Rare Case of Germline GATA2 ‐Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia
Year: 2024
Type: article
Study design: Case Report
Abstract: BACKGROUND: Germline GATA2-deficiency usually manifests as immunodeficiencies and myeloid neoplasms and sometimes with dermatological diseases, including warts, panniculitis, and skin cancers. CASE: We 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. CONCLUSION: This 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.
Source: Cancer Reports
DOI: 10.1002/cnr2.70068
Authors: SooHo Yu, Min‐Seung Park, Gyu Yeong Kim, Junhun Cho, Chul Won Jung, Hee‐Jin Kim, Hee‐Jin Kim, Hyun‐Young Kim, Hyun‐Young Kim
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,970
Award: G7348477884
OpenAlex ID: W4404872323