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Cell\u2010free DNA (cfDNA) has been regarded as a non\u2010invasive liquid biopsy for many malignant tumours. However, it has not been studied in benign tumours, which prompted us to adopt the targeted next\u2010generation sequencing approach to compare cfDNAs of 4 TIO patients, four patients with bone metastasis (BM) and 10 healthy controls. The mutational landscapes of cfDNA in TIO and BM groups were similar in the spectrum of allele frequencies and mutation types. Markedly, deleterious missense mutations in\n                    <jats:italic>FGFR1<\/jats:italic>\n                    and loss\u2010of\u2010function mutations in\n                    <jats:italic>MED12<\/jats:italic>\n                    were found in 3\/4 TIO patients but none of BM patients. The gene ontology analysis strongly supported that these mutated genes found in TIOs would play a potential role in PMTs' process. The genetic signatures and corresponding change in expression of\n                    <jats:italic>FGFR1<\/jats:italic>\n                    and\n                    <jats:italic>FGF23<\/jats:italic>\n                    were further validated in PMT tissues from a test cohort of another three TIO patients. In summary, we reported the first study of the mutational landscape and genetic signatures of cfDNA in TIO\/PMTs.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.14991","type":"journal-article","created":{"date-parts":[[2020,4,11]],"date-time":"2020-04-11T03:42:13Z","timestamp":1586576533000},"page":"4931-4943","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mutational landscape and genetic signatures of cell\u2010free DNA in tumour\u2010induced osteomalacia"],"prefix":"10.1111","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4137-2030","authenticated-orcid":false,"given":"Nan","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Orthopedic Surgery Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"},{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity Beijing China"},{"name":"Key laboratory of big data for spinal deformities Chinese Academy of Medical Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"},{"name":"Beijing Key Laboratory for Genetic Research of Skeletal Deformity Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hengqiang","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences Beijing China"},{"name":"School of Biomedical Engineering School of Ophthalmology and Optometry and Eye Hospital Wenzhou Medical University Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Ming","sequence":"additional","affiliation":[{"name":"PET\u2010CT Center National Cancer Center\/National Clinical Research Center for Cancer\/Cancer Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Wu","sequence":"additional","affiliation":[{"name":"Translational Medicine Research Institute Geneseeq Technology Inc. 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