Korean J Lab Med.  2009 Oct;29(5):379-383. 10.3343/kjlm.2009.29.5.379.

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

• Kim KE
• Woo KS
• Kim SH
• Han JY

• KMID: 1077411
• DOI: http://doi.org/10.3343/kjlm.2009.29.5.379

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.

Keyword

Cryptic PML/RARA rearrangement; Acute promyelocytic leukemia; RT-PCR; PML/RARA; Trisomy 8

MeSH Terms

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

Figure

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  Fig. 1. Abnormal hypogranular or sparsely granular promyelocytes from the peripheral blood smear (A) and bone marrow aspiration smear (B) (Wright-Giemsa stain, ×1,000).

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  Fig. 2. Giemsa-banded karyotype of bone marrow showing a 47,XX,+8. Trisomy 8 (arrow), and intact chromosomes 15 and 17 are observed.

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  Fig. 3. (A) Cohybridization FISH analysis with LSI PML/RARA dual color, dual fusion and chromosome 8 centromeric probes. There are three pink fluorescences on each chromosome 8 centromere, but no PML/RARA fusion signals on metaphase. (B) Cohybridization FISH analysis with LSI RARA dual color, break apart rearrangement and chromosome 8 centromeric probes. There are three chromosomes 8 but no RARA break apart rearrangement signals on metaphase.

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  Fig. 4. RT-PCR for PML/RARA fusion transcripts. S-form (393 bp) PML/RARA chimeric transcripts were amplified. Abbreviation: RT-PCR, reverse transcriptase-PCR.

Reference

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