{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:24:51Z","timestamp":1790807091736,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,7,13]],"date-time":"2020-07-13T00:00:00Z","timestamp":1594598400000},"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":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To describe the clinical characteristics and outcome of patients with Li\u2010Fraumeni\u2013associated rhabdomyosarcoma (RMS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      Retrospective analysis of data from 31 French patients with RMS diagnosed before the age of 20 years associated with a\n                      <jats:italic>TP53<\/jats:italic>\n                      pathogenic germline variant. Cases were identified through the French Li\u2010Fraumeni database. Central histologic review was performed in 16 cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The median age at diagnosis was 2.3 years, and the median follow\u2010up was 9.1 years (0.3\u201034.8). The main tumor sites were head and neck (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a013), extremities (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a08), and trunk (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a08). The local pathology report classified the 31 tumors in embryonal (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a026), alveolar (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a01), pleomorphic (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a01), and spindle\u2010cell (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a01) RMS (missing\u00a0=\u00a02). After histological review, anaplasia (diffuse or focal) was reported in 12\/16 patients. Twenty\u2010five patients had localized disease, three had lymph node involvement, and three distant metastases. First\u2010line therapy combined surgery (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a027), chemotherapy (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a030), and radiotherapy (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a014) and led to RMS control in all, but one patient. Eleven patients relapsed, and 18 patients had second malignancies. The 10\u2010year event\u2010free, progression\u2010free, and overall survival rates were 36% (95% CI: 20\u201056), 62% (95% CI: 43\u201077) and 76% (95% CI: 56\u201088), respectively. The 10\u2010year cumulative risk of second malignancies was 40% (95% CI: 22\u201060).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The high incidence of multiple primary tumors strongly influences the long\u2010term prognosis of RMS associated with\n                      <jats:italic>TP53<\/jats:italic>\n                      pathogenic germline variants. Anaplastic RMS in childhood, independently of the familial history, should lead to\n                      <jats:italic>TP53<\/jats:italic>\n                      analysis at treatment initiation to reduce, whenever possible, the burden of genotoxic drugs and radiotherapy in carriers and to ensure the early detection of second malignancies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pbc.28486","type":"journal-article","created":{"date-parts":[[2020,7,13]],"date-time":"2020-07-13T11:42:23Z","timestamp":1594640543000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Rhabdomyosarcoma associated with germline\n                    <i>TP53<\/i>\n                    alteration in children and adolescents: The French experience"],"prefix":"10.1002","volume":"67","author":[{"given":"Morgane","family":"Pondrom","sequence":"first","affiliation":[{"name":"Gustave Roussy Cancer Center, Department of Children and Adolescents Oncology Paris\u2010Saclay University  Villejuif France"},{"name":"Department of Pediatric Hemato\u2010Oncology Nice University Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaelle","family":"Bougeard","sequence":"additional","affiliation":[{"name":"Rouen University Hospital, Normandy University, UNIROUEN, Inserm, Department of Genetics Normandy Centre for Genomic and Personalized Medicine  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Karanian","sequence":"additional","affiliation":[{"name":"Department of Pathology Lyon University Hospital  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacynthe","family":"Bonneau\u2010Lagacherie","sequence":"additional","affiliation":[{"name":"Department of Pediatric Onco\u2010Hematology Rennes University Hospital  Rennes 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