Rare Case of Germline GATA2‐Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia

Abstract

BackgroundGermline GATA2‐deficiency usually manifests as immunodeficiencies and myeloid neoplasms and sometimes with dermatological diseases, including warts, panniculitis, and skin cancers.CaseWe report a 36‐year‐old woman with germline GATA2‐deficiency who developed Merkel cell carcinoma followed by acute myeloid leukemia. Molecular analysis revealed a germline GATA2 S447R variant, not reported from the previous reported case, suggesting a potential association with Merkel cell carcinoma.ConclusionThis case broadens the spectrum of solid cancers linked to GATA2‐deficiency, emphasizing the need for considering primary immunodeficiency in young patients with myeloid neoplasms or rare skin cancers, facilitating early detection and treatments.