{"title":"18F-FDG PET/CT 检测到一名患有 ACVR1 罕见错义突变的进行性骨化性纤维增生症患者","authors":"Haopeng Ni, Songhan Tang, Ying Zhang","doi":"10.1016/j.jbspin.2023.105682","DOIUrl":null,"url":null,"abstract":"<div><p>Fibrodysplasia ossificans progressiva (FOP) is an exceedingly rare human genetic disorder characterized by the progressive and incapacitating formation of ectopic bone outside the skeleton. We report a case of FOP patient with mutations within the <em>ACVR1</em> gene (c.982G<!--> <!-->><!--> <!-->A; p.G328R). <sup>18</sup>F-FDG positron emission tomography/computed tomography (PET/CT) was carried out for disease assessment. Previous studies have shown increased FDG uptake in regions of heterotopic ossification (HO) in FOP. However, in our study, the PET/CT features demonstrate that active ossificans exhibit increased <sup>18</sup>F-FDG uptake, whereas end-stage ossifications do not. Collectively, <sup>18</sup>F-FDG PET/CT emerges as a prospective approach to evaluate medication efficacy in the early stages, directing early intervention and pharmacological management of FOP before ossifications formation.</p></div>","PeriodicalId":54902,"journal":{"name":"Joint Bone Spine","volume":null,"pages":null},"PeriodicalIF":3.8000,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A fibrodysplasia ossificans progressiva patient with a rare missense mutation in ACVR1 detected on 18F-FDG PET/CT\",\"authors\":\"Haopeng Ni, Songhan Tang, Ying Zhang\",\"doi\":\"10.1016/j.jbspin.2023.105682\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Fibrodysplasia ossificans progressiva (FOP) is an exceedingly rare human genetic disorder characterized by the progressive and incapacitating formation of ectopic bone outside the skeleton. We report a case of FOP patient with mutations within the <em>ACVR1</em> gene (c.982G<!--> <!-->><!--> <!-->A; p.G328R). <sup>18</sup>F-FDG positron emission tomography/computed tomography (PET/CT) was carried out for disease assessment. Previous studies have shown increased FDG uptake in regions of heterotopic ossification (HO) in FOP. However, in our study, the PET/CT features demonstrate that active ossificans exhibit increased <sup>18</sup>F-FDG uptake, whereas end-stage ossifications do not. Collectively, <sup>18</sup>F-FDG PET/CT emerges as a prospective approach to evaluate medication efficacy in the early stages, directing early intervention and pharmacological management of FOP before ossifications formation.</p></div>\",\"PeriodicalId\":54902,\"journal\":{\"name\":\"Joint Bone Spine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.8000,\"publicationDate\":\"2023-12-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Joint Bone Spine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1297319X23001616\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"RHEUMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Joint Bone Spine","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1297319X23001616","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"RHEUMATOLOGY","Score":null,"Total":0}
A fibrodysplasia ossificans progressiva patient with a rare missense mutation in ACVR1 detected on 18F-FDG PET/CT
Fibrodysplasia ossificans progressiva (FOP) is an exceedingly rare human genetic disorder characterized by the progressive and incapacitating formation of ectopic bone outside the skeleton. We report a case of FOP patient with mutations within the ACVR1 gene (c.982G > A; p.G328R). 18F-FDG positron emission tomography/computed tomography (PET/CT) was carried out for disease assessment. Previous studies have shown increased FDG uptake in regions of heterotopic ossification (HO) in FOP. However, in our study, the PET/CT features demonstrate that active ossificans exhibit increased 18F-FDG uptake, whereas end-stage ossifications do not. Collectively, 18F-FDG PET/CT emerges as a prospective approach to evaluate medication efficacy in the early stages, directing early intervention and pharmacological management of FOP before ossifications formation.
期刊介绍：
Bimonthly e-only international journal, Joint Bone Spine publishes in English original research articles and all the latest advances that deal with disorders affecting the joints, bones, and spine and, more generally, the entire field of rheumatology.
All submitted manuscripts to the journal are subjected to rigorous peer review by international experts: under no circumstances does the journal guarantee publication before the editorial board makes its final decision. (Surgical techniques and work focusing specifically on orthopedic surgery are not within the scope of the journal.)Joint Bone Spine is indexed in the main international databases and is accessible worldwide through the ScienceDirect and ClinicalKey platforms.
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