{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:45:59Z","timestamp":1747187159999,"version":"3.40.5"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,15]],"date-time":"2023-01-15T00:00:00Z","timestamp":1673740800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:p>Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by extensive heterotopic ossification of soft tissue structures leading to severe limitations in movement. FOP is caused by a germline mutation in the activating receptor type IA (<jats:italic>ACVR1<\/jats:italic>) gene. Worrisome is the fact that up to a third of diffuse intrinsic pontine gliomas (DIPG) also harbor the same point mutation in <jats:italic>ACVR1<\/jats:italic>. Radiological reports of central nervous system (CNS) involvement by FOP have described brainstem masses; however, the literature on the histopathology or pathogenesis of these lesions is scant. Here we present detailed neuropathologic findings of a brainstem mass in a patient with FOP and suggest that the tumor is hamartomatous in nature. This report, along with a literature review of radiographic and laboratory data, offers support for the idea that the <jats:italic>ACVR1<\/jats:italic> mutation may incite CNS proliferation, predominantly in the brainstem, but is probably not an oncologic driver. These lesions may be seen at autopsy and are likely noncontributory to death.<\/jats:p>","DOI":"10.1111\/neup.12892","type":"journal-article","created":{"date-parts":[[2023,1,16]],"date-time":"2023-01-16T04:54:53Z","timestamp":1673844893000},"page":"333-339","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Midline brain hamartomatous lesions in fibrodysplasia ossificans progressiva with <scp><i>ACVR1<\/i><\/scp> mutations"],"prefix":"10.1111","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0559-9393","authenticated-orcid":false,"given":"Jesse Lee","family":"Kresak","sequence":"first","affiliation":[{"name":"Department of Pathology, Immunology, &amp; Laboratory Medicine University of Florida  Gainesville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meggen","family":"Walsh","sequence":"additional","affiliation":[{"name":"Department of Pathology, Immunology, &amp; Laboratory Medicine University of Florida  Gainesville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Tuzzolo","sequence":"additional","affiliation":[{"name":"Department of Pathology, Immunology, &amp; Laboratory Medicine University of Florida  Gainesville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zehra","family":"Ordulu","sequence":"additional","affiliation":[{"name":"Department of Pathology, Immunology, &amp; Laboratory Medicine University of Florida  Gainesville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason","family":"Gregory","sequence":"additional","affiliation":[{"name":"Department of Pathology, Immunology, &amp; Laboratory Medicine University of Florida  Gainesville Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,15]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"McKusickV.#135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP. Available from URL:https:\/\/www.omim.org\/entry\/135100. Updated August 19 2017. 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