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

Autor: Kirill Karlin, Christine Bryke, Ajoy Dias, Phillip Michaels
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Leukemia Research Reports, Vol 17, Iss , Pp 100320- (2022)
Druh dokumentu: article
ISSN: 2213-0489
DOI: 10.1016/j.lrr.2022.100320
Popis: 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.
Databáze: Directory of Open Access Journals