Cytogenetically cryptic PML::RARA fusion in acute promyelocytic leukemia: Testing strategies in the modern era

Kirill Karlin; Christine Bryke; Ajoy Dias; Phillip Michaels

doi:10.1016/j.lrr.2022.100320

Cytogenetically cryptic PML::RARA fusion in acute promyelocytic leukemia: Testing strategies in the modern era

Leuk Res Rep. 2022 May 4:17:100320. doi: 10.1016/j.lrr.2022.100320. eCollection 2022.

Authors

Kirill Karlin¹, Christine Bryke¹, Ajoy Dias², Phillip Michaels¹

Affiliations

¹ Department of Pathology, Beth Israel Deaconess Medical Center, Boston, MA, United States of America.
² Department of Hematology-Oncology, Beth Israel Deaconess Medical Center, Boston, MA, United States of America.

Abstract

Acute promyelocytic leukemia (APL) is a unique leukemia that is characterized by the PML::RARA fusion. This fusion is often detected by conventional karyotype and fluorescence in situ hybridization (FISH); however, rare cases are cryptic and require molecular techniques to identify the PML::RARA fusion. Furthermore, as the incidence of these cases is rare, analysis by a targeted next-generation sequencing (NGS) panel of myeloid associated genes has never been reported. Herein, a clinical APL case is reported where the PML::RARA fusion was detected only by reverse transcriptase-polymerase chain reaction (RT-PCR), thus underscoring the necessity of utilizing complementary techniques when suspicion for APL is present.

Keywords: Acute promyelocytic leukemia; FISH; PML RARalpha; RT PCR.

Publication types

Case Reports