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

Affiliations
  • 1Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea. jyhan@dau.ac.kr
  • 2Department of Internal Medicine, Dong-A University College of Medicine, Busan, Korea.

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.

Keyword

Acute promyelocytic leukemia; PML-RARA; BCR-ABL1

MeSH Terms

Humans
Leukemia, Myeloid, Acute
Leukemia, Promyelocytic, Acute*
Polymerase Chain Reaction*
Precursor Cell Lymphoblastic Leukemia-Lymphoma

Figure

  • 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.


Cited by  1 articles

Philadelphia-positive mixed phenotype acute leukemia presenting with PML-RARα fusion transcript without t(15;17) on cytogenetic studies
Seok Jae Huh, Sung-Hyun Kim, Hyo-Jin Kim, Jin Yeong Han, Hyeonho Lim, Ji Hyun Lee
Blood Res. 2018;53(3):256-260.    doi: 10.5045/br.2018.53.3.256.


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