{"entity": "publication", "iuid": "8a8abd759d2349d7826a83c7e1f97d08", "timestamp": "2026-08-20T20:35:39.656Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/8a8abd759d2349d7826a83c7e1f97d08.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/8a8abd759d2349d7826a83c7e1f97d08"}}, "title": "Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype.", "authors": [{"family": "Koczkowska", "given": "Magdalena", "initials": "M"}, {"family": "J\u0105kalski", "given": "Marcin", "initials": "M"}, {"family": "Birkholz-Walerzak", "given": "Dorota", "initials": "D"}, {"family": "Kostecka", "given": "Anna", "initials": "A"}, {"family": "Iliszko", "given": "Mariola", "initials": "M"}, {"family": "W\u00f3jcik", "given": "Magdalena", "initials": "M"}, {"family": "Lewandowski", "given": "Krzysztof", "initials": "K"}, {"family": "Milska-Musa", "given": "Katarzyna", "initials": "K"}, {"family": "Buckley", "given": "Patrick G", "initials": "PG"}, {"family": "Dr\u0119\u017cek", "given": "Kinga", "initials": "K"}, {"family": "Juhas", "given": "Ulana", "initials": "U"}, {"family": "Kuziemska", "given": "Ewa", "initials": "E"}, {"family": "Maciejewska", "given": "Agnieszka", "initials": "A"}, {"family": "Paw\u0142owski", "given": "Ryszard", "initials": "R"}, {"family": "Was\u0105g", "given": "Bartosz", "initials": "B"}, {"family": "Filipowicz", "given": "Natalia", "initials": "N"}, {"family": "Chojnowska", "given": "Katarzyna", "initials": "K"}, {"family": "\u0141awrynowicz", "given": "Urszula", "initials": "U"}, {"family": "Dumanski", "given": "Jan P", "initials": "JP"}, {"family": "Lipska-Zi\u0119tkiewicz", "given": "Beata S", "initials": "BS"}, {"family": "Mieczkowski", "given": "Jakub", "initials": "J"}, {"family": "Piotrowski", "given": "Arkadiusz", "initials": "A"}], "type": "case reports", "published": "2022-12-02", "journal": {"title": "Sci Rep", "issn": "2045-2322", "volume": "12", "issue": "1", "pages": "20854", "issn-l": "2045-2322"}, "abstract": "Numeric sex chromosome abnormalities are commonly associated with an increased cancer risk. Here, we report a 14-year-old boy with a rare mosaic 45, X/48, XYYY karyotype presenting with subtle dysmorphic features and relative height deficiency, requiring growth hormone therapy. As only 12 postnatal cases have been described so far with very limited follow-up data, to assess the proband's long-term prognosis, including cancer risk, we performed high-throughput single-cell RNA sequencing (scRNA-seq) analysis. Although comprehensive cytogenetic analysis showed seemingly near perfect balance between 45, X and 48, XYYY cell populations, scRNA-seq revealed widespread differences in genotype distribution among immune cell fractions, specifically in monocytes, B- and T-cells. These results were confirmed at DNA level by digital-droplet PCR on flow-sorted immune cell types. Furthermore, deregulation of predominantly autosomal genes was observed, including TCL1A overexpression in 45, X B-lymphocytes and other known genes associated with hematological malignancies. Together with the standard hematological results, showing increased fractions of monocytes and CD4+/CD8+T lymphocytes ratio, long-term personalized hemato-oncological surveillance was recommended in the reported patient.", "doi": "10.1038/s41598-022-25308-w", "pmid": "36460769", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9718746"}, {"db": "pii", "key": "10.1038/s41598-022-25308-w"}], "notes": [], "created": "2026-08-20T09:23:38.359Z", "modified": "2026-08-20T09:23:38.404Z"}