{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T01:20:49Z","timestamp":1779153649601,"version":"3.51.4"},"reference-count":5,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T00:00:00Z","timestamp":1716422400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Tumori"],"published-print":{"date-parts":[[2024,12]]},"abstract":"\n Introduction:<\/jats:title>\n Germline pathogenic mutations in TP53 gene are associated with a cancer predisposition syndrome known as Li Fraumeni syndrome. Albeit infrequently, non-small cell lung cancer, especially as oncogene-addicted disease, may be diagnosed in young patients with Li Fraumeni syndrome.<\/jats:p>\n <\/jats:sec>\n \n Case description:<\/jats:title>\n We report three cases of patients affected by Li Fraumeni syndrome who developed non-small cell lung cancer with EGFR or HER2 exon 20 insertions. The first patient suffered from liposarcoma and, then, brain metastases from HER2-mutated non-small cell lung cancer: after stereotactic radiotherapy, he benefited from enrollment in a clinical trial with a HER2-targeted therapy. The second young patient was a female with personal history of rhabdomyosarcoma, diagnosed with brain metastases from EGFR-mutated non-small cell lung cancer: enrollment in a clinical trial led to a temporary clinical benefit. The last case was a female diagnosed with breast carcinoma, ovarian granulosa cell tumor and advanced EGFR-mutated non-small cell lung cancer at a young age.<\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n Young patients affected by oncogene-addicted non-small cell lung cancer and with a positive familial cancer history should be referred for an accurate genetic counselling to look for Li Fraumeni syndrome. The underlying molecular connection between TP53 and HER family receptor tyrosine kinases remains unclear, but an extensive molecular characterization of tumors from patients with Li Fraumeni syndrome should always be performed, to offer patients a personalized therapeutic approach.<\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/03008916241255485","type":"journal-article","created":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T05:51:50Z","timestamp":1716443510000},"page":"NP5-NP10","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["A case series of non-small cell lung cancer patients with\n EGFR<\/i>\n or\n HER2<\/i>\n exon 20 insertion in Li Fraumeni syndrome"],"prefix":"10.1177","volume":"110","author":[{"given":"Valeria","family":"Cognigni","sequence":"first","affiliation":[{"name":"Clinical Oncology, Universit\u00e0 Politecnica delle Marche, Azienda Ospedaliero Universitaria delle Marche, Ancona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrica","family":"Capelletto","sequence":"additional","affiliation":[{"name":"Department of Oncology, University of Turin, AOU San Luigi, Orbassano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Bordi","sequence":"additional","affiliation":[{"name":"Medical Oncology Unit, University Hospital of Parma, Parma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Pavese","sequence":"additional","affiliation":[{"name":"Department of Oncology, University of Turin, AOU San Luigi, Orbassano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica Maria","family":"Carf\u00ec","sequence":"additional","affiliation":[{"name":"Department of Oncology, University of Turin, AOU San Luigi, Orbassano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Gelsomino","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"De Giglio","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy"},{"name":"Medical Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Chiari","sequence":"additional","affiliation":[{"name":"UOC Oncologia, AST Pesaro Urbino, Pesaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Minari","sequence":"additional","affiliation":[{"name":"Medical Oncology Unit, University Hospital of Parma, Parma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Ambrosini","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, University Hospital of Parma, Parma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Percesepe","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, University Hospital of Parma, Parma, Italy"},{"name":"Department of Medicine and Surgery, University of Parma, Parma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Giachino","sequence":"additional","affiliation":[{"name":"Medical Genetic Unit, San Luigi Gonzaga University Hospital, Torino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Bironzo","sequence":"additional","affiliation":[{"name":"Department of Oncology, University of Turin, AOU San Luigi, Orbassano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcello","family":"Tiseo","sequence":"additional","affiliation":[{"name":"Medical Oncology Unit, University Hospital of Parma, Parma, Italy"},{"name":"Department of Medicine and Surgery, University of Parma, Parma, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,5,23]]},"reference":[{"key":"bibr1-03008916241255485","doi-asserted-by":"publisher","DOI":"10.1177\/1947601911413466"},{"key":"bibr2-03008916241255485","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtho.2020.03.005"},{"key":"bibr3-03008916241255485","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-13-0132"},{"key":"bibr4-03008916241255485","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtocrr.2023.100521"},{"key":"bibr5-03008916241255485","doi-asserted-by":"publisher","DOI":"10.3390\/ijms242015035"}],"container-title":["Tumori Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03008916241255485","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03008916241255485","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03008916241255485","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:43:15Z","timestamp":1777660995000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03008916241255485"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,23]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1177\/03008916241255485"],"URL":"https:\/\/doi.org\/10.1177\/03008916241255485","relation":{},"ISSN":["0300-8916","2038-2529"],"issn-type":[{"value":"0300-8916","type":"print"},{"value":"2038-2529","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,23]]}}}