483507000},"page":"e240488","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Late diagnosis of metastatic pheochromocytoma in multiple endocrine neoplasia 2B with rapid clinical decline"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9581-5613","authenticated-orcid":false,"given":"Grant","family":"Jester","sequence":"first","affiliation":[{"name":"Hematology\/Oncology, UF Health Cancer Center-Orlando Health, Orlando, Florida, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hatem","family":"Hassanein","sequence":"additional","affiliation":[{"name":"Hematology\/Oncology, UF Health Cancer Center-Orlando Health, Orlando, Florida, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"El-Far","sequence":"additional","affiliation":[{"name":"Hematology\/Oncology, UF Health Cancer Center-Orlando Health, Orlando, Florida, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,2,4]]},"reference":[{"key":"2025082800480876000_14.2.e240488.1","doi-asserted-by":"publisher","DOI":"10.1634\/theoncologist.2014-0277"},{"key":"2025082800480876000_14.2.e240488.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0039-6060(05)80097-2"},{"key":"2025082800480876000_14.2.e240488.3","doi-asserted-by":"publisher","DOI":"10.1177\/2050640615611630"},{"key":"2025082800480876000_14.2.e240488.4","doi-asserted-by":"crossref","DOI":"10.1186\/1824-7288-38-9","article-title":"Multiple endocrine neoplasias type 2B and RET proto-oncogene","volume":"38","author":"Martucciello","year":"2012","journal-title":"Ital J Pediatr"},{"key":"2025082800480876000_14.2.e240488.5","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1992.00400180104016"},{"key":"2025082800480876000_14.2.e240488.6","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.jpeds.2018.08.022","article-title":"Multiple endocrine neoplasia type 2B presents early in childhood but often is undiagnosed for years","volume":"203","author":"Makri","year":"2018","journal-title":"J Pediatr"},{"key":"2025082800480876000_14.2.e240488.7","first-page":"1076","article-title":"Parent-Of-Origin effects in multiple endocrine neoplasia type 2B","volume":"55","author":"Carlson","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2025082800480876000_14.2.e240488.8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-4231"},{"key":"2025082800480876000_14.2.e240488.9","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2017-222758","article-title":"Metastatic pheochromocytoma in men 2A: a rare association","volume":"2018","author":"Pal","year":"2018","journal-title":"BMJ Case Rep"},{"key":"2025082800480876000_14.2.e240488.10","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/S0889-8529(18)30121-X","article-title":"Multiple endocrine neoplasia type 2. clinical features and screening","volume":"23","author":"Raue","year":"1994","journal-title":"Endocrinol Metab Clin North Am"},{"key":"2025082800480876000_14.2.e240488.11","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1653"},{"key":"2025082800480876000_14.2.e240488.12","doi-asserted-by":"publisher","DOI":"10.1530\/ERC-17-0209"},{"key":"2025082800480876000_14.2.e240488.13","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.23812"},{"key":"2025082800480876000_14.2.e240488.14","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1038\/s41416-019-0474-x","article-title":"A phase 2 trial of sunitinib in patients with progressive paraganglioma or pheochromocytoma: the SNIPP trial","volume":"120","author":"O'Kane","year":"2019","journal-title":"Br J Cancer"},{"key":"2025082800480876000_14.2.e240488.15","doi-asserted-by":"publisher","DOI":"10.1007\/s00259-007-0652-6"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-240488","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T07:48:17Z","timestamp":1756367297000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-240488"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":15,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,2,4]]},"published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1136\/bcr-2020-240488"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-240488","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2]]}}}