胚系 GATA2 缺陷伴 Merkel 细胞癌和急性髓系白血病 1 例罕见报告。
Rare Case of Germline GATA2-Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia.
机构信息
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
出版信息
Cancer Rep (Hoboken). 2024 Dec;7(12):e70068. doi: 10.1002/cnr2.70068.
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.
背景
胚系 GATA2 缺陷通常表现为免疫缺陷和髓系肿瘤，有时伴有皮肤病，包括疣、脂膜炎和皮肤癌。
病例报告
我们报告了一例 36 岁女性，患有胚系 GATA2 缺陷，继发 Merkel 细胞癌和急性髓系白血病。分子分析显示存在 GATA2 S447R 种系变异，此前的报道中并未发现该变异，提示其与 Merkel 细胞癌可能存在关联。
结论
该病例拓宽了与 GATA2 缺陷相关的实体癌谱，强调了在年轻的髓系肿瘤或罕见皮肤癌患者中应考虑原发性免疫缺陷，以促进早期发现和治疗。
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