Acute promyelocytic leukemia with apparently normal karyotype: Molecular findings and response to all-trans retinoic acid

A. Kohno, S. Tsuzuki, M. Kasai, K. Miyamura, N. Emi, M. Tanimoto, H. Saito

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

Abstract

Acute promyelocytic leukemia (APL) is specifically associated with a reciprocal translocation, t(15; 17)(q22; q21), leading to the formation of a fusion of the retinoic acid receptor-α (RARA) gene and the promyelocytic leukemia (PML) gene. However, there are several reports describing APL cases lacking the t(15; 17). Many such cases are those bearing variant translocations involving chromosomes 15 or 17, and those with no chromosomal aberrations have rarely been reported. We have studied a patient with APL showing an apparently normal karyotype which was confirmed by spectral karyotyping (SKY). A submicroscopic PML-RARA fusion was identified by reverse transcriptase-polymerase chain reaction (RT-PCR) and fluorescent in situ hybridization (FISH). All-trans retinoic acid (ATRA) was effective as the initial therapy for remission induction and as the reinduction therapy after a relapse. The present study shows the key role of the fusion of PML-RARA in the responsiveness to ATRA as well as in the leukemogenesis of APL.

Original languageEnglish
Pages (from-to)151-161
Number of pages11
JournalLeukemia and Lymphoma
Volume42
Issue number1-2
DOIs
Publication statusPublished - 2001

Keywords

  • Acute promyelocytic leukemia
  • All-trans retinoic add
  • Normal karyotype
  • PML-RARA
  • Submicroscopic translocation

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

Fingerprint Dive into the research topics of 'Acute promyelocytic leukemia with apparently normal karyotype: Molecular findings and response to all-trans retinoic acid'. Together they form a unique fingerprint.

Cite this