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An unusual headache: CSF negative APML relapse in the brain
Thomas Quinn1, Manish Jain2, Ming-Te Lee2
1Department of Neurology, Leeds Teaching Hospitals Trust, Leeds, UK.
Abstract:
Acute Promyelocytic Leukaemia (APML) is a subtype of Acute Myeloid Leukaemia (AML), responsible for around 10% of cases of the disease in adults. Extra medullary disease (EMD) occurs infrequently in APML, but where EMD does occur, the central nervous system is one of the most commonly infiltrated sites. Our case describes a man in his 40s undergoing post-therapy surveillance for APML who presented to follow-up clinic with a headache, which was ultimately found to be caused by a tumour comprised of APML cells. His case presented a diagnostic challenge due to the benign appearances of the lesion on initial computed tomography brain imaging and the non-diagnostic cerebrospinal fluid analysis. The diagnostic difficulties described in our case emphasizes that clinicians working with APML patients must approach new neurological symptoms with a high degree of suspicion to prevent diagnostic delay.
Insights
Acute Promyelocytic Leukaemia (APML) can rarely affect the central nervous system. This case highlights a diagnostic challenge in a patient with APML presenting with a brain tumor, emphasizing the need for high suspicion.
Area of Science:
- Hematology
- Neuro-oncology
- Oncology
Background:
- Acute Promyelocytic Leukaemia (APML) is a distinct subtype of Acute Myeloid Leukaemia (AML).
- Extra medullary disease (EMD) is uncommon in APML, but CNS involvement is a recognized manifestation.
- Post-therapy surveillance is crucial for detecting relapse or complications.
Observation:
- A middle-aged male patient undergoing surveillance for APML presented with a headache.
- Initial investigations, including CT brain imaging and CSF analysis, were non-diagnostic.
- A brain tumor composed of APML cells was ultimately identified.
Findings:
- The case presented a diagnostic challenge due to the subtle initial imaging findings.
- Cerebrospinal fluid analysis did not initially reveal malignant cells.
- APML cells were confirmed as the cause of the intracranial lesion.
Implications:
- This case underscores the importance of a high index of suspicion for CNS involvement in APML patients with new neurological symptoms.
- Diagnostic delays can be minimized by prompt and thorough neurological evaluation.
- Awareness of rare EMD presentations in APML is critical for timely diagnosis and management.

