상세 보기
- Yu, SooHo;
- Park, Min-Seung;
- Kim, Gyu Yeong;
- Cho, Junhun;
- Jung, Chul Won;
- ... Kim, Hee-Jin;
- ... Kim, Hyun-Young
WEB OF SCIENCE
2SCOPUS
2초록
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. © 2024 The Author(s). Cancer Reports published by Wiley Periodicals LLC.
키워드
- 제목
- Rare Case of Germline GATA2-Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia
- 저자
- Yu, SooHo; Park, Min-Seung; Kim, Gyu Yeong; Cho, Junhun; Jung, Chul Won; Kim, Hee-Jin; Kim, Hyun-Young
- 발행일
- 2024-12
- 유형
- Article
- 저널명
- Cancer Reports
- 권
- 7
- 호
- 12