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A complex translocation (1;17;15) with spliced short-type PML-RARA fusion transcripts in acute promyelocytic

Lili Lv1, Longfei Yang2, Honghua Cui1

  • 1Department of Oncology and Hematology, The Second Hospital of Jilin University, Changchun, Jilin 130041, P.R. China.

Experimental and Therapeutic Medicine
|January 26, 2019
PubMed

Insights

This study details a rare acute promyelocytic leukemia (APL) case with a complex three-way translocation involving the PML-RARA fusion gene. The patient achieved complete remission after standard treatment, highlighting successful management of this APL variant.

Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Acute promyelocytic leukemia (APL) is typically associated with the PML-RARA fusion gene resulting from the t(15;17) translocation.
  • Variant translocations, including complex or masked rearrangements, occur in a subset of APL cases.
  • The PML-RARA fusion gene is a critical driver in APL pathogenesis.

Purpose of the Study:

  • To report a novel case of acute promyelocytic leukemia (APL) with a complex three-way translocation.
  • To characterize the genetic abnormality and its association with the PML-RARA fusion gene.
  • To document the clinical outcome following standard APL treatment.

Main Methods:

  • Karyotyping was performed to identify chromosomal abnormalities.
  • Fluorescence in situ hybridization (FISH) was used to confirm the PML-RARA fusion gene.
  • Clinical data and treatment response were analyzed.

Main Results:

  • A 37-year-old male presented with APL harboring a complex three-way translocation: t(1;17;15)(q21;q21;q24).
  • Fluorescence in situ hybridization confirmed the presence of the PML-RARA fusion gene in 98% of bone marrow cells.
  • The patient achieved complete remission after treatment with all-trans retinoic acid and arsenic trioxide and remained relapse-free for 3 years.

Conclusions:

  • This is the first reported case of APL with a complex three-way translocation involving the 1q21 breakpoint.
  • The PML-RARA fusion gene can arise from complex chromosomal rearrangements beyond the classical t(15;17).
  • Standard APL therapy is effective even in cases with complex karyotypes, leading to durable remission.
Keywords:
acute promyelocytic leukemiachromosome 1complex translocationpromyelocytic leukemia-retinoic acid receptor αt(1;17;15)

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