Acute promyelocytic leukemia in early pregnancy with translocation t(15;17) and variant PML/RARA fusion transcripts

Cancer Genet Cytogenet. 2009 Jan 1;188(1):48-51. doi: 10.1016/j.cancergencyto.2008.08.012.

Abstract

A 32-year-old pregnant woman in the 13th gestational week was brought to Severance Hospital with gum bleeding and easy bruising. Initial laboratory results revealed anemia and thrombocytopenia. In a peripheral blood smear, 81% of leukocytes were large, abnormal promyelocytes. Bone marrow aspiration showed a hypercellular marrow with packed leukemic promyelocytes, and chromosome study revealed a karyotype of 46,XX,t(15;17)(q22;q21)[10]/46,XX[10]. In addition, variant fusion transcripts of PML/RARA were detected in the marrow specimen. The patient was diagnosed with acute promyelocytic leukemia (APL) and was treated with all-trans retinoic acid (ATRA) and idarubicin. One month from the patient's initial diagnosis a follow-up bone marrow examination was performed, revealing complete remission (CR). We know of no previous reports of APL during pregnancy associated with variant PML/RARA fusion transcripts. Here, we describe a novel case of APL in a pregnant woman with a t(15;17) translocation and variant fusion transcripts.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Antineoplastic Agents / therapeutic use
  • Bone Marrow / pathology
  • Female
  • Humans
  • Idarubicin / therapeutic use
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Korea
  • Leukemia, Promyelocytic, Acute / diagnosis
  • Leukemia, Promyelocytic, Acute / drug therapy
  • Leukemia, Promyelocytic, Acute / genetics*
  • Leukemia, Promyelocytic, Acute / pathology
  • Nuclear Proteins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Pregnancy
  • Pregnancy Complications, Neoplastic / diagnosis
  • Pregnancy Complications, Neoplastic / drug therapy
  • Pregnancy Complications, Neoplastic / genetics*
  • Pregnancy Complications, Neoplastic / pathology
  • Promyelocytic Leukemia Protein
  • Receptors, Retinoic Acid / genetics*
  • Retinoic Acid Receptor alpha
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription Factors / genetics*
  • Translocation, Genetic*
  • Tretinoin / therapeutic use
  • Tumor Suppressor Proteins / genetics*

Substances

  • Antineoplastic Agents
  • Nuclear Proteins
  • Oncogene Proteins, Fusion
  • Promyelocytic Leukemia Protein
  • RARA protein, human
  • Receptors, Retinoic Acid
  • Retinoic Acid Receptor alpha
  • Transcription Factors
  • Tumor Suppressor Proteins
  • PML protein, human
  • Tretinoin
  • Idarubicin