A Case of Acute Promyelocytic Leukemia with Co-existence of BCR-ABL1 and PML-RARA Rearrangements Detected by PCR

Gyu Dae An; Hyeon Ho Lim; Kwang Sook Woo; Kyeong Hee Kim; Jeong Man Kim; Sung Hyun Kim; Jin Yeong Han

doi:10.3343/lmo.2017.7.4.196

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An, Lim, Woo, Kim, Kim, Kim, and Han: A Case of Acute Promyelocytic Leukemia with Co-existence of BCR-ABL1 and PML-RARA Rearrangements Detected by PCR

Original Article

Lab Med Online 2017;7(4):196-200.

Published online: 17 October 2017

DOI: https://doi.org/10.3343/lmo.2017.7.4.196

A Case of Acute Promyelocytic Leukemia with Co-existence of BCR-ABL1 and PML-RARA Rearrangements Detected by PCR

Gyu Dae An, M.D.¹, Hyeon Ho Lim, M.D.¹, Kwang Sook Woo, M.D.¹, Kyeong Hee Kim, M.D.¹, Jeong Man Kim, M.D.¹, Sung Hyun Kim, M.D.², Jin Yeong Han, M.D.^1,

¹Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea

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

Corresponding author: Jin Yeong Han Department of Laboratory Medicine, Dong-A University College of Medicine, 26 Daesingongwon-ro, Seo-gu, Busan 49201, Korea Tel: +82-51-240-5323, Fax: +82-51-255-9366, E-mail: jyhan@dau.ac.kr

Received 7 October 201631 January 2017 Accepted 10 February 2017

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia (AML) characterized by PML-RARA fusion and specific morphology. The BCR-ABL1 rearrangement is mainly observed in patients with chronic myeloid leukiemia (CML). However, it is also found in patients with acute lymphoblastic leukemia (ALL) and in a few patients with AML. However, it is very rarely observed in patients with APL. Here, we report a case of APL with t(15;17) and co-existence of PML-RARA and BCR-ABL1. Further study with more cases is warranted to find the right treatment and prognostic significance.

Keywords: Acute promyelocytic leukemia, PML-RARA, BCR-ABL1

REFERENCES

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Fig. 1.

Bone marrow aspiration smear shows several promyelocytes, including Auer rods and granules (Wright-Giemsa stain, ×1,000).

Fig. 2.

Agarose gel electrophoresis of the RT-PCR products. (A) PML-RARA fusion transcript (size: 325 bp) in lane 4D. (B) BCR-ABL1 e1a2- type fusion transcript (size: 320 bp) in lane 8F.Abbreviations: M, nucleic acid marked ladder; IC, internal control.

Fig. 3.

Sanger sequencing (A, B). (A) PML-RARA. (B) BCR-ABL1 (S-form, bcr3), e1a2.

Fig. 4.

The follow up PCR is positive for both PML-RARA and BCR-ABL1. Abbreviations: M, nucleic acid marker ladder; PC, positive control; NC, negative control; Pt, patient.

Table 1.

Comparison of published data on patients with BCR-ABL1 rearrangement in APL

No.	Year	Age/Sex	Karyotype	FISH/PCR	References
1	2009	38/F	46,XX,t(9;22)(q34;q11),t(15;17)(q24;q21)[4]/46,XX[16]	BCR-ABL1(+) PMA-RARA(+)	[5]
2	2011	50/M	46,XY,t(15;17)(q22;q12)[9]/46,XY,del(6)(q?),t(9;22)(q34;q11.2)[1]/46,XY[10]	BCR-ABL1(+) PMA-RARA(+)	[6]
3	2014	48/M	46,XY,t(9;22)(q34;q11),t(15;17)(q24;q21)[10]/47,idem,+8[4]/46,idem,der(14)t(9;14)(q10;q10)[6]	BCR-ABL1(+) PMA-RARA(+)	[7]
4	2015	51/F	46,XX,t(9;22)(q34;q11),t(15;17)(q24; q21)	BCR-ABL1(+)	[8]
				PMA-RARA(+)

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