Cancer reports (Hoboken, N.J.) · 2024
Rare Case of Germline GATA2-Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Yu SooHo, Park Min-Seung, Kim Gyu Yeong, Cho Junhun, Jung Chul Won, Kim Hee-Jin, Kim Hyun-Young
Аннотация
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.
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.