Ann Lab Med.  2017 Jan;37(1):77-80. 10.3343/alm.2017.37.1.77.

A Case of Chronic Myeloid Leukemia With Rare Variant ETV6/ABL1 Rearrangement

  • 1Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.
  • 2Department of Internal Medicine, Division of Hematology & Oncology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea.


No abstract available.

MeSH Terms

Bone Marrow/pathology
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 9
Core Binding Factor Alpha 2 Subunit/*genetics
Gene Rearrangement
In Situ Hybridization, Fluorescence
Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis/*genetics
Middle Aged
Oncogene Proteins, Fusion/*genetics
Reverse Transcriptase Polymerase Chain Reaction
Translocation, Genetic
Core Binding Factor Alpha 2 Subunit
Oncogene Proteins, Fusion


  • Fig. 1 Bone marrow (BM) aspiration, biopsy, karyotyping, reverse transcription (RT)-PCR, and FISH analyses of the present case. (A) BM aspiration (Wright-Giemsa stain, ×400) and (B) BM biopsy (hematoxylin & eosin stain, ×50) revealed 90% hypercellular marrow with a left-shifted neutrophilic series, an increased number of eosinophilic precursors, and small, hypolobated megakaryocytes. (C) Karyotyping showing t(9;12)(q34;p13); arrows indicate the translocated regions. (D) RT-PCR using BCR/ABL1 and ETV6/ABL1 primer pairs, revealing the 700-bp BCR/ABL1 (lane 1, arrow) and 1,141-bp ETV6/ABL1 (lane 2, arrow) fusion transcripts; left, 100-bp molecular weight marker ladder. The internal control 911-bp band is shown in lane 2. (E and F) FISH analysis using BCR/ABL1 or ETV6/RUNX1 probes, showing no abnormal signal. (G and H) FISH using the mixed BCR/ABL1 and ETV6/RUNX1 probes revealing one yellow fusion signal (ABL1, red; ETV6, green) on 9q34 analyzed in interphase (G) and metaphase (H) cells.


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