The PML Gene Breakpoint in Acute Promyelocytic Leukemia and

1
The PML Gene Breakpoint in Acute Promyelocytic
Leukemia and Its Association with Clinical and
Hematological Characteristics A Study of 58
Korean Patients Mina Hur1,2 , Yoon Hwan Chang1,
Ji Yeon Kim1, Hee Jin Kim1, Dong Young Lee1, Han
Ik Cho1, and Sung Sup Park1 1Department of
Clinical Pathology, Seoul National University
College of Medicine, Seoul, Korea 2Department of
Clinical Pathology, Hallym University College of
Medicine, Seoul, Korea

• INTRODUCTION
• PML-RARa rearrangement is the diagnostic
  hallmark of acute promyelocytic leukemia (APL),
  and generates heterogeneous PML-RARa fusion
  transcripts as a result of different breakpoints
  in the PML gene.
• It is still unclear, however, whether the
  PML-RARa heterogeneity has any biological or
  clinical relevance.
• We analyzed the association of the PML gene
  breakpoints with clinical and hematological
  characteristics of APL in Koreans.
• MATERIALS METHODS
• Fifty-eight cases of APL were enrolled in this
  study, who were newly defined at Seoul National
  University Hospital from January 1995 53 adults
  and five children, and 27 males and 31 females.
• We determined the PML gene breakpoints using
  RT-PCR and direct sequencing, and analyzed
  hemogram, morphologic features, and
  immunophenotypic expressions according to the PML
  gene breakpoints (bcr1 and bcr3).
• RT-PCR analysis
• - Sense primers of the PML gene (PA, PB, and
  PC) were located in exon 3 (PA and PB) and exon 6
  (PC), respectively. Primers RA, RB, and RC were
  sequences of RARA gene RA and RB were antisense
  primers located in exon 3, and RC, sense primer
  in exon 2.
• - Their sequences were
• PA 5'-AGCGCGACTACGAGGAGATG-3', PB
  5'CTGGTGCAGAGGATGAAGTG-3',