Hydroxyurea (HU) has been widely used in sickle cell disease. Its potential long-term risk for carcinogenesis or leukemogenic risk remains undefined. Here, we report a 26 y old African-American female with Sickle Cell Disease (SCD) who developed refractory/relapsed acute myeloid leukemia (AML) 6 months after 26 months of HU use. That patient's cytogenetics and molecular genetics analyses demonstrated a complex mutation profile with 5q deletion, trisomy 8, and P53 deletion (deletion of 17p13.1). P53 gene sequence studies revealed a multitude of somatic mutations that most suggest a treatment-related etiology. The above-mentioned data indicates that the patient may have developed acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) as a direct result of HU exposure.

中文翻译：

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在羟基脲治疗的镰状细胞病患者中发生急性髓细胞性白血病。

羟基脲（HU）已被广泛用于镰状细胞病。其潜在的长期致癌危险或致白血病危险仍不确定。在这里，我们报告了26岁的患有镰状细胞病（SCD）的非洲裔美国女性，在使用HU的6个月后6个月出现了难治性/复发性急性髓细胞性白血病（AML）。该患者的细胞遗传学和分子遗传学分析显示了一个复杂的突变谱，其中有5q缺失，8三体性和P53缺失（缺失17p13.1）。P53基因序列研究揭示了许多体细胞突变，大多数表明与治疗相关的病因。上述数据表明，由于HU暴露的直接结果，患者可能已发生急性骨髓性白血病，并伴有骨髓增生异常相关变化（AML-MRC）。