Clinical laboratory · 2025
Isolated Central Nervous System Relapse in a Patient with FLT3-ITD Positive Acute Promyelocytic Leukemia.
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Li Xiaoyu, Zeng Jiang
Аннотация
BACKGROUND: Acute promyelocytic leukemia (APL) is a unique and highly manageable form of acute myeloid leukemia, typically identified by the presence of the PML-RARA fusion gene. However, relapse in the central nervous system (CNS) continues to be a rare but serious complication, particularly in patients with high-risk genetic features such as FLT3-ITD mutations. CNS involvement significantly complicates the course of APL and demands prompt recognition and management.
METHODS: We present the case of a 60-year-old male diagnosed with FLT3-ITD positive APL who developed CNS relapse. The patient underwent a comprehensive diagnostic workup, involving magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) evaluation using next-generation sequencing and flow cytometry. The patient was treated with intrathecal chemotherapy.
RESULTS: MRI revealed mild thickening and enhancement of the leptomeninges, suggestive of leptomeningeal in-volvement. CSF cytology and flow cytometry confirmed the presence of abnormal promyelocytes. The patient received intrathecal chemotherapy, which led to clinical improvement, with a reduction in the severity of headaches.
CONCLUSIONS: CNS relapse in APL, though rare, requires high clinical suspicion, particularly in patients with FLT3-ITD mutations. Early diagnosis using imaging and CSF analysis, followed by prompt intrathecal therapy, is crucial for effective management. This case highlights the need for vigilance in monitoring high-risk APL patients for CNS complications and emphasizes the importance of early intervention to improve outcomes.
METHODS: We present the case of a 60-year-old male diagnosed with FLT3-ITD positive APL who developed CNS relapse. The patient underwent a comprehensive diagnostic workup, involving magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) evaluation using next-generation sequencing and flow cytometry. The patient was treated with intrathecal chemotherapy.
RESULTS: MRI revealed mild thickening and enhancement of the leptomeninges, suggestive of leptomeningeal in-volvement. CSF cytology and flow cytometry confirmed the presence of abnormal promyelocytes. The patient received intrathecal chemotherapy, which led to clinical improvement, with a reduction in the severity of headaches.
CONCLUSIONS: CNS relapse in APL, though rare, requires high clinical suspicion, particularly in patients with FLT3-ITD mutations. Early diagnosis using imaging and CSF analysis, followed by prompt intrathecal therapy, is crucial for effective management. This case highlights the need for vigilance in monitoring high-risk APL patients for CNS complications and emphasizes the importance of early intervention to improve outcomes.