Ann Lab Med.  2017 Jan;37(1):74-76. 10.3343/alm.2017.37.1.74.

Concurrence of e1a2 and e19a2 BCR-ABL1 Fusion Transcripts in a Typical Case of Chronic Myeloid Leukemia

• Lee J
• Kim DS
• Lee HS
• Choi SI
• Cho YG

• KMID: 2373619
• DOI: http://doi.org/10.3343/alm.2017.37.1.74

Abstract

No abstract available.

MeSH Terms

Aged, 80 and over
Base Sequence
Bone Marrow/pathology
DNA/chemistry/metabolism
Female
Fusion Proteins, bcr-abl/*genetics
Humans
Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis/*genetics
Multiplex Polymerase Chain Reaction
Protein Isoforms/genetics
Sequence Analysis, DNA
DNA
Fusion Proteins, bcr-abl
Protein Isoforms

Figure

• 

  Fig. 1 Images of peripheral blood (A, 200×) and bone marrow (B, 400× and C, 200×) showing typical morphology of CML in the chronic phase (A, B: Wright's stain, C: Hematoxylin & Eosin stain). Bone marrow differential count showed 3.5% blasts, 1.5% promyelocytes, 12.5% myelocytes, 15.0% metamyelocytes, 18.5% band neutrophils, 35.5% segmented neutrophils, 5.0% eosinophils, 4.0% basophils, and 4.5% erythroblasts.

• 

  Fig. 2 Representative images of BCR-ABL1 rearrangement in the present case. (A) Positive bands in commercial multiplex RT-PCR indicating e19a2: one (yellow arrowhead) is in Master M6 and Split-out M6B PCR, and presented as an atypically thick band overlapping with the control band at 911 bp; the other (white arrow) is in Master M8 and Split-out M8F. (B) Sequencing the M6B amplicon revealed the BCR-ABL1 fusion as the micro type (e19a2). (C) Another sequencing result indicated positivity for e1a2, the minor BCR-ABL1 rearrangement (0.04 normalized copy number [NCN]).

Reference

1. Melo JV. The diversity of BCR-ABL fusion proteins and their relationship to leukemia phenotype. Blood. 1996; 88:2375–2384. PMID: 8839828.

2. Pane F, Frigeri F, Sindona M, Luciano L, Ferrara F, Cimino R, et al. Neutrophilic-chronic myeloid leukemia: a distinct disease with a specific molecular marker (BCR/ABL with C3/A2 junction). Blood. 1996; 88:2410–2414. PMID: 8839830.

3. Jeon EK, Lim J, Kim M, Yahng SA, Lee SE, Cho BS, et al. The first case of acute lymphoblastic leukemia with the e19a2 BCR-ABL1 transcript: imatinib therapy followed by unrelated donor transplantation induces a durable molecular response. Leukemia. 2011; 25:366–367. PMID: 21072049.

4. van Rhee F, Hochhaus A, Lin F, Melo JV, Goldman JM, Cross NC. p190 BCR-ABL mRNA is expressed at low levels in p210-positive chronic myeloid and acute lymphoblastic leukemias. Blood. 1996; 87:5213–5217. PMID: 8652835.

5. Briz M, Vilches C, Cabrera R, Forés R, Fernández MN. Typical chronic myelogenous leukemia with e19a2 junction BCR/ABL transcript. Blood. 1997; 90:5024–5025. PMID: 9389724.

6. Bertorelle R, Bonaldi L, Bianchini E, Ramazzina E, Del Mistro A, Zamboni S, et al. The e19a2 BCR/ABL fusion transcript with additional chromosomal aberrations on a new case of chronic myeloid leukemia (CML) of mild type. Leukemia. 2001; 15:2003–2004. PMID: 11753631.

7. How GF, Tan LT, Lim LC. Chronic myeloid leukemia with e19a2 (c3a2) BCR/ABL fusion junction--is it truly a benign disease? Leukemia. 1998; 12:1166–1167. PMID: 9665206.

8. Pardanani A, Tefferi A, Litzow MR, Zent C, Hogan WJ, McClure RF, et al. Chronic myeloid leukemia with p190BCR-ABL: prevalence, morphology, tyrosine kinase inhibitor response, and kinase domain mutation analysis. Blood. 2009; 114:3502–3503. PMID: 19833856.

9. Vardiman JW. Chronic myelogenous leukemia, BCR-ABL1+. Am J Clin Pathol. 2009; 132:250–260. PMID: 19605820.