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

Kyung-Eun Kim; Kwang-Sook Woo; Sung-Hyun Kim; Jin-Yeong Han

doi:10.3343/kjlm.2009.29.5.379

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Kim, Woo, Kim, and Han: 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

Case Report

Korean J Leg Med 2009;29(5):379-383.

Published online: 14 January 2009

DOI: https://doi.org/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

Kyung-Eun Kim, M.D.¹, Kwang-Sook Woo, M.D.¹, Sung-Hyun Kim, M.D.², Jin-Yeong Han, M.D.¹

¹Departments of Laboratory Medicine and Internal Medicine, Busan, Korea

²Dong-A University College of Medicine, Busan, Korea

Corresponding author: Jin-Yeong Han, M.D. Department of Laboratory Medicine, Dong-A University College of Medicine, 1 3-ga, Dongdaesin-dong, Seo-gu, Busan 602-715, Korea Tel: +82-51-240-5323, Fax: +82-51-255-9366 E-mail: jyhan@dau.ac.kr

Revised 1 October 200810 August 2009 Accepted 21 August 2009

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Cryptic PML/RARA rearrangement, Acute promyelocytic leukemia, RT-PCR, PML/RARA, Trisomy 8

REFERENCES

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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).

Fig. 2.

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

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.

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.

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