{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T09:02:06Z","timestamp":1771059726544,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,11,29]],"date-time":"2024-11-29T00:00:00Z","timestamp":1732838400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer Reports"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Germline <jats:italic>GATA2<\/jats:italic>\u2010deficiency usually manifests as immunodeficiencies and myeloid neoplasms and sometimes with dermatological diseases, including warts, panniculitis, and skin cancers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>We report a 36\u2010year\u2010old woman with germline <jats:italic>GATA2<\/jats:italic>\u2010deficiency who developed Merkel cell carcinoma followed by acute myeloid leukemia. Molecular analysis revealed a germline <jats:italic>GATA2<\/jats:italic> S447R variant, not reported from the previous reported case, suggesting a potential association with Merkel cell carcinoma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case broadens the spectrum of solid cancers linked to <jats:italic>GATA2<\/jats:italic>\u2010deficiency, emphasizing the need for considering primary immunodeficiency in young patients with myeloid neoplasms or rare skin cancers, facilitating early detection and treatments.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cnr2.70068","type":"journal-article","created":{"date-parts":[[2024,11,30]],"date-time":"2024-11-30T06:53:32Z","timestamp":1732949612000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Rare Case of Germline <scp><i>GATA2<\/i><\/scp>\u2010Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-5827-9680","authenticated-orcid":false,"given":"SooHo","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4482-3098","authenticated-orcid":false,"given":"Min\u2010Seung","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Kangbuk Samsung Hospital Sungkyunkwan University School of Medicine  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4062-3184","authenticated-orcid":false,"given":"Gyu Yeong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pathology and Translational Genomics, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6089-9340","authenticated-orcid":false,"given":"Junhun","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Pathology and Translational Genomics, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5474-6807","authenticated-orcid":false,"given":"Chul Won","family":"Jung","sequence":"additional","affiliation":[{"name":"Division of Hematology\u2010Oncology, Department of Medicine, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3741-4613","authenticated-orcid":false,"given":"Hee\u2010Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, 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