Occurrence of acute myeloid leukemia in hydroxyurea-treated sickle cell disease patient.
Samuel ReganXuebin YangNiklas K FinnbergWafik S El-DeiryJeffrey J PuPublished in: Cancer biology & therapy (2019)
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.
Keyphrases
- acute myeloid leukemia
- sickle cell disease
- allogeneic hematopoietic stem cell transplantation
- african american
- case report
- risk assessment
- gene expression
- machine learning
- genome wide
- deep learning
- data analysis
- artificial intelligence
- transcription factor
- electronic health record
- newly diagnosed
- multiple myeloma
- genome wide identification