Identification of PML-RARA rearrangement by RT-PCR and sequencing in an acute promyelocytic leukemia without t(15;17) on G-banding and FISH.
Acute promyelocytic leukemia (APL) is characterized by a reciprocal translocation, t(15;17) (q22;q12), resulting in fusion of the genes promyelocytic leukemia (PML) and retinoic acid receptor alpha (RARA). With conventional cytogenetic methods, these translocations are detected in about 70-90% of patients, with most of the negative results due to technical problems or cryptic variants. Those masked PML-RARA fusions can be identified by molecular analyses such as reverse transcriptase-polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH). We have studied a patient showing morphological, cytochemical, and immunophenotypic features of hypergranular APL with trisomy 8 as a sole anomaly. t(15;17) was not evident on FISH tests, while RT-PCR and cDNA sequencing revealed the presence of PML-RARA transcripts.
Han
Jin-Yeong
JY
Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Republic of Korea. jyhan@dau.ac.kr
Kim
Kyong-Eun
KE
Kim
Kyeong-Hee
KH
Park
Joo-In
JI
Kim
Jae-Seok
JS
D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D015473:Leukemia, Promyelocytic, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012074:Remission Induction; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D017422:Sequence Analysis, DNA / Q000379:methods*; D014314:Trisomy
D015514:Oncogene Proteins, Fusion; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein