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J. Mol. Sci.","IJMS"],"abstract":"<jats:p>Bladder cancer (BC) is a common urological malignancy that lacks the non-invasive biomarkers that would make it suitable for early diagnosis. Human alpha-satellite DNA (hASAT) is a tandemly repeated centromeric\/pericentromeric DNA family associated with chromosomal stability and cancer-related genomic instability. We quantified extracellular hASAT (ec-hASAT) in plasma circulating cell-free DNA by nanoplate-based digital PCR in a pilot cohort including 29 BC-negative samples, 10 patients with non-muscle-invasive BC (NMIBC), and 7 patients with muscle-invasive BC (MIBC). Plasma ec-hASAT copy number was higher in patients with BC than in the BC-negative group (Mann\u2013Whitney U test, p = 6.61 \u00d7 10\u22127). BC-negative samples ranged from 225 to 11,864 copies\/\u00b5L plasma, whereas BC samples ranged from 1138 to 16,097 copies\/\u00b5L plasma. ROC analysis yielded an AUC of 0.944 for discriminating BC from BC-negative samples. At an exploratory threshold of 2000 copies\/\u00b5L plasma, sensitivity was 94.1% (16\/17; exact 95% CI, 71.3\u201399.9%) and specificity was 89.7% (26\/29; exact 95% CI, 72.6\u201397.8%). These preliminary data support plasma ec-hASAT as a candidate minimally invasive biomarker for BC detection, including NMIBC, and justify validation in larger prospective cohorts.<\/jats:p>","DOI":"10.3390\/ijms27156834","type":"journal-article","created":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T11:38:54Z","timestamp":1785411534000},"page":"6834","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Extracellular Alpha-Satellite DNA in Human Plasma as a Candidate Biomarker for Bladder Cancer Detection: Preliminary Evidence Using Digital PCR"],"prefix":"10.3390","volume":"27","author":[{"given":"Nunzia","family":"Santini","sequence":"first","affiliation":[{"name":"Department of Clinical Medicine and Surgery, University of Naples Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Procino","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine and Surgery, University of Naples Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9947-3953","authenticated-orcid":false,"given":"Sven","family":"Ljubi\u0107","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Ruder Bo\u0161kovic Institute,10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5263-2750","authenticated-orcid":false,"given":"Damir","family":"\u0110ermi\u0107","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Ruder Bo\u0161kovic Institute,10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0925-3939","authenticated-orcid":false,"given":"\u0110ur\u0111ica","family":"Ugarkovi\u0107","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Ruder Bo\u0161kovic Institute,10000 Zagreb, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2588-9366","authenticated-orcid":false,"given":"Isidoro","family":"Feliciello","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine and Surgery, University of Naples Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,7,30]]},"reference":[{"key":"ref_1","first-page":"229","article-title":"Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries","volume":"74","author":"Bray","year":"2024","journal-title":"CA Cancer J. 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