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.
10.3343/kjlm.2009.29.5.379
- Author:
Kyung Eun KIM
1
;
Kwang Sook WOO
;
Sung Hyun KIM
;
Jin Yeong HAN
Author Information
1. Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea. jyhan@dau.ac.kr
- Publication Type:Case Report ; English Abstract
- Keywords:
Cryptic PML/RARA rearrangement;
Acute promyelocytic leukemia;
RT-PCR;
PML/RARA;
Trisomy 8
- MeSH:
Chromosomes, Human, Pair 15/*genetics;
Chromosomes, Human, Pair 17/*genetics;
Chromosomes, Human, Pair 8;
Female;
Humans;
In Situ Hybridization, Fluorescence/methods;
Karyotyping/methods;
Leukemia, Promyelocytic, Acute/diagnosis/*genetics/pathology;
Middle Aged;
Oncogene Proteins, Fusion/*genetics;
Reverse Transcriptase Polymerase Chain Reaction/*methods;
Sequence Analysis, DNA/*methods;
*Translocation, Genetic;
Trisomy
- From:The Korean Journal of Laboratory Medicine
2009;29(5):379-383
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
