Acute promyelocytic leukemia presenting with central nervous system involvement: a report of 2 cases

Korean J Lab Med. 2011 Jan;31(1):9-12. doi: 10.3343/kjlm.2011.31.1.9.

Abstract

Central nervous system (CNS) involvement in acute promyelocytic leukemia (APL) is rare, and the presence of CNS symptoms at the time of diagnosis of APL is even rarer. We report 2 cases of APL presenting with CNS involvement. A 43-yr-old woman presented with easy bruising and stuporous mentality. Her complete blood count (CBC) revealed leukocytosis with increased blasts. Bone marrow (BM) analysis was carried out, and the diagnosis of APL was confirmed. This was done by cytogenetic analysis and demonstration of PML-RARα rearrangement by reverse transcriptase PCR in the BM cells. A lumbar puncture was performed to investigate the cause of her stuporous mentality, and her cerebrospinal fluid (CSF) analysis revealed 97% leukemic promyelocytes. Despite systemic and CNS therapy, she died due to septic shock by infection and rapid disease progression only 3 days after her admission. Another patient, a 3-yr-old girl, presented with easy bruising and epistaxis, and her CBC showed pancytopenia with increased blasts. BM studies confirmed APL. Quantitative PCR for PML-RARα in the BM cells revealed a PML-RARα/ABL ratio of 0.33 and CSF analysis revealed 9.5% leukemic promyelocytes (2 of 21 cells). She received induction chemotherapy and intrathecal therapy and achieved complete remission (CR) in the BM and CNS. She has been maintained in the CR status for the past 31 months. Thus, patients with APL must be evaluated for CNS involvement if any neurological symptoms are present at the time of diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Antineoplastic Agents / therapeutic use
  • Bone Marrow Cells / metabolism
  • Bone Marrow Cells / pathology
  • Central Nervous System / pathology
  • Child, Preschool
  • Contusions / etiology
  • Epistaxis / etiology
  • Female
  • Granulocyte Precursor Cells / pathology
  • Humans
  • Karyotyping
  • Leukemia, Promyelocytic, Acute / cerebrospinal fluid*
  • Leukemia, Promyelocytic, Acute / drug therapy
  • Leukemia, Promyelocytic, Acute / pathology
  • Oncogene Proteins, Fusion / analysis
  • Oncogene Proteins, Fusion / genetics
  • Oncogene Proteins, Fusion / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Spinal Puncture
  • Tomography, X-Ray Computed
  • Tretinoin / therapeutic use

Substances

  • Antineoplastic Agents
  • Oncogene Proteins, Fusion
  • promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein
  • Tretinoin