[Detection of PML/RARA rearrangement by reverse transcriptase-PCR and sequencing in a case of microgranular acute promyelocytic leukemia lacking t(15;17) on karyotype and FISH].
We report a case of morphologically microgranular acute promyelocytic leukemia with PML/RARA fusion transcripts demonstrated by reverse transcriptase-PCR and cDNA sequencing, and no PML/RARA fusion detected by karyotype and FISH analyses. Karyotype was 47,XX,+8[19]/46,XX[1]. Although the newer FISH probes provide more accurate detections of t(15;17), it would be necessary to perform other molecular tests to further identify the masked PML/RARA fusions.
Kim
Kyung Eun
KE
Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.
Woo
Kwang Sook
KS
Kim
Sung Hyun
SH
Han
Jin Yeong
JY
D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007621:Karyotyping / Q000379:methods; D015473:Leukemia, Promyelocytic, Acute / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D017422:Sequence Analysis, DNA / Q000379:methods*; D014178:Translocation, Genetic; D014314:Trisomy
D015514:Oncogene Proteins, Fusion; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein