PML-RARA fusion resulting from a cryptic insertion of RARA gene into PML gene without the reciprocal RARA-PML fusion: Clinical, cytogenetic, and molecular characterization and prognosis

Hongxin Fan, Veronica Ortega, Hilal M. Fanasch, Yao Wang, Kenneth N. Holder, Russell A. Higgins, Christina Mendiola, Gihan Mohamed, Kumari Vadlamudi, Gopalrao Velagaleti

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Abstract

We describe a case of acute promyelocytic leukemia in a 61-yr-old woman with a cryptic insertion of RARA gene into PML gene. Using a combination of cytogenetic and molecular methods, we confirmed the insertion and presence of the PML-RARA transcript and lack of the reciprocal RARA-PML transcript. Although such cryptic insertions leading to a PML-RARA fusion have been previously reported, we show that such variant insertions, based on our case, appear to have the same prognostic significance as the classical t(15;17)(q22;q21).

Original languageEnglish (US)
Pages (from-to)354-358
Number of pages5
JournalEuropean Journal of Haematology
Volume93
Issue number4
DOIs
StatePublished - Jan 1 2014

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Keywords

  • Acute promyelocytic leukemia
  • Cryptic PML-RARA
  • Fluorescence in situ hybridization
  • Karyotype
  • Reverse transcriptase-polymerase chain reaction

ASJC Scopus subject areas

  • Hematology

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