{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T11:28:58Z","timestamp":1782905338407,"version":"3.54.5"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,25]],"date-time":"2025-01-25T00:00:00Z","timestamp":1737763200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,1,25]],"date-time":"2025-01-25T00:00:00Z","timestamp":1737763200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["npj Precis. Onc."],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Rare cancers present significant challenges in diagnosis, treatment, and research, accounting for up to 25% of global cancer cases. Due to their rarity and atypical presentations, they are often misdiagnosed, resulting in late-stage detection and poor outcomes. Here, we describe a patient case with advanced metastatic nasopharynx NUT carcinoma, one of the rarest and most aggressive cancers. We conducted a comprehensive analysis of this patient\u2019s tumor, including Tumor Mutation Burden, Microsatellite Instability, and genetic profiling to explore further putative druggable targets. The tumor exhibited high PD-L1 expression and showed a notable response to immune checkpoint inhibitors when combined with platinum-based radio-chemotherapy. Our findings indicate that checkpoint inhibitors could play a critical role in treating NUT carcinoma, offering new therapeutic avenues and hope for patients with this challenging diagnosis. Whether PD-L1 expression may be a useful predictor of immune checkpoint inhibitor efficacy warrants further research.<\/jats:p>","DOI":"10.1038\/s41698-024-00768-7","type":"journal-article","created":{"date-parts":[[2025,1,25]],"date-time":"2025-01-25T10:38:36Z","timestamp":1737801516000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Adding checkpoint inhibitors to first-line chemotherapy for NUT carcinoma patients"],"prefix":"10.1038","volume":"9","author":[{"given":"Sarah","family":"Haebe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gesa","family":"Schuebbe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philipp","family":"Jurmeister","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"von Bergwelt-Baildon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5310-3754","authenticated-orcid":false,"given":"C. Benedikt","family":"Westphalen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich M.","family":"Lauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang G.","family":"Kunz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Subklewe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0987-7373","authenticated-orcid":false,"given":"Oliver","family":"Weigert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,25]]},"reference":[{"key":"768_CR1","doi-asserted-by":"publisher","DOI":"10.1111\/ecc.13502","volume":"30","author":"E de Heus","year":"2021","unstructured":"de Heus, E. et al. Unmet supportive care needs of patients with rare cancer: a systematic review. Eur. J. Cancer Care 30, e13502 (2021).","journal-title":"Eur. J. Cancer Care"},{"key":"768_CR2","doi-asserted-by":"publisher","first-page":"17","DOI":"10.4103\/ijmr.IJMR_915_14","volume":"145","author":"RK Pillai","year":"2017","unstructured":"Pillai, R. K. & Jayasree, K. Rare cancers: challenges & issues. Indian J. Med. Res. 145, 17\u201327 (2017).","journal-title":"Indian J. Med. Res."},{"key":"768_CR3","doi-asserted-by":"publisher","first-page":"2493","DOI":"10.1016\/j.ejca.2011.08.008","volume":"47","author":"G Gatta","year":"2011","unstructured":"Gatta, G. et al. Rare cancers are not so rare: the rare cancer burden in Europe. Eur. J. Cancer 47, 2493\u20132511 (2011).","journal-title":"Eur. J. Cancer"},{"key":"768_CR4","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1002\/hed.26067","volume":"42","author":"T Lee","year":"2020","unstructured":"Lee, T. et al. Prevalence of NUT carcinoma in head and neck: Analysis of 362 cases with literature review. Head Neck 42, 924\u2013938 (2020).","journal-title":"Head Neck"},{"key":"768_CR5","doi-asserted-by":"publisher","DOI":"10.1093\/jncics\/pkz094","volume":"4","author":"NG Chau","year":"2020","unstructured":"Chau, N. G. et al. An anatomical site and genetic-based prognostic model for patients with nuclear protein in testis (NUT) midline carcinoma: analysis of 124 patients. JNCI Cancer Spectr. 4, pkz094 (2020).","journal-title":"JNCI Cancer Spectr."},{"key":"768_CR6","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.cancergencyto.2010.06.007","volume":"203","author":"CA French","year":"2010","unstructured":"French, C. A. NUT midline carcinoma. Cancer Genet. Cytogenet. 203, 16\u201320 (2010).","journal-title":"Cancer Genet. Cytogenet."},{"key":"768_CR7","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1158\/2159-8290.CD-14-0014","volume":"4","author":"CA French","year":"2014","unstructured":"French, C. A. et al. NSD3-NUT fusion oncoprotein in NUT midline carcinoma: implications for a novel oncogenic mechanism. Cancer Discov. 4, 928\u2013941 (2014).","journal-title":"Cancer Discov."},{"key":"768_CR8","doi-asserted-by":"publisher","first-page":"2237","DOI":"10.1038\/sj.onc.1210852","volume":"27","author":"CA French","year":"2008","unstructured":"French, C. A. et al. BRD-NUT oncoproteins: a family of closely related nuclear proteins that block epithelial differentiation and maintain the growth of carcinoma cells. Oncogene 27, 2237\u20132242 (2008).","journal-title":"Oncogene"},{"key":"768_CR9","doi-asserted-by":"publisher","first-page":"E4184","DOI":"10.1073\/pnas.1702086114","volume":"114","author":"AA Alekseyenko","year":"2017","unstructured":"Alekseyenko, A. A. et al. Ectopic protein interactions within BRD4-chromatin complexes drive oncogenic megadomain formation in NUT midline carcinoma. Proc. Natl Acad. Sci. USA 114, E4184\u2013e4192 (2017).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"768_CR10","doi-asserted-by":"publisher","first-page":"5773","DOI":"10.1158\/1078-0432.CCR-12-1153","volume":"18","author":"DE Bauer","year":"2012","unstructured":"Bauer, D. E. et al. Clinicopathologic features and long-term outcomes of NUT midline carcinoma. Clin. Cancer Res. 18, 5773\u20135779 (2012).","journal-title":"Clin. Cancer Res."},{"key":"768_CR11","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01449-x","volume":"15","author":"XH Xie","year":"2020","unstructured":"Xie, X. H. et al. Clinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinoma. Orphanet J. Rare Dis. 15, 183 (2020).","journal-title":"Orphanet J. 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