Cytogenetic and molecular genetic studies on a variant of t(15;17), ins(17;15)(q21;q14q22), in an acute promyelocytic leukemia patient.
- Author:
Su-ning CHEN
1
;
Yong-quan XUE
;
Ya-fang WU
;
Jin-lan PAN
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Chromosome Painting; methods; Chromosomes, Human, Pair 15; genetics; Chromosomes, Human, Pair 17; genetics; Humans; Leukemia, Promyelocytic, Acute; diagnosis; genetics; Male; Neoplasm Proteins; genetics; Oncogene Proteins, Fusion; genetics; Reverse Transcriptase Polymerase Chain Reaction; Transcription, Genetic; genetics; Translocation, Genetic
- From: Chinese Journal of Medical Genetics 2004;21(1):77-79
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo report a rare variant of t(15;17), ins(17;15)(q21;q14q22) in an acute promyelocytic leukemia (APL) patient and the results of cytogenetic and molecular genetic studies.
METHODSChromosomes were prepared after 24 hours culture of bone marrow cells and peripheral blood cells. R-banding technique was used to analyze karyotypes. Chromosome painting analysis was performed using whole chromosome paints for chromosomes 15 and 17. PML-RAR alpha and RAR alpha-PML fusion transcripts were detected by reverse transcription-polymerase chain reaction (RT-PCR).
RESULTSKaryotypic analysis using both specimens from bone marrow and peripheral blood leukemic cells revealed 15q- and 17q+. Chromosome painting analysis confirmed that the karyotypic abnormality was ins(17;15). PML-RAR alpha fusion transcript (S type) was detected by RT-PCR, while RAR alpha-PML fusion transcript was not detected.
CONCLUSIONChromosome painting and RT-PCR are reliable methods for characterization of the insertion involving chromosomes 15 and 17 in APL patients.
