{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T19:49:42Z","timestamp":1781207382098,"version":"3.54.1"},"reference-count":31,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T00:00:00Z","timestamp":1745539200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T00:00:00Z","timestamp":1745539200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100018956","name":"nihr cambridge biomedical research centre","doi-asserted-by":"publisher","award":["NIHR203312"],"award-info":[{"award-number":["NIHR203312"]}],"id":[{"id":"10.13039\/501100018956","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NHS England \/ Genomics England NHS Cancer Genomic Network of Excellence Circulating Biomarkers Work Package","award":["Translating the circulating microRNA (miR-371a-3p)"],"award-info":[{"award-number":["Translating the circulating microRNA (miR-371a-3p)"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:p>\n                    NUT carcinoma is challenging to diagnose and may mimic a germ cell tumor (GCT) due to raised serum alpha-fetoprotein (AFP). A 15-year-old patient presented with back pain and cough. Investigation revealed a mediastinal mass and multiple bone metastases. Serum AFP was highly elevated, consistent with a metastatic malignant nonseminomatous GCT. Aggressive chemotherapy was initiated with initial response, unfortunately not sustained. Diagnostic biopsy showed undifferentiated tumor cells with weak GCT immunophenotype but was ultimately non-diagnostic. Serum miR-371a-3p levels, highly sensitive\/specific for malignant GCTs, were negative casting diagnostic suspicion. Routine use of agnostic molecular investigations, including whole genome sequencing, identified a chromosome 15:19 translocation, with\n                    <jats:italic toggle=\"yes\">BRD4::NUTM1<\/jats:italic>\n                    gene fusion on RNA sequencing, confirming NUT carcinoma. Subsequent NUTM1 immunohistochemistry was positive. A high index of clinical suspicion is required for non-pathologically\/molecularly confirmed diagnoses. Serum miR-371a-3p quantification ruled out malignant GCT and routine agnostic molecular studies identified the correct diagnosis; a low threshold for NUTM1 immunohistochemistry is thus recommended.\n                  <\/jats:p>","DOI":"10.1177\/10935266251335391","type":"journal-article","created":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T08:19:54Z","timestamp":1745569194000},"page":"338-345","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Mediastinal NUT Carcinoma With Raised Serum Alpha-Fetoprotein Mimicking a Malignant Germ Cell Tumor: Suspicion Raised Due to Negative Serum miR-371a-3p Levels"],"prefix":"10.1177","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8605-199X","authenticated-orcid":false,"given":"Sheng-Yuan","family":"Kan","sequence":"first","affiliation":[{"name":"Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia G.","family":"Scarpini","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn","family":"Ward","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Fleming","sequence":"additional","affiliation":[{"name":"Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heok K.","family":"Cheow","sequence":"additional","affiliation":[{"name":"Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahim","family":"Jalloh","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"Tadross","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"},{"name":"East Genomic Laboratory Hub (GLH) Genetics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"},{"name":"Medical Research Council Metabolic Diseases Unit, Institute of Metabolic Science Metabolic Research Laboratories, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Watkins","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"},{"name":"East Genomic Laboratory Hub (GLH) Genetics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Roberts","sequence":"additional","affiliation":[{"name":"East Genomic Laboratory Hub (GLH) Genetics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6246-4121","authenticated-orcid":false,"given":"Jamie","family":"Trotman","sequence":"additional","affiliation":[{"name":"East Genomic Laboratory Hub (GLH) Genetics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Tarpey","sequence":"additional","affiliation":[{"name":"East Genomic Laboratory Hub (GLH) Genetics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Coleman","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"},{"name":"Department of Pathology, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. 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