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 Higgins, Christina Mendiola, Gihan Mohamed, Kumari Vadlamudi, Gopalrao V Velagaleti

Research output: Contribution to journalArticle

3 Citations (Scopus)

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 - 2014

Fingerprint

Acute Promyelocytic Leukemia
Insertional Mutagenesis
Cytogenetics
Genes

Keywords

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

ASJC Scopus subject areas

  • Hematology

Cite this

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

In: European Journal of Haematology, Vol. 93, No. 4, 2014, p. 354-358.

Research output: Contribution to journalArticle

Fan, Hongxin ; Ortega, Veronica ; Fanasch, Hilal M. ; Wang, Yao ; Holder, Kenneth N. ; Higgins, Russell ; Mendiola, Christina ; Mohamed, Gihan ; Vadlamudi, Kumari ; Velagaleti, Gopalrao V. / 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. In: European Journal of Haematology. 2014 ; Vol. 93, No. 4. pp. 354-358.
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AU - Higgins, Russell

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