Blood Res.  2018 Sep;53(3):256-260. 10.5045/br.2018.53.3.256.

Philadelphia-positive mixed phenotype acute leukemia presenting with PML-RARα fusion transcript without t(15;17) on cytogenetic studies

• Huh SJ
• Kim SH
• Kim HJ
• Han JY
• Lim H
• Lee JH

• KMID: 2429329
• DOI: http://doi.org/10.5045/br.2018.53.3.256

Abstract

No abstract available.

MeSH Terms

Cytogenetics*
Leukemia*
Phenotype*

Figure

• 

  Fig. 1 Bone marrow aspiration smear shows lymphoblasts with scanty cytoplasms, lacking Auer rods and granules (Wright-Giemsa stain, ×1,000) (A). Cytogenetic finding by Giemsa-banding indicates 46,XX,t(9;22)(q34;q11) in 23 cells among the 25 metaphase cells (B). Fluorescence in situ hybridization (FISH) study showing BCR/ABL1 dual-fusion translocation probe (Vysis, Downers Grove, IL, USA) at initial diagnosis. Interphase image showing an abnormal signal pattern, consisting of one BCR (green), one ABL1 (red), and two fused green/red (or yellow) signals representing the BCR/ABL1 fusion (C). Interphase FISH image using PML/RARα dual-fusion translocation probe at initial diagnosis. Two separated PML (green) and RARα (red) signals, which indicate absence of the PML/RARα fusion (D).

• 

  Fig. 2 (A) Agarose gel electrophoresis of the RT-PCR products showing PML-RARα fusion transcript (size: 325 bp) in lane 4D and (B) BCR-ABL1 fusion transcript (size: 397 bp) in lane 6B. Sanger sequencing showing PML-RARA (C) and BCR-ABL1, b2a2 (D).Abbreviations: M, nucleic acid marked ladder; IC, internal control.

Reference

1. van den Ancker W, Terwijn M, Westers TM, et al. Acute leukemias of ambiguous lineage: diagnostic consequences of the WHO2008 classification. Leukemia. 2010; 24:1392–1396. PMID: 20485373.

2. Yan L, Ping N, Zhu M, et al. Clinical, immunophenotypic, cytogenetic, and molecular genetic features in 117 adult patients with mixed-phenotype acute leukemia defined by WHO-2008 classification. Haematologica. 2012; 97:1708–1712. PMID: 22581002.

3. Kim MJ, Cho SY, Kim MH, et al. FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: a case study and review of the literature. Cancer Genet Cytogenet. 2010; 203:278–283. PMID: 21156244.

4. Scolnik MP, Aranguren PN, Cuello MT, et al. Biphenotypic acute leukemia with t(15;17). Leuk Lymphoma. 2005; 46:607–610. PMID: 16019491.

5. Saito M, Izumiyama K, Mori A, et al. Biphenotypic acute leukemia with t(15;17) lacking promyelocytic-retinoid acid receptor α rearrangement. Hematol Rep. 2013; 5:e16. PMID: 24416501.

6. An GD, Lim HH, Woo KS, et al. A case of acute promyelocytic leukemia with co-existence of BCR-ABL1 and PML-RARA rearrangements detected by PCR. Lab Med Online. 2017; 7:196–200.

7. Emilia G, Marasca R, Longo G, et al. Detection of PML-RAR alpha fusion transcript in Ph positive leukemia with acute promyelocytic phenotype lacking the t(15;17) cytogenetic abnormality. Cancer Genet Cytogenet. 1995; 80:95–99. PMID: 7736444.

8. Mao L, Wang H, Cheng Y, Wang Y, Chen Z, Jie J. Occurrence of t(15;17)(q22;q21) and t(9;22)(q34;q11) in a patient with acute promyelocytic leukemia. Leuk Lymphoma. 2009; 50:466–470. PMID: 19266352.

9. Sun X, He Y, Mao C, Zhu L, Qin X, Huang S. BCR/ABL fusion gene detected in acute promyelocytic leukemia: a case study of clinical and laboratory results. Leuk Lymphoma. 2014; 55:435–438. PMID: 23772664.

10. Takahashi H, Sakai R, Hattori Y, et al. Biclonal co-existence of t(15;17) and t(9;22) chromosomal abnormalities in acute promyelocytic leukemia. Rinsho Ketsueki. 2011; 52:37–40. PMID: 21378481.

11. Zhang LJ, Gan YM, Yu L. Occurrence of BCR/ABL fusion gene in a patient with acute promyelocytic leukemia. Med Oncol. 2015; 32:382. PMID: 25428388.

12. Simmons S, Knoll M, Drewell C, et al. Biphenotypic B-lymphoid/myeloid cells expressing low levels of Pax5: potential targets of BAL development. Blood. 2012; 120:3688–3698. PMID: 22927250.

13. Orkin SH, Zon LI. Hematopoiesis: an evolving paradigm for stem cell biology. Cell. 2008; 132:631–644. PMID: 18295580.

14. Matutes E, Pickl WF, Van't Veer M, et al. Mixed-phenotype acute leukemia: clinical and laboratory features and outcome in 100 patients defined according to the WHO 2008 classification. Blood. 2011; 117:3163–3171. PMID: 21228332.

15. Shimizu H, Yokohama A, Hatsumi N, et al. Philadelphia chromosome-positive mixed phenotype acute leukemia in the imatinib era. Eur J Haematol. 2014; 93:297–301. PMID: 24750307.